ADDRESS (Annotated Database of Disease-RElated Sequences and Structures) maps disease-associated/benign mutations from HUMSAVAR to residues on PDB structures. It also performs and integrates structural analysis of mutations, including contact numbers and prediction of free-energy changes upon mutations (ΔΔG) by EvoEF and FoldX. The ADDRESS database can be used for hypothesis assessment and benchmarking of disease-associated prediction algorithms.
# | UniProt accession (Gene in neXtProt) |
Wild type amino acid | Mutant amino acid | Residue index in UniProt | dbSNP | Disease association [OMIM ID] |
---|---|---|---|---|---|---|
5001 | O75197 (LRP5) | Q | P | 816 | - | Benign |
5002 | O75197 (LRP5) | D | Y | 1099 | - | Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770] |
5003 | O75197 (LRP5) | R | C | 1113 | rs377258285 | Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770] |
5004 | O75197 (LRP5) | R | C | 1135 | rs143396225 | Benign |
5005 | O75197 (LRP5) | Y | H | 1168 | rs80358318 | Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813] |
5006 | O75197 (LRP5) | R | W | 1188 | rs141178995 | Disease: Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875] |
5007 | O75197 (LRP5) | V | L | 1204 | rs11607268 | Benign |
5008 | O75197 (LRP5) | C | F | 1253 | rs768615287 | Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813] |
5009 | O75197 (LRP5) | A | V | 1330 | rs3736228 | Benign |
5010 | O75197 (LRP5) | C | G | 1361 | rs80358320 | Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813] |
5011 | O75197 (LRP5) | E | K | 1367 | rs28939709 | Disease: Vitreoretino pathy, exudative 4 (EVR4) [MIM:601813] |
5012 | O75197 (LRP5) | G | D | 1401 | - | Disease: Osteoporosis - pseudoglioma syndrome (OPPG) [MIM:259770] |
5013 | O75197 (LRP5) | Y | C | 1517 | rs201030241 | Disease: Vitreoretino pathy, exudative 1 (EVR1) [MIM:133780] |
5014 | O75197 (LRP5) | A | V | 1525 | rs1127291 | Benign |
5015 | O75197 (LRP5) | A | T | 1537 | rs144376510 | Benign |
5016 | O75197 (LRP5) | T | M | 1540 | rs141407040 | Benign |
5017 | O75204 (TMEM127) | W | S | 53 | rs121908818 | Disease: Pheochromocy toma (PCC) [MIM:171300] |
5018 | O75204 (TMEM127) | D | N | 70 | rs121908819 | Disease: Pheochromocy toma (PCC) [MIM:171300] |
5019 | O75204 (TMEM127) | G | R | 73 | rs121908820 | Disease: Pheochromocy toma (PCC) [MIM:171300] |
5020 | O75204 (TMEM127) | V | M | 90 | rs121908823 | Disease: Pheochromocy toma (PCC) [MIM:171300] |
5021 | O75204 (TMEM127) | R | W | 94 | rs121908824 | Disease: Pheochromocy toma (PCC) [MIM:171300] |
5022 | O75204 (TMEM127) | C | R | 140 | rs121908827 | Disease: Pheochromocy toma (PCC) [MIM:171300] |
5023 | O75204 (TMEM127) | C | Y | 140 | rs121908828 | Disease: Pheochromocy toma (PCC) [MIM:171300] |
5024 | O75251 (NDUFS7) | P | L | 23 | rs1142530 | Benign |
5025 | O75251 (NDUFS7) | V | M | 122 | rs104894705 | Disease: Mitochondria l complex I deficiency, nuclear type 3 (MC1DN3) [MIM:618224] |
5026 | O75298 (RTN2) | S | F | 367 | rs140494585 | Disease: Spastic paraplegia 12, autosomal dominant (SPG12) [MIM:604805] |
5027 | O75298 (RTN2) | R | Q | 425 | rs35461805 | Benign |
5028 | O75306 (NDUFS2) | P | T | 20 | rs11538340 | Benign |
5029 | O75306 (NDUFS2) | A | V | 224 | - | Benign |
5030 | O75306 (NDUFS2) | R | Q | 228 | rs121434427 | Disease: Mitochondria l complex I deficiency, nuclear type 6 (MC1DN6) [MIM:618228] |
5031 | O75306 (NDUFS2) | P | A | 229 | rs16827493 | Benign |
5032 | O75306 (NDUFS2) | P | Q | 229 | rs121434428 | Disease: Mitochondria l complex I deficiency, nuclear type 6 (MC1DN6) [MIM:618228] |
5033 | O75306 (NDUFS2) | P | A | 352 | rs11576415 | Benign |
5034 | O75306 (NDUFS2) | S | P | 413 | rs121434429 | Disease: Mitochondria l complex I deficiency, nuclear type 6 (MC1DN6) [MIM:618228] |
5035 | O75309 (CDH16) | L | F | 191 | rs2271024 | Benign |
5036 | O75309 (CDH16) | H | Y | 257 | rs2271023 | Benign |
5037 | O75309 (CDH16) | R | H | 717 | rs34621310 | Benign |
5038 | O75312 (ZPR1) | A | V | 264 | rs35120633 | Benign |
5039 | O75324 (SNN) | V | I | 17 | rs8191328 | Benign |
5040 | O75324 (SNN) | G | S | 88 | rs8191329 | Benign |
5041 | O75325 (LRRN2) | P | L | 7 | rs3789044 | Benign |
5042 | O75325 (LRRN2) | A | T | 19 | rs36012907 | Benign |
5043 | O75325 (LRRN2) | L | V | 518 | rs3747631 | Benign |
5044 | O75325 (LRRN2) | V | A | 659 | rs34771052 | Benign |
5045 | O75325 (LRRN2) | P | S | 692 | rs11588857 | Benign |
5046 | O75326 (SEMA7A) | S | T | 115 | rs16968733 | Benign |
5047 | O75326 (SEMA7A) | R | Q | 207 | rs55637216 | Benign |
5048 | O75326 (SEMA7A) | R | W | 207 | rs56367230 | Benign |
5049 | O75326 (SEMA7A) | R | L | 347 | rs387907241 | Benign |
5050 | O75326 (SEMA7A) | R | H | 460 | rs56204206 | Benign |
5051 | O75326 (SEMA7A) | R | C | 461 | rs56001514 | Benign |
5052 | O75330 (HMMR) | R | C | 92 | rs299284 | Benign |
5053 | O75330 (HMMR) | N | K | 305 | rs2303077 | Benign |
5054 | O75330 (HMMR) | N | K | 320 | rs2303077 | Benign |
5055 | O75330 (HMMR) | R | H | 332 | rs2303078 | Benign |
5056 | O75330 (HMMR) | V | A | 368 | rs299290 | Benign |
5057 | O75330 (HMMR) | A | V | 484 | rs299295 | Benign |
5058 | O75330 (HMMR) | D | H | 557 | rs2230362 | Benign |
5059 | O75330 (HMMR) | L | I | 595 | rs2230363 | Benign |
5060 | O75333 (TBX10) | K | T | 101 | rs3758938 | Benign |
5061 | O75333 (TBX10) | Q | H | 160 | rs11227873 | Benign |
5062 | O75339 (CILP) | W | L | 59 | rs2585033 | Benign |
5063 | O75339 (CILP) | S | F | 327 | - | Benign |
5064 | O75339 (CILP) | I | T | 395 | rs2073711 | Benign |
5065 | O75339 (CILP) | R | H | 495 | rs149286218 | Benign |
5066 | O75339 (CILP) | K | E | 575 | rs2679118 | Benign |
5067 | O75339 (CILP) | A | V | 895 | rs771628304 | Benign |
5068 | O75339 (CILP) | Q | R | 979 | rs2679117 | Benign |
5069 | O75339 (CILP) | S | T | 1032 | rs768702821 | Benign |
5070 | O75339 (CILP) | D | N | 1101 | rs769023414 | Benign |
5071 | O75339 (CILP) | G | S | 1166 | rs938952 | Benign |
5072 | O75339 (CILP) | V | A | 1168 | rs747702148 | Benign |
5073 | O75342 (ALOX12B) | L | P | 24 | rs201575829 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5074 | O75342 (ALOX12B) | I | F | 67 | rs397514533 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5075 | O75342 (ALOX12B) | G | S | 94 | rs8077661 | Benign |
5076 | O75342 (ALOX12B) | R | W | 114 | rs397514526 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5077 | O75342 (ALOX12B) | P | S | 127 | rs72842957 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5078 | O75342 (ALOX12B) | F | L | 195 | rs200516538 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5079 | O75342 (ALOX12B) | Y | C | 318 | - | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5080 | O75342 (ALOX12B) | K | E | 382 | - | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5081 | O75342 (ALOX12B) | T | M | 383 | rs760428119 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5082 | O75342 (ALOX12B) | N | K | 416 | rs1039399607 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5083 | O75342 (ALOX12B) | L | P | 426 | rs137853023 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5084 | O75342 (ALOX12B) | G | D | 462 | rs774958790 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5085 | O75342 (ALOX12B) | R | H | 488 | rs763468558 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5086 | O75342 (ALOX12B) | Y | C | 521 | rs199766569 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5087 | O75342 (ALOX12B) | V | M | 527 | rs199545653 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5088 | O75342 (ALOX12B) | H | Q | 578 | rs137853024 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5089 | O75342 (ALOX12B) | A | E | 597 | rs752509098 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5090 | O75342 (ALOX12B) | A | P | 664 | - | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5091 | O75342 (ALOX12B) | R | L | 679 | rs397514528 | Disease: Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
5092 | O75343 (GUCY1B2) | Y | C | 55 | rs9568497 | Benign |
5093 | O75343 (GUCY1B2) | M | I | 128 | rs11841997 | Benign |
5094 | O75343 (GUCY1B2) | N | H | 316 | rs1328361 | Benign |
5095 | O75344 (FKBP6) | R | C | 183 | rs147213094 | Benign |
5096 | O75351 (VPS4B) | I | M | 58 | rs17688948 | Benign |
5097 | O75352 (MPDU1) | G | E | 73 | rs104894586 | Disease: Congenital disorder of glycosylatio n 1F (CDG1F) [MIM:609180] |
5098 | O75352 (MPDU1) | L | S | 74 | rs104894589 | Disease: Congenital disorder of glycosylatio n 1F (CDG1F) [MIM:609180] |
5099 | O75352 (MPDU1) | L | P | 119 | rs104894587 | Disease: Congenital disorder of glycosylatio n 1F (CDG1F) [MIM:609180] |
5100 | O75352 (MPDU1) | G | S | 225 | rs16956808 | Benign |
5101 | O75352 (MPDU1) | A | T | 229 | rs10852891 | Benign |
5102 | O75354 (ENTPD6) | S | N | 14 | rs2076559 | Benign |
5103 | O75354 (ENTPD6) | L | V | 138 | rs1044567 | Benign |
5104 | O75354 (ENTPD6) | R | Q | 157 | rs34007133 | Benign |
5105 | O75354 (ENTPD6) | K | E | 202 | rs6050446 | Benign |
5106 | O75354 (ENTPD6) | S | N | 323 | rs6138541 | Benign |
5107 | O75355 (ENTPD3) | I | V | 24 | rs17852714 | Benign |
5108 | O75355 (ENTPD3) | R | Q | 264 | rs34266806 | Benign |
5109 | O75355 (ENTPD3) | E | D | 440 | rs4470483 | Benign |
5110 | O75355 (ENTPD3) | A | V | 496 | rs1047855 | Benign |
5111 | O75355 (ENTPD3) | L | F | 505 | rs3733167 | Benign |
5112 | O75356 (ENTPD5) | K | R | 314 | rs17094434 | Benign |
5113 | O75360 (PROP1) | N | S | 20 | rs7445271 | Benign |
5114 | O75360 (PROP1) | R | C | 73 | rs121917843 | Disease: Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] |
5115 | O75360 (PROP1) | R | H | 73 | rs121917842 | Disease: Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] |
5116 | O75360 (PROP1) | F | S | 88 | rs121917841 | Disease: Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] |
5117 | O75360 (PROP1) | R | Q | 99 | rs137853100 | Disease: Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] |
5118 | O75360 (PROP1) | F | I | 117 | rs121917840 | Disease: Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] |
5119 | O75360 (PROP1) | R | C | 120 | rs121917839 | Disease: Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] |
5120 | O75360 (PROP1) | R | W | 125 | rs146918863 | Disease: Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] |
5121 | O75360 (PROP1) | A | T | 142 | rs1800197 | Benign |
5122 | O75362 (ZNF217) | V | I | 739 | rs6063966 | Benign |
5123 | O75362 (ZNF217) | D | G | 889 | rs34323943 | Benign |
5124 | O75363 (BCAS1) | Q | K | 24 | rs394732 | Benign |
5125 | O75363 (BCAS1) | V | A | 163 | rs158551 | Benign |
5126 | O75363 (BCAS1) | G | E | 255 | rs6022903 | Benign |
5127 | O75363 (BCAS1) | Q | H | 472 | rs35575210 | Benign |
5128 | O75363 (BCAS1) | S | P | 583 | rs1055246 | Benign |
5129 | O75364 (PITX3) | S | N | 13 | rs104894175 | Disease: Cataract 11, multiple types (CTRCT11) [MIM:610623] |
5130 | O75366 (AVIL) | R | Q | 135 | - | Disease: Nephrotic syndrome 21 (NPHS21) [MIM:618594] |
5131 | O75366 (AVIL) | K | E | 204 | rs2172521 | Benign |
5132 | O75366 (AVIL) | L | M | 425 | - | Disease: Nephrotic syndrome 21 (NPHS21) [MIM:618594] |
5133 | O75369 (FLNB) | F | C | 161 | rs80356506 | Disease: Larsen syndrome (LRS) [MIM:150250] |
5134 | O75369 (FLNB) | G | S | 168 | rs80356504 | Disease: Larsen syndrome (LRS) [MIM:150250] |
5135 | O75369 (FLNB) | L | R | 171 | rs80356494 | Disease: Boomerang dysplasia (BOOMD) [MIM:112310] |
5136 | O75369 (FLNB) | A | V | 173 | rs121908894 | Disease: Atelosteogen esis 1 (AO1) [MIM:108720] |
5137 | O75369 (FLNB) | S | P | 188 | - | Disease: Atelosteogen esis 1 (AO1) [MIM:108720] |
5138 | O75369 (FLNB) | M | V | 202 | rs121908895 | Disease: Atelosteogen esis 3 (AO3) [MIM:108721] |
5139 | O75369 (FLNB) | E | K | 227 | rs80356508 | Disease: Larsen syndrome (LRS) [MIM:150250] |
5140 | O75369 (FLNB) | L | V | 234 | rs80356507 | Disease: Larsen syndrome (LRS) [MIM:150250] |
5141 | O75369 (FLNB) | S | P | 235 | rs121908896 | Disease: Boomerang dysplasia (BOOMD) [MIM:112310] |
5142 | O75369 (FLNB) | G | S | 361 | rs80356509 | Disease: Larsen syndrome (LRS) [MIM:150250] |
5143 | O75369 (FLNB) | G | E | 363 | rs80356510 | Disease: Larsen syndrome (LRS) [MIM:150250] |
5144 | O75369 (FLNB) | G | R | 751 | rs28937587 | Disease: Atelosteogen esis 3 (AO3) [MIM:108721] |
5145 | O75369 (FLNB) | V | M | 1018 | rs2276742 | Benign |
5146 | O75369 (FLNB) | D | N | 1157 | rs1131356 | Benign |
5147 | O75369 (FLNB) | E | K | 1179 | rs17058845 | Benign |
5148 | O75369 (FLNB) | L | R | 1431 | rs80356511 | Disease: Larsen syndrome (LRS) [MIM:150250] |
5149 | O75369 (FLNB) | V | M | 1471 | rs12632456 | Benign |
5150 | O75369 (FLNB) | G | R | 1586 | rs80356513 | Disease: Larsen syndrome (LRS) [MIM:150250] |
5151 | O75369 (FLNB) | V | D | 1592 | rs80356514 | Disease: Larsen syndrome (LRS) [MIM:150250] |
5152 | O75369 (FLNB) | P | L | 1603 | rs80356515 | Disease: Larsen syndrome (LRS) [MIM:150250] |
5153 | O75369 (FLNB) | G | S | 1691 | rs80356503 | Disease: Larsen syndrome (LRS) [MIM:150250] |
5154 | O75369 (FLNB) | G | R | 1834 | rs80356516 | Disease: Larsen syndrome (LRS) [MIM:150250] |
5155 | O75373 (ZNF737) | C | S | 78 | rs7254995 | Benign |
5156 | O75373 (ZNF737) | V | L | 125 | rs9653154 | Benign |
5157 | O75373 (ZNF737) | R | C | 492 | rs10410201 | Benign |
5158 | O75373 (ZNF737) | K | E | 516 | rs10411329 | Benign |
5159 | O75380 (NDUFS6) | C | Y | 115 | rs267606913 | Disease: Mitochondria l complex I deficiency, nuclear type 9 (MC1DN9) [MIM:618232] |
5160 | O75381 (PEX14) | A | S | 117 | rs12061667 | Benign |
5161 | O75381 (PEX14) | A | S | 150 | rs11539793 | Benign |
5162 | O75381 (PEX14) | R | K | 320 | rs12070353 | Benign |
5163 | O75382 (TRIM3) | L | R | 298 | rs10128723 | Benign |
5164 | O75385 (ULK1) | S | L | 298 | rs56364352 | Benign |
5165 | O75385 (ULK1) | P | L | 478 | rs12827141 | Benign |
5166 | O75385 (ULK1) | T | M | 503 | rs55824543 | Benign |
5167 | O75385 (ULK1) | S | L | 665 | rs55815560 | Benign |
5168 | O75385 (ULK1) | P | L | 714 | rs11546871 | Benign |
5169 | O75385 (ULK1) | T | A | 816 | rs11609348 | Benign |
5170 | O75387 (SLC43A1) | G | V | 238 | rs17151933 | Benign |
5171 | O75387 (SLC43A1) | H | Y | 443 | rs34746107 | Benign |
5172 | O75388 (GPR32) | F | L | 327 | rs1864011 | Benign |
5173 | O75396 (SEC22B) | D | Y | 71 | rs2596331 | Benign |
5174 | O75396 (SEC22B) | T | K | 82 | rs2794053 | Benign |
5175 | O75396 (SEC22B) | R | Q | 108 | rs2655551 | Benign |
5176 | O75396 (SEC22B) | C | R | 130 | rs2590131 | Benign |
5177 | O75396 (SEC22B) | H | R | 190 | rs2655557 | Benign |
5178 | O75396 (SEC22B) | W | C | 214 | rs7534444 | Benign |
5179 | O75398 (DEAF1) | R | W | 224 | rs587777408 | Disease: Mental retardation, autosomal dominant 24 (MRD24) [MIM:615828] |
5180 | O75398 (DEAF1) | R | W | 226 | rs587777623 | Benign |
5181 | O75398 (DEAF1) | I | S | 228 | rs587777406 | Disease: Mental retardation, autosomal dominant 24 (MRD24) [MIM:615828] |
5182 | O75398 (DEAF1) | R | S | 254 | rs587777409 | Disease: Mental retardation, autosomal dominant 24 (MRD24) [MIM:615828] |
5183 | O75398 (DEAF1) | Q | P | 264 | rs587777407 | Disease: Mental retardation, autosomal dominant 24 (MRD24) [MIM:615828] |
5184 | O75409 (H2AP) | V | I | 68 | rs6651635 | Benign |
5185 | O75410 (TACC1) | P | L | 187 | rs34235313 | Benign |
5186 | O75410 (TACC1) | I | T | 243 | rs6980553 | Benign |
5187 | O75410 (TACC1) | E | G | 255 | rs10107016 | Benign |
5188 | O75417 (POLQ) | P | L | 1056 | rs34778629 | Benign |
5189 | O75419 (CDC45) | Q | R | 68 | rs879255633 | Disease: Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] |
5190 | O75419 (CDC45) | N | H | 76 | rs879255632 | Disease: Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] |
5191 | O75419 (CDC45) | V | I | 81 | rs13447203 | Benign |
5192 | O75419 (CDC45) | R | C | 157 | rs540217942 | Disease: Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] |
5193 | O75419 (CDC45) | D | G | 226 | rs754080445 | Disease: Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] |
5194 | O75419 (CDC45) | A | V | 298 | rs146559223 | Disease: Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] |
5195 | O75419 (CDC45) | M | R | 356 | rs17209274 | Benign |
5196 | O75419 (CDC45) | V | M | 376 | rs13447263 | Benign |
5197 | O75426 (FBXO24) | R | H | 302 | rs7801492 | Benign |
5198 | O75427 (LRCH4) | V | M | 642 | rs3197597 | Benign |
5199 | O75437 (ZNF254) | D | G | 93 | rs17854260 | Benign |
5200 | O75437 (ZNF254) | A | T | 386 | rs403356 | Benign |
5201 | O75437 (ZNF254) | T | A | 457 | rs2925930 | Benign |
5202 | O75437 (ZNF254) | K | N | 537 | rs12611425 | Benign |
5203 | O75437 (ZNF254) | V | I | 594 | rs2446056 | Benign |
5204 | O75439 (PMPCB) | R | C | 175 | rs145596167 | Disease: Multiple mitochondria l dysfunctions syndrome 6 (MMDS6) [MIM:617954] |
5205 | O75439 (PMPCB) | R | H | 175 | rs200188353 | Disease: Multiple mitochondria l dysfunctions syndrome 6 (MMDS6) [MIM:617954] |
5206 | O75439 (PMPCB) | V | G | 177 | rs1436866272 | Disease: Multiple mitochondria l dysfunctions syndrome 6 (MMDS6) [MIM:617954] |
5207 | O75439 (PMPCB) | A | P | 201 | rs146343535 | Disease: Multiple mitochondria l dysfunctions syndrome 6 (MMDS6) [MIM:617954] |
5208 | O75439 (PMPCB) | E | D | 396 | rs3087615 | Benign |
5209 | O75439 (PMPCB) | I | T | 422 | rs1461200360 | Disease: Multiple mitochondria l dysfunctions syndrome 6 (MMDS6) [MIM:617954] |
5210 | O75443 (TECTA) | Q | R | 19 | rs35507522 | Benign |
5211 | O75443 (TECTA) | D | N | 197 | - | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5212 | O75443 (TECTA) | F | S | 211 | - | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5213 | O75443 (TECTA) | V | E | 317 | - | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5214 | O75443 (TECTA) | S | C | 362 | rs779123206 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5215 | O75443 (TECTA) | R | G | 371 | rs612969 | Benign |
5216 | O75443 (TECTA) | N | K | 465 | - | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5217 | O75443 (TECTA) | T | M | 562 | rs779401654 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5218 | O75443 (TECTA) | T | M | 815 | rs111759871 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5219 | O75443 (TECTA) | N | S | 886 | rs146175803 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5220 | O75443 (TECTA) | V | A | 932 | rs520805 | Benign |
5221 | O75443 (TECTA) | C | Y | 1036 | rs772606235 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5222 | O75443 (TECTA) | C | S | 1057 | rs121909059 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5223 | O75443 (TECTA) | A | V | 1098 | rs761524812 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5224 | O75443 (TECTA) | D | H | 1136 | rs147890616 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5225 | O75443 (TECTA) | P | L | 1248 | rs138768918 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5226 | O75443 (TECTA) | C | G | 1509 | - | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5227 | O75443 (TECTA) | C | R | 1517 | - | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5228 | O75443 (TECTA) | S | T | 1584 | rs34963131 | Benign |
5229 | O75443 (TECTA) | C | S | 1619 | rs121909060 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5230 | O75443 (TECTA) | S | N | 1724 | rs526433 | Benign |
5231 | O75443 (TECTA) | P | R | 1791 | rs754213928 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5232 | O75443 (TECTA) | L | F | 1820 | rs281865415 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5233 | O75443 (TECTA) | G | D | 1824 | rs267607107 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5234 | O75443 (TECTA) | C | G | 1837 | rs121909061 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5235 | O75443 (TECTA) | C | R | 1837 | rs121909061 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5236 | O75443 (TECTA) | T | M | 1866 | rs140236996 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5237 | O75443 (TECTA) | H | R | 1867 | - | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5238 | O75443 (TECTA) | Y | C | 1870 | rs121909058 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5239 | O75443 (TECTA) | S | R | 1878 | rs202045605 | Benign |
5240 | O75443 (TECTA) | R | C | 1890 | rs121909063 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5241 | O75443 (TECTA) | C | R | 1898 | - | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5242 | O75443 (TECTA) | R | C | 1947 | rs1428598791 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5243 | O75443 (TECTA) | I | T | 2009 | - | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5244 | O75443 (TECTA) | R | H | 2021 | rs121909062 | Disease: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] |
5245 | O75443 (TECTA) | S | T | 2100 | - | Benign |
5246 | O75444 (MAF) | S | L | 54 | rs727502766 | Disease: Ayme-Gripp syndrome (AYGRP) [MIM:601088] |
5247 | O75444 (MAF) | T | A | 58 | rs727502767 | Disease: Ayme-Gripp syndrome (AYGRP) [MIM:601088] |
5248 | O75444 (MAF) | T | I | 58 | rs727502769 | Disease: Ayme-Gripp syndrome (AYGRP) [MIM:601088] |
5249 | O75444 (MAF) | P | H | 59 | rs727502770 | Disease: Ayme-Gripp syndrome (AYGRP) [MIM:601088] |
5250 | O75444 (MAF) | P | L | 59 | rs727502770 | Disease: Ayme-Gripp syndrome (AYGRP) [MIM:601088] |
5251 | O75444 (MAF) | T | R | 62 | rs727502771 | Disease: Ayme-Gripp syndrome (AYGRP) [MIM:601088] |
5252 | O75444 (MAF) | P | R | 69 | rs727502768 | Disease: Ayme-Gripp syndrome (AYGRP) [MIM:601088] |
5253 | O75444 (MAF) | R | P | 288 | rs121917735 | Disease: Cataract 21, multiple types (CTRCT21) [MIM:610202] |
5254 | O75444 (MAF) | K | R | 297 | rs121917736 | Disease: Cataract 21, multiple types (CTRCT21) [MIM:610202] |
5255 | O75444 (MAF) | Q | L | 303 | - | Disease: Cataract 21, multiple types (CTRCT21) [MIM:610202] |
5256 | O75445 (USH2A) | G | R | 44 | rs1381795491 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5257 | O75445 (USH2A) | A | T | 125 | rs10779261 | Benign |
5258 | O75445 (USH2A) | C | Y | 163 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5259 | O75445 (USH2A) | S | P | 180 | rs1171672823 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5260 | O75445 (USH2A) | V | E | 218 | rs397518026 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5261 | O75445 (USH2A) | L | F | 280 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5262 | O75445 (USH2A) | E | K | 284 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5263 | O75445 (USH2A) | R | C | 303 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5264 | O75445 (USH2A) | R | S | 303 | rs748465849 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5265 | O75445 (USH2A) | C | Y | 319 | rs121912599 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5266 | O75445 (USH2A) | R | Q | 334 | rs758303489 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5267 | O75445 (USH2A) | R | W | 334 | rs397517963 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5268 | O75445 (USH2A) | N | H | 346 | rs369522997 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5269 | O75445 (USH2A) | T | I | 352 | rs780308389 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5270 | O75445 (USH2A) | N | T | 357 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5271 | O75445 (USH2A) | L | F | 365 | - | Benign |
5272 | O75445 (USH2A) | V | M | 382 | rs750651679 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5273 | O75445 (USH2A) | C | F | 419 | rs121912600 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5274 | O75445 (USH2A) | F | S | 479 | - | Benign |
5275 | O75445 (USH2A) | C | R | 536 | rs111033273 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5276 | O75445 (USH2A) | L | V | 555 | rs35818432 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5277 | O75445 (USH2A) | F | S | 595 | rs200496467 | Benign |
5278 | O75445 (USH2A) | H | P | 610 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5279 | O75445 (USH2A) | D | V | 644 | rs1805048 | Benign |
5280 | O75445 (USH2A) | C | Y | 691 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5281 | O75445 (USH2A) | D | E | 703 | - | Benign |
5282 | O75445 (USH2A) | G | R | 713 | rs696723 | Benign |
5283 | O75445 (USH2A) | C | F | 759 | rs80338902 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5284 | O75445 (USH2A) | P | R | 761 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5285 | O75445 (USH2A) | S | Y | 841 | rs111033282 | Benign |
5286 | O75445 (USH2A) | C | W | 934 | rs201527662 | Disease: Retinitis pigmentosa 39 (RP39) [MIM:613809] |
5287 | O75445 (USH2A) | L | V | 1047 | rs727503735 | Benign |
5288 | O75445 (USH2A) | P | L | 1212 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5289 | O75445 (USH2A) | S | P | 1349 | rs761656866 | Benign |
5290 | O75445 (USH2A) | F | S | 1442 | rs766108245 | Disease: Retinitis pigmentosa 39 (RP39) [MIM:613809] |
5291 | O75445 (USH2A) | R | K | 1486 | rs1805049 | Benign |
5292 | O75445 (USH2A) | T | M | 1515 | rs373599651 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5293 | O75445 (USH2A) | L | F | 1572 | rs111033333 | Benign |
5294 | O75445 (USH2A) | I | T | 1665 | rs56222536 | Benign |
5295 | O75445 (USH2A) | G | R | 1734 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5296 | O75445 (USH2A) | Y | C | 1757 | - | Benign |
5297 | O75445 (USH2A) | R | W | 1777 | rs770329105 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5298 | O75445 (USH2A) | V | E | 1833 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5299 | O75445 (USH2A) | G | V | 1840 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5300 | O75445 (USH2A) | P | L | 1843 | rs200209833 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5301 | O75445 (USH2A) | F | C | 1859 | - | Disease: Retinitis pigmentosa 39 (RP39) [MIM:613809] |
5302 | O75445 (USH2A) | G | S | 1861 | rs375668376 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5303 | O75445 (USH2A) | T | N | 2086 | rs149202379 | Benign |
5304 | O75445 (USH2A) | I | T | 2106 | rs6657250 | Benign |
5305 | O75445 (USH2A) | I | T | 2169 | rs10864219 | Benign |
5306 | O75445 (USH2A) | A | D | 2249 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5307 | O75445 (USH2A) | R | H | 2354 | rs201386640 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5308 | O75445 (USH2A) | N | S | 2377 | rs111033394 | Benign |
5309 | O75445 (USH2A) | N | K | 2394 | - | Benign |
5310 | O75445 (USH2A) | R | H | 2460 | rs368681648 | Disease: Retinitis pigmentosa 39 (RP39) [MIM:613809] |
5311 | O75445 (USH2A) | D | N | 2738 | rs750687826 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5312 | O75445 (USH2A) | W | C | 2744 | rs1424639717 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5313 | O75445 (USH2A) | G | R | 2752 | rs201863550 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5314 | O75445 (USH2A) | A | S | 2795 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5315 | O75445 (USH2A) | V | I | 2820 | rs59174500 | Benign |
5316 | O75445 (USH2A) | R | Q | 2875 | rs12118814 | Benign |
5317 | O75445 (USH2A) | L | F | 2886 | rs41277200 | Benign |
5318 | O75445 (USH2A) | E | K | 3088 | rs56056328 | Benign |
5319 | O75445 (USH2A) | N | S | 3099 | rs41277194 | Benign |
5320 | O75445 (USH2A) | T | A | 3115 | rs56032526 | Benign |
5321 | O75445 (USH2A) | D | N | 3144 | rs11120645 | Benign |
5322 | O75445 (USH2A) | N | D | 3199 | rs4129843 | Benign |
5323 | O75445 (USH2A) | C | R | 3251 | rs527236118 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5324 | O75445 (USH2A) | C | R | 3267 | rs111033263 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5325 | O75445 (USH2A) | C | R | 3282 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5326 | O75445 (USH2A) | I | M | 3335 | - | Benign |
5327 | O75445 (USH2A) | C | Y | 3358 | rs148660051 | Disease: Retinitis pigmentosa 39 (RP39) [MIM:613809] |
5328 | O75445 (USH2A) | E | A | 3411 | rs10864198 | Benign |
5329 | O75445 (USH2A) | P | T | 3504 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5330 | O75445 (USH2A) | D | G | 3515 | rs527236119 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5331 | O75445 (USH2A) | W | R | 3521 | rs111033264 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5332 | O75445 (USH2A) | G | R | 3546 | rs1553261372 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5333 | O75445 (USH2A) | T | M | 3571 | rs202175091 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5334 | O75445 (USH2A) | P | L | 3590 | rs115403785 | Benign |
5335 | O75445 (USH2A) | S | R | 3669 | - | Disease: Retinitis pigmentosa 39 (RP39) [MIM:613809] |
5336 | O75445 (USH2A) | Y | C | 3747 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5337 | O75445 (USH2A) | T | I | 3835 | rs11120616 | Benign |
5338 | O75445 (USH2A) | M | V | 3868 | rs35309576 | Benign |
5339 | O75445 (USH2A) | P | T | 3893 | rs41303285 | Benign |
5340 | O75445 (USH2A) | N | D | 3894 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5341 | O75445 (USH2A) | G | E | 3895 | rs1472714005 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5342 | O75445 (USH2A) | T | M | 3976 | rs142381713 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5343 | O75445 (USH2A) | S | I | 4054 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5344 | O75445 (USH2A) | R | C | 4115 | rs111033275 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5345 | O75445 (USH2A) | Q | R | 4203 | rs148556640 | Benign |
5346 | O75445 (USH2A) | P | R | 4232 | rs745371873 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5347 | O75445 (USH2A) | T | M | 4337 | rs527236137 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5348 | O75445 (USH2A) | T | M | 4425 | rs201238640 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5349 | O75445 (USH2A) | T | I | 4439 | rs753330544 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5350 | O75445 (USH2A) | Y | C | 4487 | rs768893227 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5351 | O75445 (USH2A) | R | H | 4493 | rs138879998 | Benign |
5352 | O75445 (USH2A) | Q | H | 4592 | - | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5353 | O75445 (USH2A) | A | V | 4611 | rs376077079 | Benign |
5354 | O75445 (USH2A) | G | V | 4616 | rs527236124 | Benign |
5355 | O75445 (USH2A) | F | V | 4624 | rs1369860869 | Benign |
5356 | O75445 (USH2A) | R | G | 4674 | rs80338904 | Disease: Retinitis pigmentosa 39 (RP39) [MIM:613809] |
5357 | O75445 (USH2A) | R | K | 4739 | rs12085354 | Benign |
5358 | O75445 (USH2A) | A | D | 4778 | rs113447586 | Benign |
5359 | O75445 (USH2A) | L | R | 4795 | rs199851839 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5360 | O75445 (USH2A) | P | L | 4818 | rs143344549 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5361 | O75445 (USH2A) | G | E | 4838 | rs41315587 | Benign |
5362 | O75445 (USH2A) | R | Q | 4848 | rs77211159 | Benign |
5363 | O75445 (USH2A) | S | T | 4881 | rs200949691 | Benign |
5364 | O75445 (USH2A) | E | K | 4921 | rs754834155 | Benign |
5365 | O75445 (USH2A) | K | E | 5026 | rs41308435 | Benign |
5366 | O75445 (USH2A) | R | W | 5031 | rs56038610 | Benign |
5367 | O75445 (USH2A) | L | R | 5063 | - | Disease: Retinitis pigmentosa 39 (RP39) [MIM:613809] |
5368 | O75445 (USH2A) | R | C | 5143 | rs145771342 | Disease: Usher syndrome 2A (USH2A) [MIM:276901] |
5369 | O75448 (MED24) | A | T | 204 | rs34585432 | Benign |
5370 | O75459 (PAGE1) | L | P | 75 | rs1055197 | Benign |
5371 | O75460 (ERN1) | V | M | 418 | rs55869215 | Benign |
5372 | O75460 (ERN1) | N | S | 700 | rs918253870 | Benign |
5373 | O75462 (CRLF1) | L | P | 74 | rs1295488778 | Disease: Crisponi /Cold- induced sweating syndrome 1 (CISS1) [MIM:272430] |
5374 | O75462 (CRLF1) | Y | D | 75 | - | Disease: Crisponi /Cold- induced sweating syndrome 1 (CISS1) [MIM:272430] |
5375 | O75462 (CRLF1) | W | G | 76 | rs137853143 | Disease: Crisponi /Cold- induced sweating syndrome 1 (CISS1) [MIM:272430] |
5376 | O75462 (CRLF1) | R | H | 81 | rs104894670 | Disease: Crisponi /Cold- induced sweating syndrome 1 (CISS1) [MIM:272430] |
5377 | O75462 (CRLF1) | N | I | 113 | - | Disease: Crisponi /Cold- induced sweating syndrome 1 (CISS1) [MIM:272430] |
5378 | O75462 (CRLF1) | L | P | 114 | rs774359694 | Disease: Crisponi /Cold- induced sweating syndrome 1 (CISS1) [MIM:272430] |
5379 | O75462 (CRLF1) | P | L | 138 | rs137853930 | Disease: Crisponi /Cold- induced sweating syndrome 1 (CISS1) [MIM:272430] |
5380 | O75462 (CRLF1) | S | P | 145 | - | Disease: Crisponi /Cold- induced sweating syndrome 1 (CISS1) [MIM:272430] |
5381 | O75462 (CRLF1) | R | K | 176 | rs11672248 | Benign |
5382 | O75462 (CRLF1) | R | C | 216 | rs556029569 | Disease: Crisponi /Cold- induced sweating syndrome 1 (CISS1) [MIM:272430] |
5383 | O75462 (CRLF1) | F | S | 268 | rs761982168 | Disease: Crisponi /Cold- induced sweating syndrome 1 (CISS1) [MIM:272430] |
5384 | O75462 (CRLF1) | W | C | 284 | rs137853927 | Disease: Crisponi /Cold- induced sweating syndrome 1 (CISS1) [MIM:272430] |
5385 | O75462 (CRLF1) | R | P | 312 | rs137853933 | Disease: Crisponi /Cold- induced sweating syndrome 1 (CISS1) [MIM:272430] |
5386 | O75462 (CRLF1) | R | C | 340 | rs771459625 | Disease: Crisponi /Cold- induced sweating syndrome 1 (CISS1) [MIM:272430] |
5387 | O75462 (CRLF1) | L | R | 374 | rs104894668 | Disease: Crisponi /Cold- induced sweating syndrome 1 (CISS1) [MIM:272430] |
5388 | O75469 (NR1I2) | A | T | 12 | rs1063955 | Benign |
5389 | O75469 (NR1I2) | E | K | 18 | rs59371185 | Benign |
5390 | O75469 (NR1I2) | P | S | 27 | rs12721613 | Benign |
5391 | O75469 (NR1I2) | G | R | 36 | rs12721607 | Benign |
5392 | O75469 (NR1I2) | R | C | 98 | rs72551371 | Benign |
5393 | O75469 (NR1I2) | R | Q | 122 | rs12721608 | Benign |
5394 | O75469 (NR1I2) | R | Q | 148 | rs72551373 | Benign |
5395 | O75469 (NR1I2) | A | T | 370 | rs35761343 | Benign |
5396 | O75469 (NR1I2) | R | W | 381 | rs72551375 | Benign |
5397 | O75469 (NR1I2) | I | V | 403 | rs72551376 | Benign |
5398 | O75473 (LGR5) | H | R | 383 | rs12303775 | Benign |
5399 | O75473 (LGR5) | V | A | 666 | rs17109924 | Benign |
5400 | O75477 (ERLIN1) | G | V | 50 | rs876661322 | Disease: Spastic paraplegia 62, autosomal recessive (SPG62) [MIM:615681] |
5401 | O75478 (TADA2A) | P | S | 6 | rs7211875 | Benign |
5402 | O75478 (TADA2A) | M | V | 115 | rs1054865 | Benign |
5403 | O75478 (TADA2A) | I | M | 351 | rs2522969 | Benign |
5404 | O75486 (SUPT3H) | D | A | 242 | rs16872923 | Benign |
5405 | O75487 (GPC4) | E | D | 391 | rs1129980 | Benign |
5406 | O75487 (GPC4) | A | V | 442 | rs1048369 | Benign |
5407 | O75489 (NDUFS3) | T | I | 145 | rs28939714 | Disease: Mitochondria l complex I deficiency, nuclear type 8 (MC1DN8) [MIM:618230] |
5408 | O75489 (NDUFS3) | R | W | 199 | rs104894270 | Disease: Mitochondria l complex I deficiency, nuclear type 8 (MC1DN8) [MIM:618230] |
5409 | O75489 (NDUFS3) | P | Q | 249 | rs9600 | Benign |
5410 | O75496 (GMNN) | N | H | 15 | rs34891389 | Benign |
5411 | O75496 (GMNN) | K | R | 17 | rs864309488 | Disease: Meier-Gorlin syndrome 6 (MGORS6) [MIM:616835] |
5412 | O75496 (GMNN) | N | T | 18 | rs1923185 | Benign |
5413 | O75496 (GMNN) | L | F | 48 | rs2307307 | Benign |
5414 | O75496 (GMNN) | R | W | 54 | rs2307306 | Benign |
5415 | O75496 (GMNN) | S | P | 60 | rs2307302 | Benign |
5416 | O75496 (GMNN) | T | M | 203 | rs2307303 | Benign |
5417 | O75503 (CLN5) | W | R | 26 | rs199727787 | Benign |
5418 | O75503 (CLN5) | R | H | 63 | rs104894386 | Disease: Ceroid lipofuscinos is, neuronal, 5 (CLN5) [MIM:256731] |
5419 | O75503 (CLN5) | R | P | 63 | rs104894386 | Disease: Ceroid lipofuscinos is, neuronal, 5 (CLN5) [MIM:256731] |
5420 | O75503 (CLN5) | C | Y | 77 | rs267606738 | Disease: Ceroid lipofuscinos is, neuronal, 5 (CLN5) [MIM:256731] |
5421 | O75503 (CLN5) | N | S | 143 | rs386833975 | Disease: Ceroid lipofuscinos is, neuronal, 5 (CLN5) [MIM:256731] |
5422 | O75503 (CLN5) | L | P | 149 | rs386833976 | Disease: Ceroid lipofuscinos is, neuronal, 5 (CLN5) [MIM:256731] |
5423 | O75503 (CLN5) | P | S | 156 | rs386833977 | Disease: Ceroid lipofuscinos is, neuronal, 5 (CLN5) [MIM:256731] |
5424 | O75503 (CLN5) | W | R | 158 | rs147065248 | Disease: Ceroid lipofuscinos is, neuronal, 5 (CLN5) [MIM:256731] |
5425 | O75503 (CLN5) | W | S | 158 | rs386833978 | Disease: Ceroid lipofuscinos is, neuronal, 5 (CLN5) [MIM:256731] |
5426 | O75503 (CLN5) | N | K | 193 | rs138611001 | Benign |
5427 | O75503 (CLN5) | Y | D | 209 | rs386833981 | Disease: Ceroid lipofuscinos is, neuronal, 5 (CLN5) [MIM:256731] |
5428 | O75503 (CLN5) | E | A | 219 | rs11842935 | Benign |
5429 | O75503 (CLN5) | D | N | 230 | rs28940280 | Disease: Ceroid lipofuscinos is, neuronal, 5 (CLN5) [MIM:256731] |
5430 | O75503 (CLN5) | K | R | 319 | rs1800209 | Benign |
5431 | O75503 (CLN5) | Y | C | 325 | rs148862100 | Disease: Ceroid lipofuscinos is, neuronal, 5 (CLN5) [MIM:256731] |
5432 | O75503 (CLN5) | W | C | 330 | rs386833968 | Disease: Ceroid lipofuscinos is, neuronal, 5 (CLN5) [MIM:256731] |
5433 | O75521 (ECI2) | M | I | 47 | rs3177253 | Benign |
5434 | O75521 (ECI2) | A | V | 344 | rs7166 | Benign |
5435 | O75526 (RBMXL2) | L | F | 15 | rs17857474 | Benign |
5436 | O75526 (RBMXL2) | A | V | 66 | rs11041170 | Benign |
5437 | O75526 (RBMXL2) | T | A | 134 | rs11041171 | Benign |
5438 | O75526 (RBMXL2) | Y | C | 308 | rs17854944 | Benign |
5439 | O75530 (EED) | N | S | 194 | - | Disease: Cohen-Gibson syndrome (COGIS) [MIM:617561] |
5440 | O75530 (EED) | R | G | 236 | - | Disease: Cohen-Gibson syndrome (COGIS) [MIM:617561] |
5441 | O75530 (EED) | R | T | 236 | rs1131692176 | Disease: Cohen-Gibson syndrome (COGIS) [MIM:617561] |
5442 | O75530 (EED) | H | Y | 258 | rs1131692174 | Disease: Cohen-Gibson syndrome (COGIS) [MIM:617561] |
5443 | O75530 (EED) | R | G | 302 | rs1131692175 | Disease: Cohen-Gibson syndrome (COGIS) [MIM:617561] |
5444 | O75530 (EED) | R | S | 302 | rs1131692173 | Disease: Cohen-Gibson syndrome (COGIS) [MIM:617561] |
5445 | O75531 (BANF1) | A | T | 12 | rs387906871 | Disease: Nestor- Guillermo progeria syndrome (NGPS) [MIM:614008] |
5446 | O75553 (DAB1) | V | I | 71 | rs1855377 | Benign |
5447 | O75558 (STX11) | E | Q | 31 | rs1802414 | Benign |
5448 | O75558 (STX11) | R | Q | 49 | rs17073498 | Benign |
5449 | O75558 (STX11) | L | H | 204 | rs1133248 | Benign |
5450 | O75558 (STX11) | T | A | 277 | rs9496891 | Benign |
5451 | O75563 (SKAP2) | A | S | 202 | rs1129771 | Benign |
5452 | O75563 (SKAP2) | S | T | 253 | rs17154402 | Benign |
5453 | O75569 (PRKRA) | P | L | 222 | rs121434410 | Disease: Dystonia 16 (DYT16) [MIM:612067] |
5454 | O75570 (MTRF1) | N | S | 2 | rs9532758 | Benign |
5455 | O75570 (MTRF1) | L | V | 324 | rs9566725 | Benign |
5456 | O75570 (MTRF1) | I | V | 407 | rs9315812 | Benign |
5457 | O75578 (ITGA10) | R | Q | 381 | rs6665210 | Benign |
5458 | O75578 (ITGA10) | R | W | 668 | rs36073645 | Benign |
5459 | O75578 (ITGA10) | R | H | 691 | rs2274618 | Benign |
5460 | O75578 (ITGA10) | A | T | 702 | rs35515885 | Benign |
5461 | O75578 (ITGA10) | R | Q | 725 | rs2274616 | Benign |
5462 | O75581 (LRP6) | A | V | 19 | rs864309648 | Disease: Tooth agenesis, selective, 7 (STHAG7) [MIM:616724] |
5463 | O75581 (LRP6) | R | H | 360 | rs141212743 | Disease: Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947] |
5464 | O75581 (LRP6) | N | S | 433 | rs397515473 | Disease: Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947] |
5465 | O75581 (LRP6) | R | Q | 473 | rs397515474 | Disease: Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947] |
5466 | O75581 (LRP6) | V | I | 483 | rs7975614 | Benign |
5467 | O75581 (LRP6) | R | C | 611 | rs121918313 | Disease: Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947] |
5468 | O75581 (LRP6) | S | C | 817 | rs2302686 | Benign |
5469 | O75581 (LRP6) | V | I | 1062 | rs2302685 | Benign |
5470 | O75581 (LRP6) | R | H | 1401 | rs34815107 | Benign |
5471 | O75582 (RPS6KA5) | H | R | 190 | rs34699345 | Benign |
5472 | O75582 (RPS6KA5) | D | N | 554 | rs55911249 | Benign |
5473 | O75582 (RPS6KA5) | P | L | 574 | rs34604933 | Benign |
5474 | O75582 (RPS6KA5) | Y | C | 599 | rs55968863 | Benign |
5475 | O75592 (MYCBP2) | A | S | 1919 | rs35887505 | Benign |
5476 | O75592 (MYCBP2) | V | M | 2626 | rs9574002 | Benign |
5477 | O75594 (PGLYRP1) | V | G | 34 | rs34180629 | Benign |
5478 | O75596 (CLEC3A) | Q | K | 197 | rs2072663 | Benign |
5479 | O75600 (GCAT) | R | C | 39 | rs710187 | Benign |
5480 | O75600 (GCAT) | S | N | 100 | rs34468367 | Benign |
5481 | O75602 (SPAG6) | Q | R | 216 | rs7074847 | Benign |
5482 | O75603 (GCM2) | R | L | 47 | rs104893959 | Disease: Hypoparathyr oidism, familial isolated (FIH) [MIM:146200] |
5483 | O75603 (GCM2) | D | N | 53 | rs11963186 | Benign |
5484 | O75603 (GCM2) | G | S | 63 | rs104893960 | Disease: Hypoparathyr oidism, familial isolated (FIH) [MIM:146200] |
5485 | O75603 (GCM2) | R | W | 110 | rs780594439 | Disease: Hypoparathyr oidism, familial isolated (FIH) [MIM:146200] |
5486 | O75603 (GCM2) | A | V | 117 | rs35786951 | Benign |
5487 | O75603 (GCM2) | G | S | 203 | rs7744163 | Benign |
5488 | O75603 (GCM2) | I | V | 227 | rs35395043 | Benign |
5489 | O75603 (GCM2) | Q | E | 251 | rs1057519581 | Disease: Hyperparathy roidism 4 (HRPT4) [MIM:617343] |
5490 | O75603 (GCM2) | Y | D | 282 | rs61734277 | Benign |
5491 | O75603 (GCM2) | N | D | 315 | rs114070356 | Benign |
5492 | O75603 (GCM2) | L | Q | 379 | rs1057519582 | Disease: Hyperparathy roidism 4 (HRPT4) [MIM:617343] |
5493 | O75603 (GCM2) | Y | S | 394 | rs142287570 | Disease: Hyperparathy roidism 4 (HRPT4) [MIM:617343] |
5494 | O75603 (GCM2) | N | H | 502 | rs533942394 | Disease: Hypoparathyr oidism, familial isolated (FIH) [MIM:146200] |
5495 | O75604 (USP2) | R | Q | 174 | rs33929148 | Benign |
5496 | O75604 (USP2) | N | S | 383 | rs45533837 | Benign |
5497 | O75607 (NPM3) | S | N | 16 | rs34376117 | Benign |
5498 | O75607 (NPM3) | N | I | 80 | rs2735420 | Benign |
5499 | O75608 (LYPLA1) | P | S | 153 | rs11549448 | Benign |
5500 | O75610 (LEFTY1) | V | M | 57 | rs35273824 | Benign |
5501 | O75610 (LEFTY1) | L | S | 92 | rs145431393 | Benign |
5502 | O75610 (LEFTY1) | R | Q | 142 | rs191758097 | Benign |
5503 | O75610 (LEFTY1) | D | A | 322 | rs360057 | Benign |
5504 | O75616 (ERAL1) | N | I | 236 | rs1131692170 | Disease: Perrault syndrome 6 (PRLTS6) [MIM:617565] |
5505 | O75626 (PRDM1) | G | S | 74 | rs2185379 | Benign |
5506 | O75626 (PRDM1) | D | E | 203 | rs811925 | Benign |
5507 | O75628 (REM1) | H | R | 28 | rs1006459 | Benign |
5508 | O75628 (REM1) | R | W | 45 | rs59730832 | Benign |
5509 | O75628 (REM1) | P | A | 59 | rs2233829 | Benign |
5510 | O75631 (UPK3A) | Q | L | 91 | rs6006979 | Benign |
5511 | O75631 (UPK3A) | A | P | 154 | rs1057353 | Benign |
5512 | O75635 (SERPINB7) | R | Q | 266 | rs17782413 | Benign |
5513 | O75638 (CTAG2) | R | Q | 6 | rs17855367 | Benign |
5514 | O75638 (CTAG2) | E | Q | 89 | rs17328091 | Benign |
5515 | O75638 (CTAG2) | P | A | 99 | rs5987003 | Benign |
5516 | O75643 (SNRNP200) | C | R | 502 | - | Disease: Retinitis pigmentosa 33 (RP33) [MIM:610359] |
5517 | O75643 (SNRNP200) | A | V | 542 | - | Disease: Retinitis pigmentosa 33 (RP33) [MIM:610359] |
5518 | O75643 (SNRNP200) | R | C | 681 | rs959069360 | Disease: Retinitis pigmentosa 33 (RP33) [MIM:610359] |
5519 | O75643 (SNRNP200) | R | H | 681 | rs527236113 | Disease: Retinitis pigmentosa 33 (RP33) [MIM:610359] |
5520 | O75643 (SNRNP200) | P | S | 682 | - | Disease: Retinitis pigmentosa 33 (RP33) [MIM:610359] |
5521 | O75643 (SNRNP200) | Y | C | 689 | - | Disease: Retinitis pigmentosa 33 (RP33) [MIM:610359] |
5522 | O75643 (SNRNP200) | I | V | 698 | rs1457428682 | Disease: Retinitis pigmentosa 33 (RP33) [MIM:610359] |
5523 | O75643 (SNRNP200) | Q | E | 885 | rs397514575 | Disease: Retinitis pigmentosa 33 (RP33) [MIM:610359] |
5524 | O75643 (SNRNP200) | S | L | 1087 | rs267607077 | Disease: Retinitis pigmentosa 33 (RP33) [MIM:610359] |
5525 | O75643 (SNRNP200) | R | L | 1090 | rs397514574 | Disease: Retinitis pigmentosa 33 (RP33) [MIM:610359] |
5526 | O75643 (SNRNP200) | R | H | 1779 | rs749546665 | Disease: Retinitis pigmentosa 33 (RP33) [MIM:610359] |
5527 | O75643 (SNRNP200) | A | T | 1995 | rs201691299 | Benign |
5528 | O75648 (TRMU) | A | S | 10 | rs11090865 | Benign |
5529 | O75648 (TRMU) | G | S | 14 | rs751248771 | Benign |
5530 | O75648 (TRMU) | R | S | 25 | rs2272938 | Benign |
5531 | O75648 (TRMU) | Y | H | 77 | rs118203990 | Disease: Liver failure, infantile, transient (LFIT) [MIM:613070] |
5532 | O75648 (TRMU) | E | K | 148 | rs34012206 | Benign |
5533 | O75648 (TRMU) | G | D | 272 | rs118203991 | Disease: Liver failure, infantile, transient (LFIT) [MIM:613070] |
5534 | O75648 (TRMU) | V | M | 279 | rs387907022 | Benign |
5535 | O75648 (TRMU) | R | C | 398 | rs34152016 | Benign |
5536 | O75665 (OFD1) | S | F | 74 | rs312262812 | Disease: Orofaciodigi tal syndrome 1 (OFD1) [MIM:311200] |
5537 | O75665 (OFD1) | A | T | 79 | rs312262814 | Disease: Orofaciodigi tal syndrome 1 (OFD1) [MIM:311200] |
5538 | O75665 (OFD1) | G | S | 138 | rs312262827 | Disease: Orofaciodigi tal syndrome 1 (OFD1) [MIM:311200] |
5539 | O75665 (OFD1) | M | R | 141 | rs886039860 | Disease: Orofaciodigi tal syndrome 1 (OFD1) [MIM:311200] |
5540 | O75665 (OFD1) | S | R | 435 | rs122460150 | Disease: Orofaciodigi tal syndrome 1 (OFD1) [MIM:311200] |
5541 | O75674 (TOM1L1) | R | S | 108 | rs16955377 | Benign |
5542 | O75676 (RPS6KA4) | S | A | 758 | rs17857342 | Benign |
5543 | O75677 (RFPL1) | W | R | 94 | rs16987627 | Benign |
5544 | O75677 (RFPL1) | M | T | 127 | rs3804076 | Benign |
5545 | O75678 (RFPL2) | A | T | 119 | rs8135276 | Benign |
5546 | O75678 (RFPL2) | C | Y | 141 | rs136478 | Benign |
5547 | O75678 (RFPL2) | Q | H | 215 | rs56240743 | Benign |
5548 | O75678 (RFPL2) | T | S | 290 | rs136472 | Benign |
5549 | O75678 (RFPL2) | S | G | 324 | rs136470 | Benign |
5550 | O75678 (RFPL2) | R | C | 341 | rs136468 | Benign |
5551 | O75678 (RFPL2) | V | I | 348 | rs136467 | Benign |
5552 | O75679 (RFPL3) | M | T | 83 | rs16987625 | Benign |
5553 | O75679 (RFPL3) | L | M | 110 | rs9621427 | Benign |
5554 | O75679 (RFPL3) | D | N | 126 | rs9619258 | Benign |
5555 | O75679 (RFPL3) | Y | C | 181 | rs5749408 | Benign |
5556 | O75683 (SURF6) | R | W | 163 | rs886090 | Benign |
5557 | O75683 (SURF6) | T | M | 175 | rs886089 | Benign |
5558 | O75683 (SURF6) | R | Q | 193 | rs34657219 | Benign |
5559 | O75683 (SURF6) | N | H | 201 | rs35316446 | Benign |
5560 | O75683 (SURF6) | T | M | 311 | rs1800867 | Benign |
5561 | O75689 (ADAP1) | G | S | 241 | rs10256887 | Benign |
5562 | O75690 (KRTAP5-8) | C | R | 28 | rs55921335 | Benign |
5563 | O75691 (UTP20) | M | T | 120 | rs2290723 | Benign |
5564 | O75691 (UTP20) | S | C | 502 | rs4764643 | Benign |
5565 | O75691 (UTP20) | L | Q | 1882 | rs10082778 | Benign |
5566 | O75691 (UTP20) | E | Q | 2612 | rs1061436 | Benign |
5567 | O75694 (NUP155) | R | H | 391 | rs587777339 | Disease: Atrial fibrillation , familial, 15 (ATFB15) [MIM:615770] |
5568 | O75695 (RP2) | C | Y | 67 | - | Disease: Retinitis pigmentosa 2 (RP2) [MIM:312600] |
5569 | O75695 (RP2) | C | Y | 86 | - | Disease: Retinitis pigmentosa 2 (RP2) [MIM:312600] |
5570 | O75695 (RP2) | C | G | 108 | - | Disease: Retinitis pigmentosa 2 (RP2) [MIM:312600] |
5571 | O75695 (RP2) | C | Y | 108 | - | Disease: Retinitis pigmentosa 2 (RP2) [MIM:312600] |
5572 | O75695 (RP2) | R | C | 118 | rs1556318633 | Disease: Retinitis pigmentosa 2 (RP2) [MIM:312600] |
5573 | O75695 (RP2) | R | H | 118 | rs28933687 | Disease: Retinitis pigmentosa 2 (RP2) [MIM:312600] |
5574 | O75695 (RP2) | R | L | 118 | rs28933687 | Disease: Retinitis pigmentosa 2 (RP2) [MIM:312600] |
5575 | O75695 (RP2) | E | G | 138 | - | Disease: Retinitis pigmentosa 2 (RP2) [MIM:312600] |
5576 | O75695 (RP2) | K | R | 144 | rs3126141 | Benign |
5577 | O75695 (RP2) | L | P | 188 | - | Disease: Retinitis pigmentosa 2 (RP2) [MIM:312600] |
5578 | O75695 (RP2) | L | R | 253 | - | Disease: Retinitis pigmentosa 2 (RP2) [MIM:312600] |
5579 | O75695 (RP2) | R | W | 282 | rs1805147 | Benign |
5580 | O75695 (RP2) | D | Y | 338 | rs1805148 | Benign |
5581 | O75711 (SCRG1) | P | L | 42 | rs2306465 | Benign |
5582 | O75712 (GJB3) | G | D | 12 | rs74315316 | Disease: Erythrokerat odermia variabilis et progressiva 1 (EKVP1) [MIM:133200] |
5583 | O75712 (GJB3) | G | R | 12 | rs74315315 | Disease: Erythrokerat odermia variabilis et progressiva 1 (EKVP1) [MIM:133200] |
5584 | O75712 (GJB3) | R | W | 32 | rs1805063 | Benign |
5585 | O75712 (GJB3) | R | P | 42 | rs74315321 | Disease: Erythrokerat odermia variabilis et progressiva 1 (EKVP1) [MIM:133200] |
5586 | O75712 (GJB3) | C | S | 86 | rs74315317 | Disease: Erythrokerat odermia variabilis et progressiva 1 (EKVP1) [MIM:133200] |
5587 | O75712 (GJB3) | F | L | 137 | - | Disease: Erythrokerat odermia variabilis et progressiva 1 (EKVP1) [MIM:133200] |
5588 | O75712 (GJB3) | I | V | 141 | rs74315320 | Disease: Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644] |
5589 | O75712 (GJB3) | V | I | 200 | rs61734064 | Benign |
5590 | O75715 (GPX5) | L | P | 85 | rs58554303 | Benign |
5591 | O75715 (GPX5) | L | V | 85 | rs769188 | Benign |
5592 | O75716 (STK16) | H | R | 41 | rs34799131 | Benign |
5593 | O75716 (STK16) | E | K | 55 | rs35947471 | Benign |
5594 | O75716 (STK16) | I | V | 77 | rs34282267 | Benign |
5595 | O75716 (STK16) | R | W | 266 | rs17849638 | Benign |
5596 | O75716 (STK16) | P | L | 277 | rs35454203 | Benign |
5597 | O75717 (WDHD1) | F | L | 338 | rs8020032 | Benign |
5598 | O75717 (WDHD1) | L | P | 411 | rs17128116 | Benign |
5599 | O75717 (WDHD1) | E | K | 1102 | rs41309252 | Benign |
5600 | O75718 (CRTAP) | A | E | 13 | rs137853938 | Disease: Osteogenesis imperfecta 7 (OI7) [MIM:610682] |
5601 | O75718 (CRTAP) | L | P | 67 | rs72659358 | Disease: Osteogenesis imperfecta 7 (OI7) [MIM:610682] |
5602 | O75718 (CRTAP) | E | D | 137 | rs17850371 | Benign |
5603 | O75718 (CRTAP) | K | E | 157 | rs137853942 | Disease: Osteogenesis imperfecta 7 (OI7) [MIM:610682] |
5604 | O75718 (CRTAP) | L | V | 261 | rs1135127 | Benign |
5605 | O75746 (SLC25A12) | R | Q | 353 | rs886037851 | Disease: Epileptic encephalopat hy, early infantile, 39 (EIEE39) [MIM:612949] |
5606 | O75746 (SLC25A12) | R | Q | 473 | rs35565687 | Benign |
5607 | O75746 (SLC25A12) | Q | R | 590 | rs121434396 | Disease: Epileptic encephalopat hy, early infantile, 39 (EIEE39) [MIM:612949] |
5608 | O75747 (PIK3C2G) | P | L | 146 | rs11044004 | Benign |
5609 | O75747 (PIK3C2G) | A | E | 261 | rs7133666 | Benign |
5610 | O75747 (PIK3C2G) | P | L | 911 | rs12312266 | Benign |
5611 | O75747 (PIK3C2G) | V | G | 1290 | rs12099555 | Benign |
5612 | O75747 (PIK3C2G) | N | T | 1442 | rs12816860 | Benign |
5613 | O75751 (SLC22A3) | T | M | 44 | rs8187715 | Benign |
5614 | O75751 (SLC22A3) | A | S | 116 | rs8187717 | Benign |
5615 | O75752 (B3GALNT1) | D | N | 126 | rs2231257 | Benign |
5616 | O75752 (B3GALNT1) | E | A | 266 | rs28937582 | Benign |
5617 | O75752 (B3GALNT1) | G | R | 271 | rs104893683 | Benign |
5618 | O75762 (TRPA1) | R | C | 3 | rs13268757 | Benign |
5619 | O75762 (TRPA1) | R | T | 58 | rs16937976 | Benign |
5620 | O75762 (TRPA1) | E | K | 179 | rs920829 | Benign |
5621 | O75762 (TRPA1) | K | N | 186 | rs7819749 | Benign |
5622 | O75762 (TRPA1) | N | S | 855 | rs398123010 | Disease: Episodic pain syndrome, familial, 1 (FEPS1) [MIM:615040] |
5623 | O75762 (TRPA1) | H | R | 1018 | rs959976 | Benign |
5624 | O75771 (RAD51D) | C | S | 9 | rs140825795 | Benign |
5625 | O75771 (RAD51D) | R | S | 24 | rs28363257 | Benign |
5626 | O75771 (RAD51D) | R | Q | 165 | rs4796033 | Benign |
5627 | O75771 (RAD51D) | A | T | 225 | rs28363282 | Benign |
5628 | O75771 (RAD51D) | R | Q | 232 | rs28363283 | Benign |
5629 | O75771 (RAD51D) | E | G | 233 | rs28363284 | Benign |
5630 | O75781 (PALM) | T | A | 107 | rs1050457 | Benign |
5631 | O75787 (ATP6AP2) | R | H | 71 | rs1057523485 | Disease: - |
5632 | O75787 (ATP6AP2) | P | A | 90 | rs9014 | Benign |
5633 | O75787 (ATP6AP2) | L | S | 98 | - | Disease: - |
5634 | O75787 (ATP6AP2) | A | P | 290 | rs35798522 | Benign |
5635 | O75791 (GRAP2) | L | F | 319 | rs12759 | Benign |
5636 | O75792 (RNASEH2A) | G | S | 37 | rs76857106 | Disease: Aicardi- Goutieres syndrome 4 (AGS4) [MIM:610333] |
5637 | O75792 (RNASEH2A) | N | D | 99 | - | Benign |
5638 | O75792 (RNASEH2A) | R | W | 108 | rs76436818 | Disease: Aicardi- Goutieres syndrome 4 (AGS4) [MIM:610333] |
5639 | O75792 (RNASEH2A) | R | W | 186 | rs77103971 | Disease: Aicardi- Goutieres syndrome 4 (AGS4) [MIM:610333] |
5640 | O75792 (RNASEH2A) | L | S | 202 | rs7247284 | Benign |
5641 | O75792 (RNASEH2A) | D | E | 205 | rs62619782 | Benign |
5642 | O75792 (RNASEH2A) | F | L | 230 | rs79767407 | Disease: Aicardi- Goutieres syndrome 4 (AGS4) [MIM:610333] |
5643 | O75792 (RNASEH2A) | R | Q | 235 | rs75718910 | Disease: Aicardi- Goutieres syndrome 4 (AGS4) [MIM:610333] |
5644 | O75792 (RNASEH2A) | T | M | 240 | rs79843600 | Disease: Aicardi- Goutieres syndrome 4 (AGS4) [MIM:610333] |
5645 | O75792 (RNASEH2A) | A | G | 258 | rs15389 | Benign |
5646 | O75792 (RNASEH2A) | E | G | 260 | rs770898096 | Benign |
5647 | O75792 (RNASEH2A) | R | H | 291 | rs75037667 | Disease: Aicardi- Goutieres syndrome 4 (AGS4) [MIM:610333] |
5648 | O75800 (ZMYND10) | V | G | 16 | rs138815960 | Disease: Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444] |
5649 | O75800 (ZMYND10) | S | P | 29 | rs587621539 | Disease: Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444] |
5650 | O75800 (ZMYND10) | L | P | 39 | - | Disease: Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444] |
5651 | O75800 (ZMYND10) | L | P | 266 | rs200913791 | Disease: Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444] |
5652 | O75800 (ZMYND10) | R | W | 369 | rs142613783 | Benign |
5653 | O75800 (ZMYND10) | Y | C | 379 | rs753061612 | Disease: Ciliary dyskinesia, primary, 22 (CILD22) [MIM:615444] |
5654 | O75807 (PPP1R15A) | R | H | 31 | rs564196 | Benign |
5655 | O75807 (PPP1R15A) | A | T | 32 | rs3786734 | Benign |
5656 | O75807 (PPP1R15A) | V | A | 199 | rs611251 | Benign |
5657 | O75807 (PPP1R15A) | R | P | 251 | rs557806 | Benign |
5658 | O75807 (PPP1R15A) | K | E | 277 | rs610308 | Benign |
5659 | O75807 (PPP1R15A) | G | S | 312 | rs11541192 | Benign |
5660 | O75807 (PPP1R15A) | A | P | 316 | rs556052 | Benign |
5661 | O75807 (PPP1R15A) | A | V | 381 | rs1050166 | Benign |
5662 | O75807 (PPP1R15A) | R | S | 476 | rs35087747 | Benign |
5663 | O75807 (PPP1R15A) | R | C | 594 | rs2270946 | Benign |
5664 | O75807 (PPP1R15A) | T | A | 597 | rs500079 | Benign |
5665 | O75815 (BCAR3) | E | G | 464 | rs12062278 | Benign |
5666 | O75815 (BCAR3) | Q | H | 593 | rs17110107 | Benign |
5667 | O75818 (RPP40) | V | I | 314 | rs12332997 | Benign |
5668 | O75820 (ZNF189) | R | K | 221 | rs10989492 | Benign |
5669 | O75822 (EIF3J) | A | T | 141 | rs2303578 | Benign |
5670 | O75828 (CBR3) | C | Y | 4 | rs8133052 | Benign |
5671 | O75828 (CBR3) | L | V | 84 | rs9282628 | Benign |
5672 | O75828 (CBR3) | V | I | 93 | rs2835285 | Benign |
5673 | O75828 (CBR3) | P | S | 131 | rs16993929 | Benign |
5674 | O75828 (CBR3) | M | L | 235 | rs4987121 | Benign |
5675 | O75828 (CBR3) | V | M | 244 | rs1056892 | Benign |
5676 | O75829 (CNMD) | F | L | 116 | rs3742298 | Benign |
5677 | O75829 (CNMD) | V | I | 175 | rs7330220 | Benign |
5678 | O75830 (SERPINI2) | L | V | 6 | rs17246389 | Benign |
5679 | O75830 (SERPINI2) | E | G | 148 | rs9841174 | Benign |
5680 | O75838 (CIB2) | E | D | 64 | rs145415848 | Disease: Usher syndrome 1J (USH1J) [MIM:614869] |
5681 | O75838 (CIB2) | F | S | 91 | rs397515411 | Disease: Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] |
5682 | O75838 (CIB2) | C | W | 99 | rs370965183 | Disease: Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] |
5683 | O75838 (CIB2) | I | T | 123 | rs397515412 | Disease: Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] |
5684 | O75838 (CIB2) | R | W | 186 | rs370359511 | Disease: Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] |
5685 | O75841 (UPK1B) | Q | R | 113 | rs9840317 | Benign |
5686 | O75843 (AP1G2) | S | F | 377 | rs12897422 | Benign |
5687 | O75844 (ZMPSTE24) | T | A | 137 | rs17853725 | Benign |
5688 | O75844 (ZMPSTE24) | P | L | 248 | rs121908095 | Disease: Mandibuloacr al dysplasia with type B lipodystroph y (MADB) [MIM:608612] |
5689 | O75844 (ZMPSTE24) | N | S | 265 | rs281875371 | Disease: Mandibuloacr al dysplasia with type B lipodystroph y (MADB) [MIM:608612] |
5690 | O75844 (ZMPSTE24) | W | R | 340 | rs121908093 | Disease: Mandibuloacr al dysplasia with type B lipodystroph y (MADB) [MIM:608612] |
5691 | O75845 (SC5D) | R | Q | 29 | rs104894295 | Disease: Lathosterolo sis (LATHST) [MIM:607330] |
5692 | O75845 (SC5D) | Y | S | 46 | rs104894297 | Disease: Lathosterolo sis (LATHST) [MIM:607330] |
5693 | O75845 (SC5D) | G | D | 211 | rs104894296 | Disease: Lathosterolo sis (LATHST) [MIM:607330] |
5694 | O75871 (CEACAM4) | H | D | 29 | rs1126454 | Benign |
5695 | O75871 (CEACAM4) | K | R | 69 | rs3848568 | Benign |
5696 | O75874 (IDH1) | V | I | 178 | rs34218846 | Benign |
5697 | O75879 (GATB) | A | D | 30 | rs11556167 | Benign |
5698 | O75880 (SCO1) | P | S | 58 | rs1802083 | Benign |
5699 | O75880 (SCO1) | P | L | 174 | rs104894630 | Disease: Mitochondria l complex IV deficiency (MT-C4D) [MIM:220110] |
5700 | O75881 (CYP7B1) | L | P | 19 | rs72554624 | Benign |
5701 | O75881 (CYP7B1) | G | R | 57 | rs121908614 | Disease: Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] |
5702 | O75881 (CYP7B1) | G | V | 87 | rs587777221 | Disease: Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] |
5703 | O75881 (CYP7B1) | H | Y | 106 | - | Benign |
5704 | O75881 (CYP7B1) | F | S | 216 | rs121908612 | Disease: Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] |
5705 | O75881 (CYP7B1) | H | L | 285 | rs750781606 | Disease: Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] |
5706 | O75881 (CYP7B1) | L | S | 287 | - | Benign |
5707 | O75881 (CYP7B1) | T | A | 297 | rs587777222 | Disease: Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] |
5708 | O75881 (CYP7B1) | R | H | 324 | rs59035258 | Benign |
5709 | O75881 (CYP7B1) | S | F | 363 | rs121908610 | Disease: Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] |
5710 | O75881 (CYP7B1) | R | C | 417 | rs367916692 | Disease: Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] |
5711 | O75881 (CYP7B1) | R | H | 417 | rs121908611 | Disease: Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] |
5712 | O75881 (CYP7B1) | G | A | 443 | rs1190562443 | Disease: Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] |
5713 | O75881 (CYP7B1) | F | I | 470 | rs267606758 | Disease: Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] |
5714 | O75881 (CYP7B1) | R | C | 486 | rs116171274 | Disease: Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800] |
5715 | O75882 (ATRN) | D | A | 303 | rs6107308 | Benign |
5716 | O75882 (ATRN) | I | T | 426 | rs17782078 | Benign |
5717 | O75882 (ATRN) | R | K | 1152 | rs3886999 | Benign |
5718 | O75882 (ATRN) | V | I | 1226 | rs12329487 | Benign |
5719 | O75888 (TNFSF13) | G | R | 67 | rs11552708 | Benign |
5720 | O75888 (TNFSF13) | N | S | 96 | rs3803800 | Benign |
5721 | O75891 (ALDH1L1) | L | P | 254 | rs3796191 | Benign |
5722 | O75891 (ALDH1L1) | V | F | 330 | rs2886059 | Benign |
5723 | O75891 (ALDH1L1) | E | A | 429 | rs9282691 | Benign |
5724 | O75891 (ALDH1L1) | A | T | 436 | rs9282692 | Benign |
5725 | O75891 (ALDH1L1) | S | N | 448 | rs9282697 | Benign |
5726 | O75891 (ALDH1L1) | S | G | 481 | rs2276724 | Benign |
5727 | O75891 (ALDH1L1) | D | G | 793 | rs1127717 | Benign |
5728 | O75891 (ALDH1L1) | E | K | 803 | rs9282689 | Benign |
5729 | O75891 (ALDH1L1) | I | V | 812 | rs4646750 | Benign |
5730 | O75897 (SULT1C4) | D | E | 5 | rs1402467 | Benign |
5731 | O75897 (SULT1C4) | I | M | 68 | rs41322445 | Benign |
5732 | O75899 (GABBR2) | L | P | 163 | rs35449008 | Benign |
5733 | O75899 (GABBR2) | A | T | 567 | rs922847767 | Disease: Neurodevelop mental disorder with poor language and loss of hand skills (NDPLHS) [MIM:617903] |
5734 | O75899 (GABBR2) | Y | F | 628 | - | Benign |
5735 | O75899 (GABBR2) | S | I | 695 | rs1554689319 | Disease: Epileptic encephalopat hy, early infantile, 59 (EIEE59) [MIM:617904] |
5736 | O75899 (GABBR2) | I | N | 705 | rs1554689315 | Disease: Epileptic encephalopat hy, early infantile, 59 (EIEE59) [MIM:617904] |
5737 | O75899 (GABBR2) | A | T | 707 | rs1554689313 | Disease: Neurodevelop mental disorder with poor language and loss of hand skills (NDPLHS) [MIM:617903] |
5738 | O75899 (GABBR2) | T | A | 869 | rs10985765 | Benign |
5739 | O75900 (MMP23B) | F | L | 91 | - | Benign |
5740 | O75901 (RASSF9) | A | T | 285 | rs7397266 | Benign |
5741 | O75908 (SOAT2) | E | G | 14 | rs9658625 | Benign |
5742 | O75908 (SOAT2) | T | I | 254 | rs2272296 | Benign |
5743 | O75909 (CCNK) | K | E | 111 | - | Disease: Intellectual developmenta l disorder with hyperteloris m and distinctive facies (IDDHDF) [MIM:618147] |
5744 | O75911 (DHRS3) | V | A | 2 | rs1128251 | Benign |
5745 | O75912 (DGKI) | L | F | 153 | rs61757580 | Benign |
5746 | O75914 (PAK3) | R | C | 67 | rs121434612 | Disease: Mental retardation, X-linked 30 (MRX30) [MIM:300558] |
5747 | O75914 (PAK3) | A | E | 380 | rs121434613 | Disease: Mental retardation, X-linked 30 (MRX30) [MIM:300558] |
5748 | O75916 (RGS9) | S | L | 258 | rs12452285 | Benign |
5749 | O75916 (RGS9) | W | R | 299 | rs121908449 | Disease: Prolonged electroretin al response suppression (PERRS) [MIM:608415] |
5750 | O75923 (DYSF) | W | R | 52 | rs1553508863 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5751 | O75923 (DYSF) | V | D | 67 | rs121908957 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5752 | O75923 (DYSF) | A | V | 84 | rs772008300 | Benign |
5753 | O75923 (DYSF) | G | R | 155 | rs200970855 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5754 | O75923 (DYSF) | A | E | 170 | rs34999029 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5755 | O75923 (DYSF) | L | V | 189 | rs13407355 | Benign |
5756 | O75923 (DYSF) | G | E | 234 | rs141497053 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5757 | O75923 (DYSF) | R | W | 253 | rs149827237 | Benign |
5758 | O75923 (DYSF) | I | T | 284 | rs1553522164 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5759 | O75923 (DYSF) | G | E | 299 | rs1258728780 | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5760 | O75923 (DYSF) | G | R | 299 | rs121908963 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5761 | O75923 (DYSF) | G | W | 299 | rs121908963 | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5762 | O75923 (DYSF) | G | A | 335 | - | Benign |
5763 | O75923 (DYSF) | S | R | 340 | rs766891289 | Benign |
5764 | O75923 (DYSF) | E | Q | 389 | - | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5765 | O75923 (DYSF) | D | N | 390 | rs886042389 | Benign |
5766 | O75923 (DYSF) | G | R | 426 | rs886042093 | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5767 | O75923 (DYSF) | G | V | 426 | - | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5768 | O75923 (DYSF) | C | W | 456 | - | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5769 | O75923 (DYSF) | G | R | 519 | rs121908962 | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5770 | O75923 (DYSF) | R | W | 555 | rs377735262 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5771 | O75923 (DYSF) | G | R | 618 | rs201049092 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5772 | O75923 (DYSF) | G | R | 621 | rs886043900 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5773 | O75923 (DYSF) | D | Y | 625 | rs121908960 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5774 | O75923 (DYSF) | P | R | 731 | - | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5775 | O75923 (DYSF) | P | R | 791 | rs121908956 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5776 | O75923 (DYSF) | R | Q | 819 | rs748636047 | Benign |
5777 | O75923 (DYSF) | I | V | 834 | rs34671418 | Benign |
5778 | O75923 (DYSF) | R | W | 959 | rs202218890 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5779 | O75923 (DYSF) | W | C | 999 | rs28937581 | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5780 | O75923 (DYSF) | P | L | 1029 | - | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5781 | O75923 (DYSF) | R | Q | 1038 | rs150877497 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5782 | O75923 (DYSF) | R | C | 1041 | rs144598063 | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5783 | O75923 (DYSF) | R | H | 1046 | rs121908958 | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5784 | O75923 (DYSF) | A | P | 1072 | rs34660230 | Benign |
5785 | O75923 (DYSF) | R | H | 1096 | rs59915619 | Benign |
5786 | O75923 (DYSF) | I | M | 1208 | rs148858485 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5787 | O75923 (DYSF) | L | P | 1228 | - | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5788 | O75923 (DYSF) | R | H | 1242 | rs2303603 | Benign |
5789 | O75923 (DYSF) | I | V | 1298 | rs121908954 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5790 | O75923 (DYSF) | I | V | 1325 | rs145401010 | Benign |
5791 | O75923 (DYSF) | R | L | 1331 | rs61742872 | Benign |
5792 | O75923 (DYSF) | E | K | 1335 | rs758993965 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5793 | O75923 (DYSF) | L | P | 1341 | rs757917335 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5794 | O75923 (DYSF) | N | S | 1351 | rs139529811 | Benign |
5795 | O75923 (DYSF) | C | R | 1361 | rs776472879 | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5796 | O75923 (DYSF) | Y | C | 1505 | rs757820496 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5797 | O75923 (DYSF) | K | T | 1526 | rs76086153 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5798 | O75923 (DYSF) | G | D | 1543 | - | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5799 | O75923 (DYSF) | R | H | 1581 | rs185596534 | Benign |
5800 | O75923 (DYSF) | T | R | 1662 | - | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5801 | O75923 (DYSF) | C | S | 1678 | rs753279446 | Benign |
5802 | O75923 (DYSF) | G | E | 1679 | - | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5803 | O75923 (DYSF) | R | Q | 1693 | rs779987458 | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5804 | O75923 (DYSF) | R | W | 1693 | rs863225021 | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5805 | O75923 (DYSF) | E | G | 1734 | rs121908961 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5806 | O75923 (DYSF) | D | N | 1837 | rs398123794 | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5807 | O75923 (DYSF) | G | D | 1842 | - | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5808 | O75923 (DYSF) | H | R | 1857 | rs199601326 | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5809 | O75923 (DYSF) | L | P | 1922 | - | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5810 | O75923 (DYSF) | C | G | 1942 | - | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5811 | O75923 (DYSF) | G | S | 1967 | - | Benign |
5812 | O75923 (DYSF) | P | S | 1970 | rs1057521141 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5813 | O75923 (DYSF) | R | Q | 2000 | rs115407852 | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5814 | O75923 (DYSF) | R | C | 2042 | rs121908955 | Disease: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601] |
5815 | O75923 (DYSF) | P | L | 2068 | rs149732545 | Disease: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] |
5816 | O75928 (PIAS2) | V | A | 207 | rs16940108 | Benign |
5817 | O75943 (RAD17) | V | I | 32 | rs17229831 | Benign |
5818 | O75943 (RAD17) | R | L | 487 | rs17236478 | Benign |
5819 | O75943 (RAD17) | K | E | 535 | rs17236485 | Benign |
5820 | O75943 (RAD17) | L | R | 557 | rs1045051 | Benign |
5821 | O75949 (FAM155B) | L | P | 172 | rs1171942 | Benign |
5822 | O75951 (LYZL6) | F | S | 139 | rs9754 | Benign |
5823 | O75952 (CABYR) | T | M | 74 | rs3786417 | Benign |
5824 | O75952 (CABYR) | I | V | 186 | rs35118855 | Benign |
5825 | O75952 (CABYR) | K | R | 448 | rs1049682 | Benign |
5826 | O75952 (CABYR) | S | A | 490 | rs1049683 | Benign |
5827 | O75955 (FLOT1) | S | N | 52 | rs3180825 | Benign |
5828 | O75962 (TRIO) | S | T | 291 | rs55772118 | Benign |
5829 | O75962 (TRIO) | D | E | 348 | rs16903367 | Benign |
5830 | O75962 (TRIO) | R | Q | 1428 | rs879255626 | Disease: Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061] |
5831 | O75962 (TRIO) | P | T | 1461 | rs879255627 | Disease: Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061] |
5832 | O75962 (TRIO) | A | T | 1613 | rs16903474 | Benign |
5833 | O75962 (TRIO) | T | M | 1644 | rs55687522 | Benign |
5834 | O75962 (TRIO) | H | R | 1690 | rs56292586 | Benign |
5835 | O75962 (TRIO) | T | M | 2242 | rs55916212 | Benign |
5836 | O75969 (AKAP3) | G | E | 118 | rs2072355 | Benign |
5837 | O75969 (AKAP3) | T | S | 464 | rs11063266 | Benign |
5838 | O75969 (AKAP3) | I | T | 500 | rs12366671 | Benign |
5839 | O75969 (AKAP3) | E | K | 525 | rs1990312 | Benign |
5840 | O75969 (AKAP3) | I | T | 661 | rs1990313 | Benign |
5841 | O75969 (AKAP3) | S | F | 700 | rs2041291 | Benign |
5842 | O75969 (AKAP3) | S | P | 700 | rs2041290 | Benign |
5843 | O75969 (AKAP3) | S | L | 725 | rs2072357 | Benign |
5844 | O75970 (MPDZ) | S | L | 92 | rs17273542 | Benign |
5845 | O75970 (MPDZ) | L | F | 351 | rs3739757 | Benign |
5846 | O75970 (MPDZ) | E | K | 702 | rs4741289 | Benign |
5847 | O75970 (MPDZ) | E | V | 702 | rs4740548 | Benign |
5848 | O75970 (MPDZ) | T | A | 1604 | rs16930134 | Benign |
5849 | O75970 (MPDZ) | G | R | 1663 | rs2274648 | Benign |
5850 | O75976 (CPD) | K | E | 36 | rs17857300 | Benign |
5851 | O75976 (CPD) | E | G | 454 | rs17857301 | Benign |
5852 | O75976 (CPD) | H | N | 505 | rs17854355 | Benign |
5853 | O75976 (CPD) | T | I | 899 | rs1860543 | Benign |
5854 | O76001 (OR2J3) | T | A | 113 | rs28757581 | Benign |
5855 | O76001 (OR2J3) | R | Q | 226 | rs3749977 | Benign |
5856 | O76001 (OR2J3) | V | I | 228 | rs3130764 | Benign |
5857 | O76001 (OR2J3) | I | M | 261 | rs3130765 | Benign |
5858 | O76002 (OR2J2) | H | Y | 74 | rs3116855 | Benign |
5859 | O76002 (OR2J2) | A | T | 111 | rs3129157 | Benign |
5860 | O76002 (OR2J2) | A | V | 146 | rs3116856 | Benign |
5861 | O76002 (OR2J2) | A | T | 218 | rs3130743 | Benign |
5862 | O76003 (GLRX3) | Q | H | 21 | rs13991 | Benign |
5863 | O76003 (GLRX3) | P | S | 123 | rs2274217 | Benign |
5864 | O76009 (KRT33A) | A | V | 270 | rs12937519 | Benign |
5865 | O76011 (KRT34) | I | T | 280 | rs2239710 | Benign |
5866 | O76011 (KRT34) | H | R | 348 | rs2071599 | Benign |
5867 | O76013 (KRT36) | A | V | 119 | rs8082683 | Benign |
5868 | O76013 (KRT36) | Q | R | 126 | rs8069943 | Benign |
5869 | O76013 (KRT36) | R | Q | 179 | rs9675246 | Benign |
5870 | O76013 (KRT36) | R | C | 277 | rs9904102 | Benign |
5871 | O76013 (KRT36) | T | M | 315 | rs2301354 | Benign |
5872 | O76013 (KRT36) | N | T | 357 | rs11657323 | Benign |
5873 | O76014 (KRT37) | G | C | 13 | rs9910204 | Benign |
5874 | O76014 (KRT37) | N | S | 39 | rs9916724 | Benign |
5875 | O76014 (KRT37) | T | A | 72 | rs9916484 | Benign |
5876 | O76014 (KRT37) | S | C | 73 | rs9916475 | Benign |
5877 | O76014 (KRT37) | A | V | 217 | rs16966811 | Benign |
5878 | O76014 (KRT37) | A | D | 306 | rs2071607 | Benign |
5879 | O76014 (KRT37) | S | F | 421 | rs35371972 | Benign |
5880 | O76014 (KRT37) | T | M | 422 | rs8071814 | Benign |
5881 | O76014 (KRT37) | P | S | 434 | rs17737019 | Benign |
5882 | O76015 (KRT38) | S | P | 423 | rs897416 | Benign |
5883 | O76024 (WFS1) | P | L | 16 | rs34653805 | Benign |
5884 | O76024 (WFS1) | A | V | 58 | rs369671890 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5885 | O76024 (WFS1) | G | R | 107 | - | Benign |
5886 | O76024 (WFS1) | Y | N | 110 | - | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5887 | O76024 (WFS1) | A | T | 126 | rs145639028 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5888 | O76024 (WFS1) | A | T | 133 | rs372249044 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5889 | O76024 (WFS1) | E | K | 169 | rs148953711 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5890 | O76024 (WFS1) | D | N | 171 | rs758281375 | Disease: Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] |
5891 | O76024 (WFS1) | K | Q | 193 | rs41264699 | Benign |
5892 | O76024 (WFS1) | P | S | 292 | rs746923441 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5893 | O76024 (WFS1) | I | S | 296 | - | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5894 | O76024 (WFS1) | A | V | 326 | rs369795224 | Benign |
5895 | O76024 (WFS1) | V | I | 333 | rs1801212 | Benign |
5896 | O76024 (WFS1) | G | R | 437 | rs147974629 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5897 | O76024 (WFS1) | S | I | 443 | - | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5898 | O76024 (WFS1) | R | H | 456 | rs1801208 | Benign |
5899 | O76024 (WFS1) | R | S | 457 | rs113446173 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5900 | O76024 (WFS1) | E | G | 462 | rs398123066 | Disease: Cataract 41 (CTRCT41) [MIM:116400] |
5901 | O76024 (WFS1) | P | L | 504 | rs28937892 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5902 | O76024 (WFS1) | R | C | 558 | rs199946797 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5903 | O76024 (WFS1) | A | T | 559 | rs55814513 | Benign |
5904 | O76024 (WFS1) | G | S | 576 | rs1805069 | Benign |
5905 | O76024 (WFS1) | A | V | 602 | rs2230720 | Benign |
5906 | O76024 (WFS1) | R | H | 611 | rs734312 | Benign |
5907 | O76024 (WFS1) | R | W | 629 | rs71530910 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5908 | O76024 (WFS1) | K | T | 634 | rs104893882 | Disease: Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] |
5909 | O76024 (WFS1) | Y | C | 669 | rs1402999203 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5910 | O76024 (WFS1) | Y | H | 669 | - | Disease: Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] |
5911 | O76024 (WFS1) | G | R | 674 | rs200672755 | Benign |
5912 | O76024 (WFS1) | A | V | 684 | rs387906930 | Disease: Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296] |
5913 | O76024 (WFS1) | R | P | 685 | rs142668478 | Disease: Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] |
5914 | O76024 (WFS1) | C | R | 690 | rs754373473 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5915 | O76024 (WFS1) | G | V | 695 | rs28937891 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5916 | O76024 (WFS1) | H | Y | 696 | - | Disease: Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] |
5917 | O76024 (WFS1) | T | M | 699 | rs28937894 | Disease: Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] |
5918 | O76024 (WFS1) | W | C | 700 | - | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5919 | O76024 (WFS1) | R | H | 703 | rs1323852277 | Disease: Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] |
5920 | O76024 (WFS1) | R | C | 708 | rs200099217 | Benign |
5921 | O76024 (WFS1) | A | T | 716 | rs28937893 | Disease: Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] |
5922 | O76024 (WFS1) | I | V | 720 | rs1805070 | Benign |
5923 | O76024 (WFS1) | P | L | 724 | rs28937890 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5924 | O76024 (WFS1) | G | S | 736 | rs71532864 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5925 | O76024 (WFS1) | E | K | 737 | rs147834269 | Benign |
5926 | O76024 (WFS1) | V | M | 779 | rs141328044 | Disease: Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] |
5927 | O76024 (WFS1) | G | R | 780 | - | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5928 | O76024 (WFS1) | G | S | 780 | rs387906931 | Disease: Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296] |
5929 | O76024 (WFS1) | D | Y | 797 | - | Disease: Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296] |
5930 | O76024 (WFS1) | I | V | 802 | rs746922325 | Benign |
5931 | O76024 (WFS1) | R | C | 818 | rs35932623 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5932 | O76024 (WFS1) | L | P | 829 | rs104893883 | Disease: Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] |
5933 | O76024 (WFS1) | G | D | 831 | rs28937895 | Disease: Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] |
5934 | O76024 (WFS1) | K | N | 836 | rs876657675 | Disease: Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296] |
5935 | O76024 (WFS1) | R | Q | 859 | rs121912618 | Disease: Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965] |
5936 | O76024 (WFS1) | E | K | 864 | rs74315205 | Disease: Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296] |
5937 | O76024 (WFS1) | V | M | 871 | rs71532874 | Benign |
5938 | O76024 (WFS1) | P | L | 885 | rs372855769 | Disease: Wolfram syndrome 1 (WFS1) [MIM:222300] |
5939 | O76027 (ANXA9) | A | T | 28 | rs16832595 | Benign |
5940 | O76027 (ANXA9) | T | A | 114 | rs7536645 | Benign |
5941 | O76027 (ANXA9) | A | T | 119 | rs16832602 | Benign |
5942 | O76027 (ANXA9) | D | G | 166 | rs267733 | Benign |
5943 | O76027 (ANXA9) | R | Q | 225 | rs775255778 | Benign |
5944 | O76027 (ANXA9) | R | Q | 232 | rs7542365 | Benign |
5945 | O76031 (CLPX) | G | D | 298 | - | Disease: Protoporphyr ia, erythropoiet ic, 2 (EPP2) [MIM:618015] |
5946 | O76031 (CLPX) | I | T | 488 | rs35754835 | Benign |
5947 | O76036 (NCR1) | K | Q | 82 | rs2278428 | Benign |
5948 | O76038 (SCGN) | A | V | 216 | rs6942245 | Benign |
5949 | O76039 (CDKL5) | A | V | 40 | rs122460159 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5950 | O76039 (CDKL5) | I | N | 72 | rs62641235 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5951 | O76039 (CDKL5) | I | T | 72 | rs62641235 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5952 | O76039 (CDKL5) | H | R | 127 | rs267608468 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5953 | O76039 (CDKL5) | C | F | 152 | rs122460157 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5954 | O76039 (CDKL5) | R | S | 175 | rs61749700 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5955 | O76039 (CDKL5) | R | P | 178 | rs267606715 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5956 | O76039 (CDKL5) | R | Q | 178 | rs267606715 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5957 | O76039 (CDKL5) | R | W | 178 | rs267608493 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5958 | O76039 (CDKL5) | P | L | 180 | rs61749704 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5959 | O76039 (CDKL5) | L | P | 182 | - | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5960 | O76039 (CDKL5) | S | L | 196 | rs267608501 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5961 | O76039 (CDKL5) | G | E | 207 | - | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5962 | O76039 (CDKL5) | L | P | 220 | rs267608511 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5963 | O76039 (CDKL5) | T | I | 288 | rs267606713 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5964 | O76039 (CDKL5) | C | Y | 291 | rs267606714 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5965 | O76039 (CDKL5) | N | T | 399 | rs267608611 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5966 | O76039 (CDKL5) | R | C | 444 | rs61753977 | Benign |
5967 | O76039 (CDKL5) | P | L | 647 | - | Disease: - |
5968 | O76039 (CDKL5) | V | M | 718 | rs267608653 | Disease: Epileptic encephalopat hy, early infantile, 2 (EIEE2) [MIM:300672] |
5969 | O76039 (CDKL5) | T | A | 734 | rs55803460 | Benign |
5970 | O76039 (CDKL5) | Q | P | 791 | rs35478150 | Benign |
5971 | O76039 (CDKL5) | R | C | 923 | rs267608664 | Benign |
5972 | O76039 (CDKL5) | V | M | 999 | rs35693326 | Benign |
5973 | O76039 (CDKL5) | E | G | 1023 | rs34166184 | Benign |
5974 | O76041 (NEBL) | Q | H | 187 | rs75301590 | Benign |
5975 | O76041 (NEBL) | A | D | 219 | rs2296610 | Benign |
5976 | O76041 (NEBL) | M | V | 351 | rs4025981 | Benign |
5977 | O76041 (NEBL) | D | H | 378 | rs41277370 | Benign |
5978 | O76041 (NEBL) | N | K | 654 | rs4748728 | Benign |
5979 | O76041 (NEBL) | T | A | 728 | rs71535732 | Benign |
5980 | O76054 (SEC14L2) | R | K | 11 | rs757660 | Benign |
5981 | O76062 (TM7SF2) | A | V | 119 | rs11539360 | Benign |
5982 | O76062 (TM7SF2) | T | I | 299 | rs1129195 | Benign |
5983 | O76064 (RNF8) | A | T | 162 | rs34338974 | Benign |
5984 | O76064 (RNF8) | I | V | 473 | rs1139944 | Benign |
5985 | O76070 (SNCG) | E | V | 110 | rs9864 | Benign |
5986 | O76074 (PDE5A) | A | V | 93 | rs3733526 | Benign |
5987 | O76074 (PDE5A) | S | A | 181 | rs17051276 | Benign |
5988 | O76075 (DFFB) | R | K | 196 | rs12738235 | Benign |
5989 | O76075 (DFFB) | K | R | 277 | rs12564400 | Benign |
5990 | O76076 (CCN5) | R | Q | 59 | rs33932543 | Benign |
5991 | O76082 (SLC22A5) | G | W | 15 | rs267607052 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
5992 | O76082 (SLC22A5) | P | L | 16 | - | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
5993 | O76082 (SLC22A5) | F | L | 17 | rs11568520 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
5994 | O76082 (SLC22A5) | R | P | 19 | rs72552723 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
5995 | O76082 (SLC22A5) | S | N | 26 | rs772578415 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
5996 | O76082 (SLC22A5) | S | I | 28 | rs72552724 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
5997 | O76082 (SLC22A5) | N | S | 32 | rs72552725 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
5998 | O76082 (SLC22A5) | A | V | 44 | rs199689597 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
5999 | O76082 (SLC22A5) | P | L | 46 | rs377767445 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6000 | O76082 (SLC22A5) | P | S | 46 | rs202088921 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6001 | O76082 (SLC22A5) | C | Y | 50 | - | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6002 | O76082 (SLC22A5) | T | P | 66 | - | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6003 | O76082 (SLC22A5) | R | P | 75 | rs757711838 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6004 | O76082 (SLC22A5) | R | L | 83 | rs72552726 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6005 | O76082 (SLC22A5) | S | W | 93 | rs386134190 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6006 | O76082 (SLC22A5) | G | A | 96 | rs377767450 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6007 | O76082 (SLC22A5) | D | G | 115 | rs386134192 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6008 | O76082 (SLC22A5) | D | Y | 122 | rs201082652 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6009 | O76082 (SLC22A5) | V | G | 123 | rs748605096 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6010 | O76082 (SLC22A5) | P | L | 143 | rs1178584184 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6011 | O76082 (SLC22A5) | L | F | 144 | rs10040427 | Benign |
6012 | O76082 (SLC22A5) | R | P | 169 | - | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6013 | O76082 (SLC22A5) | R | Q | 169 | rs121908889 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6014 | O76082 (SLC22A5) | R | W | 169 | rs121908890 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6015 | O76082 (SLC22A5) | V | M | 175 | rs781721860 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6016 | O76082 (SLC22A5) | M | V | 177 | rs145068530 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6017 | O76082 (SLC22A5) | L | P | 186 | rs386134197 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6018 | O76082 (SLC22A5) | M | R | 205 | - | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6019 | O76082 (SLC22A5) | N | S | 210 | rs386134198 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6020 | O76082 (SLC22A5) | Y | C | 211 | rs121908888 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6021 | O76082 (SLC22A5) | S | L | 225 | rs386134205 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6022 | O76082 (SLC22A5) | R | H | 227 | rs185551386 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6023 | O76082 (SLC22A5) | F | L | 230 | rs756650860 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6024 | O76082 (SLC22A5) | S | F | 231 | rs386134206 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6025 | O76082 (SLC22A5) | T | M | 232 | rs114269482 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6026 | O76082 (SLC22A5) | G | R | 234 | rs1457258524 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6027 | O76082 (SLC22A5) | A | T | 240 | - | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6028 | O76082 (SLC22A5) | G | V | 242 | rs72552728 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6029 | O76082 (SLC22A5) | P | R | 247 | - | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6030 | O76082 (SLC22A5) | R | W | 257 | rs386134203 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6031 | O76082 (SLC22A5) | T | R | 264 | rs201262157 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6032 | O76082 (SLC22A5) | S | F | 280 | rs386134208 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6033 | O76082 (SLC22A5) | R | Q | 282 | rs386134210 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6034 | O76082 (SLC22A5) | W | C | 283 | rs386134211 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6035 | O76082 (SLC22A5) | W | R | 283 | rs72552729 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6036 | O76082 (SLC22A5) | A | D | 301 | rs72552730 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6037 | O76082 (SLC22A5) | W | R | 351 | rs68018207 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6038 | O76082 (SLC22A5) | S | L | 355 | rs1385634398 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6039 | O76082 (SLC22A5) | Y | N | 358 | rs61731073 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6040 | O76082 (SLC22A5) | S | L | 362 | rs886042092 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6041 | O76082 (SLC22A5) | L | P | 363 | rs386134214 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6042 | O76082 (SLC22A5) | P | L | 398 | rs144547521 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6043 | O76082 (SLC22A5) | R | Q | 399 | rs121908891 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6044 | O76082 (SLC22A5) | R | W | 399 | rs267607054 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6045 | O76082 (SLC22A5) | V | G | 439 | - | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6046 | O76082 (SLC22A5) | T | M | 440 | rs72552732 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6047 | O76082 (SLC22A5) | A | I | 442 | rs267607053 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6048 | O76082 (SLC22A5) | F | V | 443 | - | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6049 | O76082 (SLC22A5) | V | F | 446 | rs72552733 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6050 | O76082 (SLC22A5) | Y | C | 447 | rs386134218 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6051 | O76082 (SLC22A5) | V | L | 448 | rs386134219 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6052 | O76082 (SLC22A5) | E | K | 452 | rs72552734 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6053 | O76082 (SLC22A5) | P | R | 455 | rs1408166345 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6054 | O76082 (SLC22A5) | G | V | 462 | - | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6055 | O76082 (SLC22A5) | S | C | 467 | rs60376624 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6056 | O76082 (SLC22A5) | T | R | 468 | rs386134221 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6057 | O76082 (SLC22A5) | S | F | 470 | rs386134222 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6058 | O76082 (SLC22A5) | R | C | 471 | rs749282641 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6059 | O76082 (SLC22A5) | R | H | 471 | rs386134223 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6060 | O76082 (SLC22A5) | R | P | 471 | - | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6061 | O76082 (SLC22A5) | L | R | 476 | - | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6062 | O76082 (SLC22A5) | P | L | 478 | rs72552735 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6063 | O76082 (SLC22A5) | V | F | 481 | rs11568513 | Benign |
6064 | O76082 (SLC22A5) | V | I | 481 | rs11568513 | Benign |
6065 | O76082 (SLC22A5) | R | C | 488 | rs377216516 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6066 | O76082 (SLC22A5) | L | S | 507 | rs1157198543 | Disease: Systemic primary carnitine deficiency (CDSP) [MIM:212140] |
6067 | O76082 (SLC22A5) | F | L | 508 | rs11568521 | Benign |
6068 | O76082 (SLC22A5) | M | V | 530 | rs11568524 | Benign |
6069 | O76082 (SLC22A5) | P | S | 549 | rs11568525 | Benign |
6070 | O76090 (BEST1) | I | T | 3 | - | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6071 | O76090 (BEST1) | T | P | 6 | rs28940275 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6072 | O76090 (BEST1) | T | R | 6 | rs281865204 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6073 | O76090 (BEST1) | V | A | 9 | rs281865205 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6074 | O76090 (BEST1) | V | M | 9 | rs28940276 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6075 | O76090 (BEST1) | A | T | 10 | rs281865206 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6076 | O76090 (BEST1) | A | V | 10 | rs281865207 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6077 | O76090 (BEST1) | N | I | 11 | rs281865208 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6078 | O76090 (BEST1) | R | H | 13 | rs281865209 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6079 | O76090 (BEST1) | S | F | 16 | rs281865210 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6080 | O76090 (BEST1) | F | C | 17 | rs281865211 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6081 | O76090 (BEST1) | L | V | 21 | rs281865212 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6082 | O76090 (BEST1) | W | C | 24 | rs281865213 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6083 | O76090 (BEST1) | R | Q | 25 | rs281865215 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6084 | O76090 (BEST1) | R | W | 25 | rs281865214 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6085 | O76090 (BEST1) | G | R | 26 | - | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6086 | O76090 (BEST1) | S | R | 27 | rs281865216 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6087 | O76090 (BEST1) | Y | H | 29 | rs281865217 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6088 | O76090 (BEST1) | K | R | 30 | rs281865218 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6089 | O76090 (BEST1) | L | P | 41 | rs121918288 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6090 | O76090 (BEST1) | R | H | 47 | rs28940278 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6091 | O76090 (BEST1) | Q | L | 58 | rs281865529 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6092 | O76090 (BEST1) | L | V | 67 | - | Benign |
6093 | O76090 (BEST1) | I | N | 73 | - | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6094 | O76090 (BEST1) | F | L | 80 | rs281865221 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6095 | O76090 (BEST1) | L | V | 82 | rs281865530 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6096 | O76090 (BEST1) | Y | H | 85 | rs28940274 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6097 | O76090 (BEST1) | V | M | 86 | rs121918289 | Disease: Vitreoretino choroidopath y, autosomal dominant (ADVIRC) [MIM:193220] |
6098 | O76090 (BEST1) | V | A | 89 | - | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6099 | O76090 (BEST1) | T | I | 91 | rs281865223 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6100 | O76090 (BEST1) | R | C | 92 | rs281865224 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6101 | O76090 (BEST1) | R | H | 92 | rs281865225 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6102 | O76090 (BEST1) | R | S | 92 | rs281865224 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6103 | O76090 (BEST1) | W | C | 93 | rs28940273 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6104 | O76090 (BEST1) | Q | H | 96 | rs281865226 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6105 | O76090 (BEST1) | N | K | 99 | rs281865227 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6106 | O76090 (BEST1) | L | R | 100 | rs281865228 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6107 | O76090 (BEST1) | P | T | 101 | rs281865229 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6108 | O76090 (BEST1) | W | R | 102 | rs281865230 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6109 | O76090 (BEST1) | D | E | 104 | rs281865232 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6110 | O76090 (BEST1) | D | H | 104 | rs281865231 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6111 | O76090 (BEST1) | R | C | 105 | rs281865273 | Benign |
6112 | O76090 (BEST1) | F | L | 113 | rs1445469923 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6113 | O76090 (BEST1) | E | Q | 119 | rs1805142 | Benign |
6114 | O76090 (BEST1) | N | K | 133 | rs281865233 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6115 | O76090 (BEST1) | G | S | 135 | rs281865234 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6116 | O76090 (BEST1) | L | R | 140 | rs281865235 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6117 | O76090 (BEST1) | L | V | 140 | rs267606678 | Disease: Retinitis pigmentosa 50 (RP50) [MIM:613194] |
6118 | O76090 (BEST1) | R | H | 141 | rs121918284 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6119 | O76090 (BEST1) | A | K | 146 | rs1800995 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6120 | O76090 (BEST1) | P | A | 152 | rs1417478879 | Disease: Bestrophinop athy, autosomal recessive (ARB) [MIM:611809] |
6121 | O76090 (BEST1) | A | V | 195 | rs200277476 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6122 | O76090 (BEST1) | I | T | 201 | rs199529046 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6123 | O76090 (BEST1) | R | W | 202 | rs765998048 | Disease: Bestrophinop athy, autosomal recessive (ARB) [MIM:611809] |
6124 | O76090 (BEST1) | I | T | 205 | rs267606680 | Disease: Retinitis pigmentosa 50 (RP50) [MIM:613194] |
6125 | O76090 (BEST1) | L | I | 207 | rs74653691 | Benign |
6126 | O76090 (BEST1) | S | N | 209 | rs281865237 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6127 | O76090 (BEST1) | T | I | 216 | rs281865275 | Benign |
6128 | O76090 (BEST1) | R | C | 218 | rs281865238 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6129 | O76090 (BEST1) | R | H | 218 | rs281865239 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6130 | O76090 (BEST1) | R | Q | 218 | - | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6131 | O76090 (BEST1) | R | S | 218 | rs281865238 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6132 | O76090 (BEST1) | C | W | 221 | rs281865240 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6133 | O76090 (BEST1) | G | V | 222 | rs281865241 | Benign |
6134 | O76090 (BEST1) | L | M | 224 | rs281865242 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6135 | O76090 (BEST1) | L | P | 224 | rs281865243 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6136 | O76090 (BEST1) | Y | C | 227 | rs267606677 | Disease: Retinitis pigmentosa 50 (RP50) [MIM:613194] |
6137 | O76090 (BEST1) | Y | N | 227 | rs28941469 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6138 | O76090 (BEST1) | D | N | 228 | rs267606676 | Disease: Retinitis pigmentosa 50 (RP50) [MIM:613194] |
6139 | O76090 (BEST1) | S | R | 231 | rs281865244 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6140 | O76090 (BEST1) | V | L | 235 | rs281865245 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6141 | O76090 (BEST1) | V | M | 235 | rs281865245 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6142 | O76090 (BEST1) | Y | C | 236 | rs121918291 | Disease: Vitreoretino choroidopath y, autosomal dominant (ADVIRC) [MIM:193220] |
6143 | O76090 (BEST1) | T | R | 237 | rs281865246 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6144 | O76090 (BEST1) | V | M | 239 | rs121918290 | Disease: Vitreoretino choroidopath y, autosomal dominant (ADVIRC) [MIM:193220] |
6145 | O76090 (BEST1) | T | N | 241 | rs281865247 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6146 | O76090 (BEST1) | V | M | 242 | - | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6147 | O76090 (BEST1) | A | T | 243 | rs137853905 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6148 | O76090 (BEST1) | A | V | 243 | rs28940570 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6149 | O76090 (BEST1) | V | I | 275 | rs281865276 | Benign |
6150 | O76090 (BEST1) | F | L | 276 | rs281865248 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6151 | O76090 (BEST1) | Q | K | 293 | rs281865250 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6152 | O76090 (BEST1) | L | V | 294 | rs281865251 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6153 | O76090 (BEST1) | I | T | 295 | rs281865253 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6154 | O76090 (BEST1) | N | H | 296 | rs281865254 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6155 | O76090 (BEST1) | N | S | 296 | rs281865255 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6156 | O76090 (BEST1) | P | A | 297 | rs1805143 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6157 | O76090 (BEST1) | P | S | 297 | rs1805143 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6158 | O76090 (BEST1) | F | S | 298 | rs281865257 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6159 | O76090 (BEST1) | G | A | 299 | - | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6160 | O76090 (BEST1) | G | E | 299 | rs28941468 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6161 | O76090 (BEST1) | E | D | 300 | rs1805144 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6162 | O76090 (BEST1) | E | K | 300 | rs281865258 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6163 | O76090 (BEST1) | D | E | 301 | rs281865261 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6164 | O76090 (BEST1) | D | N | 301 | rs281865259 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6165 | O76090 (BEST1) | D | G | 302 | rs281865263 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6166 | O76090 (BEST1) | D | H | 302 | rs281865262 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6167 | O76090 (BEST1) | D | V | 302 | rs281865263 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6168 | O76090 (BEST1) | D | E | 303 | rs281865264 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6169 | O76090 (BEST1) | F | S | 305 | rs281865265 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6170 | O76090 (BEST1) | E | D | 306 | rs281865267 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6171 | O76090 (BEST1) | E | G | 306 | rs281865266 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6172 | O76090 (BEST1) | T | A | 307 | rs281865268 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6173 | O76090 (BEST1) | T | I | 307 | rs281865269 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6174 | O76090 (BEST1) | N | S | 308 | rs281865270 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6175 | O76090 (BEST1) | I | T | 310 | rs281865271 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6176 | O76090 (BEST1) | V | G | 311 | - | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6177 | O76090 (BEST1) | D | N | 312 | rs281865277 | Disease: Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] |
6178 | O76090 (BEST1) | V | M | 317 | rs121918287 | Disease: Bestrophinop athy, autosomal recessive (ARB) [MIM:611809] |
6179 | O76090 (BEST1) | M | T | 325 | rs368387447 | Disease: Bestrophinop athy, autosomal recessive (ARB) [MIM:611809] |
6180 | O76090 (BEST1) | A | V | 357 | rs17854138 | Benign |
6181 | O76090 (BEST1) | E | A | 525 | rs200582915 | Benign |
6182 | O76090 (BEST1) | E | K | 557 | rs147192139 | Benign |
6183 | O76090 (BEST1) | T | A | 561 | rs281865283 | Benign |
6184 | O76090 (BEST1) | E | V | 578 | rs1800010 | Benign |
6185 | O76094 (SRP72) | R | H | 207 | rs387907189 | Disease: Bone marrow failure syndrome 1 (BMFS1) [MIM:614675] |
6186 | O76095 (JTB) | L | F | 16 | rs34686244 | Benign |
6187 | O76099 (OR7C1) | S | G | 99 | rs17230134 | Benign |
6188 | O76099 (OR7C1) | V | I | 126 | rs10415562 | Benign |
6189 | O76099 (OR7C1) | E | K | 171 | rs10415312 | Benign |
6190 | O76099 (OR7C1) | S | P | 210 | rs16979912 | Benign |
6191 | O76100 (OR7A10) | M | T | 151 | rs12972670 | Benign |
6192 | O76100 (OR7A10) | Q | E | 183 | rs9305052 | Benign |
6193 | O76100 (OR7A10) | I | L | 225 | rs11880955 | Benign |
6194 | O76100 (OR7A10) | A | T | 273 | rs10221530 | Benign |
6195 | O77932 (DXO) | S | T | 28 | rs1056694 | Benign |
6196 | O77932 (DXO) | D | E | 63 | rs2746396 | Benign |
6197 | O77932 (DXO) | H | Q | 261 | rs17207867 | Benign |
6198 | O77932 (DXO) | A | V | 332 | rs12205138 | Benign |
6199 | O94759 (TRPM2) | N | K | 52 | rs45625933 | Benign |
6200 | O94759 (TRPM2) | V | I | 166 | rs45544142 | Benign |
6201 | O94759 (TRPM2) | V | M | 385 | rs45485992 | Benign |
6202 | O94759 (TRPM2) | D | E | 543 | rs1556314 | Benign |
6203 | O94759 (TRPM2) | D | E | 780 | rs9974927 | Benign |
6204 | O94759 (TRPM2) | Q | R | 1189 | rs9978351 | Benign |
6205 | O94759 (TRPM2) | R | W | 1199 | rs45611537 | Benign |
6206 | O94759 (TRPM2) | S | G | 1201 | rs45519835 | Benign |
6207 | O94759 (TRPM2) | N | S | 1249 | rs45513700 | Benign |
6208 | O94759 (TRPM2) | T | M | 1347 | rs45589233 | Benign |
6209 | O94759 (TRPM2) | E | K | 1359 | rs45570639 | Benign |
6210 | O94759 (TRPM2) | I | M | 1368 | rs45613636 | Benign |
6211 | O94759 (TRPM2) | A | S | 1438 | rs45578242 | Benign |
6212 | O94761 (RECQL4) | Q | R | 54 | rs35198096 | Benign |
6213 | O94761 (RECQL4) | E | G | 71 | rs34642881 | Benign |
6214 | O94761 (RECQL4) | S | P | 92 | rs2721190 | Benign |
6215 | O94761 (RECQL4) | G | S | 189 | rs34371341 | Benign |
6216 | O94761 (RECQL4) | E | D | 267 | rs4244612 | Benign |
6217 | O94761 (RECQL4) | A | T | 273 | rs34103564 | Benign |
6218 | O94761 (RECQL4) | E | K | 301 | rs34633809 | Benign |
6219 | O94761 (RECQL4) | R | Q | 355 | rs374743591 | Benign |
6220 | O94761 (RECQL4) | P | S | 441 | rs557142414 | Benign |
6221 | O94761 (RECQL4) | R | C | 522 | rs35407712 | Benign |
6222 | O94761 (RECQL4) | R | H | 522 | rs35842750 | Benign |
6223 | O94761 (RECQL4) | S | T | 523 | rs754735053 | Benign |
6224 | O94761 (RECQL4) | P | L | 591 | rs2721191 | Benign |
6225 | O94761 (RECQL4) | P | L | 793 | rs1034558903 | Benign |
6226 | O94761 (RECQL4) | P | S | 793 | rs35098923 | Benign |
6227 | O94761 (RECQL4) | V | M | 799 | rs34293591 | Benign |
6228 | O94761 (RECQL4) | P | T | 964 | rs33972310 | Benign |
6229 | O94761 (RECQL4) | E | K | 976 | rs35070885 | Benign |
6230 | O94761 (RECQL4) | R | W | 1004 | rs36023964 | Benign |
6231 | O94761 (RECQL4) | R | Q | 1005 | rs4251691 | Benign |
6232 | O94761 (RECQL4) | R | Q | 1021 | rs34666647 | Benign |
6233 | O94761 (RECQL4) | R | W | 1021 | rs137853232 | Disease: Baller- Gerold syndrome (BGS) [MIM:218600] |
6234 | O94761 (RECQL4) | L | P | 1043 | rs4925828 | Benign |
6235 | O94761 (RECQL4) | A | T | 1045 | rs35348691 | Benign |
6236 | O94761 (RECQL4) | G | D | 1105 | rs36078464 | Benign |
6237 | O94761 (RECQL4) | G | S | 1105 | rs34915097 | Benign |
6238 | O94761 (RECQL4) | R | H | 1106 | rs34236392 | Benign |
6239 | O94761 (RECQL4) | G | R | 1113 | rs35101495 | Benign |
6240 | O94761 (RECQL4) | S | F | 1148 | rs35346077 | Benign |
6241 | O94762 (RECQL5) | D | G | 480 | rs820196 | Benign |
6242 | O94762 (RECQL5) | S | N | 628 | rs35566780 | Benign |
6243 | O94763 (URI1) | L | P | 22 | rs189187 | Benign |
6244 | O94766 (B3GAT3) | P | L | 140 | rs879255269 | Disease: Multiple joint dislocations , short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600] |
6245 | O94766 (B3GAT3) | R | Q | 277 | rs387906937 | Disease: Multiple joint dislocations , short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600] |
6246 | O94768 (STK17B) | S | F | 320 | rs34740616 | Benign |
6247 | O94769 (ECM2) | Q | P | 56 | rs10120210 | Benign |
6248 | O94769 (ECM2) | T | S | 109 | rs35496743 | Benign |
6249 | O94769 (ECM2) | R | Q | 204 | rs34758505 | Benign |
6250 | O94777 (DPM2) | Y | C | 23 | rs397514503 | Disease: Congenital disorder of glycosylatio n 1U (CDG1U) [MIM:615042] |
6251 | O94777 (DPM2) | T | S | 76 | rs7997 | Benign |
6252 | O94778 (AQP8) | A | P | 260 | rs2287798 | Benign |
6253 | O94779 (CNTN5) | S | A | 23 | rs10790978 | Benign |
6254 | O94779 (CNTN5) | L | R | 70 | rs7125822 | Benign |
6255 | O94779 (CNTN5) | N | S | 81 | rs10893933 | Benign |
6256 | O94779 (CNTN5) | I | V | 530 | rs11223168 | Benign |
6257 | O94779 (CNTN5) | Y | F | 1065 | rs1944169 | Benign |
6258 | O94779 (CNTN5) | S | T | 1079 | rs1216183 | Benign |
6259 | O94779 (CNTN5) | M | V | 1094 | rs35208161 | Benign |
6260 | O94788 (ALDH1A2) | E | G | 50 | rs34266719 | Benign |
6261 | O94788 (ALDH1A2) | A | V | 110 | rs35365164 | Benign |
6262 | O94788 (ALDH1A2) | V | I | 348 | rs4646626 | Benign |
6263 | O94788 (ALDH1A2) | E | K | 436 | rs34744827 | Benign |
6264 | O94804 (STK10) | R | C | 268 | rs35826078 | Benign |
6265 | O94804 (STK10) | K | E | 277 | rs757545210 | Disease: Testicular germ cell tumor (TGCT) [MIM:273300] |
6266 | O94804 (STK10) | R | W | 322 | rs56214442 | Benign |
6267 | O94804 (STK10) | T | I | 336 | rs55972616 | Benign |
6268 | O94804 (STK10) | N | S | 467 | rs56063773 | Benign |
6269 | O94804 (STK10) | P | L | 480 | rs34505340 | Benign |
6270 | O94804 (STK10) | P | L | 520 | rs17074311 | Benign |
6271 | O94804 (STK10) | M | T | 710 | rs34936670 | Benign |
6272 | O94804 (STK10) | S | L | 853 | rs56066852 | Benign |
6273 | O94804 (STK10) | S | T | 905 | rs55791916 | Benign |
6274 | O94804 (STK10) | S | N | 942 | rs1128204 | Benign |
6275 | O94804 (STK10) | C | Y | 947 | rs56355550 | Benign |
6276 | O94805 (ACTL6B) | L | P | 206 | - | Disease: Epileptic encephalopat hy, early infantile, 76 (EIEE76) [MIM:618468] |
6277 | O94805 (ACTL6B) | G | R | 343 | rs1131692228 | Disease: Intellectual developmenta l disorder with severe speech and ambulation defects (IDDSSAD) [MIM:618470] |
6278 | O94805 (ACTL6B) | G | S | 349 | rs955171017 | Disease: Epileptic encephalopat hy, early infantile, 76 (EIEE76) [MIM:618468] |
6279 | O94806 (PRKD3) | N | D | 42 | rs11896614 | Benign |
6280 | O94806 (PRKD3) | A | T | 128 | rs17852819 | Benign |
6281 | O94806 (PRKD3) | P | S | 225 | rs34280934 | Benign |
6282 | O94806 (PRKD3) | L | I | 445 | rs55912911 | Benign |
6283 | O94806 (PRKD3) | Q | R | 546 | rs17856887 | Benign |
6284 | O94808 (GFPT2) | I | V | 471 | rs2303007 | Benign |
6285 | O94810 (RGS11) | V | M | 351 | rs9806942 | Benign |
6286 | O94810 (RGS11) | M | T | 427 | rs739999 | Benign |
6287 | O94812 (BAIAP3) | D | A | 582 | rs1132356 | Benign |
6288 | O94812 (BAIAP3) | S | I | 879 | rs36074509 | Benign |
6289 | O94813 (SLIT2) | S | P | 636 | - | Benign |
6290 | O94813 (SLIT2) | S | F | 1277 | rs771375896 | Benign |
6291 | O94822 (LTN1) | L | S | 403 | rs2254796 | Benign |
6292 | O94822 (LTN1) | A | V | 500 | rs16983580 | Benign |
6293 | O94822 (LTN1) | G | C | 565 | rs34191159 | Benign |
6294 | O94822 (LTN1) | V | I | 761 | rs34635840 | Benign |
6295 | O94823 (ATP10B) | C | R | 217 | rs958912 | Benign |
6296 | O94827 (PLEKHG5) | F | S | 703 | rs63750315 | Disease: Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4) [MIM:611067] |
6297 | O94827 (PLEKHG5) | T | M | 719 | rs397515456 | Disease: Charcot- Marie-Tooth disease, recessive, intermediate type, C (CMTRIC) [MIM:615376] |
6298 | O94827 (PLEKHG5) | G | R | 876 | rs202191898 | Disease: Charcot- Marie-Tooth disease, recessive, intermediate type, C (CMTRIC) [MIM:615376] |
6299 | O94830 (DDHD2) | T | M | 186 | rs2306899 | Benign |
6300 | O94830 (DDHD2) | D | H | 660 | rs375168720 | Disease: Spastic paraplegia 54, autosomal recessive (SPG54) [MIM:615033] |
6301 | O94832 (MYO1D) | P | S | 765 | rs7209106 | Benign |
6302 | O94832 (MYO1D) | R | H | 771 | rs7215958 | Benign |
6303 | O94850 (DDN) | E | G | 661 | rs10783299 | Benign |
6304 | O94851 (MICAL2) | F | L | 145 | rs2706656 | Benign |
6305 | O94851 (MICAL2) | I | V | 220 | rs2306727 | Benign |
6306 | O94851 (MICAL2) | D | E | 687 | rs3794084 | Benign |
6307 | O94851 (MICAL2) | R | Q | 1089 | rs2270515 | Benign |
6308 | O94851 (MICAL2) | L | P | 1106 | rs1027335 | Benign |
6309 | O94851 (MICAL2) | P | S | 1110 | rs35518829 | Benign |
6310 | O94854 (KIAA0754) | I | V | 824 | rs1746842 | Benign |
6311 | O94854 (KIAA0754) | T | A | 969 | rs783822 | Benign |
6312 | O94854 (KIAA0754) | E | K | 1058 | rs587523 | Benign |
6313 | O94855 (SEC24D) | M | T | 42 | rs10029206 | Benign |
6314 | O94855 (SEC24D) | P | L | 193 | rs6844109 | Benign |
6315 | O94855 (SEC24D) | F | I | 496 | rs11723368 | Benign |
6316 | O94855 (SEC24D) | Q | P | 978 | rs786204846 | Disease: Cole- Carpenter syndrome 2 (CLCRP2) [MIM:616294] |
6317 | O94855 (SEC24D) | S | F | 1015 | rs760670617 | Disease: Cole- Carpenter syndrome 2 (CLCRP2) [MIM:616294] |
6318 | O94856 (NFASC) | T | M | 159 | rs3795564 | Benign |
6319 | O94874 (UFL1) | V | F | 137 | rs28372909 | Benign |
6320 | O94875 (SORBS2) | A | V | 1048 | rs725185 | Benign |
6321 | O94876 (TMCC1) | S | G | 165 | rs784689 | Benign |
6322 | O94880 (PHF14) | K | R | 115 | rs218966 | Benign |
6323 | O94885 (SASH1) | P | Q | 298 | rs35078400 | Benign |
6324 | O94885 (SASH1) | S | A | 507 | - | Disease: Dyschromatos is universalis hereditaria 1 (DUH1) [MIM:127500] |
6325 | O94885 (SASH1) | E | K | 509 | - | Disease: Dyschromatos is universalis hereditaria 1 (DUH1) [MIM:127500] |
6326 | O94885 (SASH1) | L | P | 515 | - | Disease: Dyschromatos is universalis hereditaria 1 (DUH1) [MIM:127500] |
6327 | O94885 (SASH1) | S | N | 519 | - | Disease: Dyschromatos is universalis hereditaria 1 (DUH1) [MIM:127500] |
6328 | O94885 (SASH1) | Y | D | 551 | - | Disease: Dyschromatos is universalis hereditaria 1 (DUH1) [MIM:127500] |
6329 | O94885 (SASH1) | Y | H | 551 | - | Disease: Dyschromatos is universalis hereditaria 1 (DUH1) [MIM:127500] |
6330 | O94885 (SASH1) | E | K | 617 | rs587781245 | Disease: Cancer, alopecia, pigment dyscrasia, onychodystro phy, and keratoderma (CAPOK) [MIM:618373] |
6331 | O94885 (SASH1) | Q | R | 884 | rs208696 | Benign |
6332 | O94886 (TMEM63A) | F | I | 121 | rs57306966 | Benign |
6333 | O94886 (TMEM63A) | G | E | 168 | - | Disease: Leukodystrop hy, hypomyelinat ing, 19, transient infantile (HLD19) [MIM:618688] |
6334 | O94886 (TMEM63A) | I | N | 462 | - | Disease: Leukodystrop hy, hypomyelinat ing, 19, transient infantile (HLD19) [MIM:618688] |
6335 | O94886 (TMEM63A) | G | S | 567 | - | Disease: Leukodystrop hy, hypomyelinat ing, 19, transient infantile (HLD19) [MIM:618688] |
6336 | O94886 (TMEM63A) | V | M | 622 | rs1009668 | Benign |
6337 | O94887 (FARP2) | K | N | 185 | rs16843643 | Benign |
6338 | O94887 (FARP2) | T | I | 260 | rs757978 | Benign |
6339 | O94887 (FARP2) | V | I | 643 | rs41342147 | Benign |
6340 | O94901 (SUN1) | H | Y | 118 | rs6461378 | Benign |
6341 | O94901 (SUN1) | A | V | 203 | rs144929525 | Benign |
6342 | O94901 (SUN1) | A | V | 614 | - | Benign |
6343 | O94903 (PLPBP) | V | M | 24 | rs35423325 | Benign |
6344 | O94903 (PLPBP) | P | L | 87 | rs755946598 | Disease: Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) [MIM:617290] |
6345 | O94903 (PLPBP) | L | P | 175 | rs752753379 | Disease: Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) [MIM:617290] |
6346 | O94903 (PLPBP) | R | Q | 241 | rs760609867 | Disease: Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) [MIM:617290] |
6347 | O94905 (ERLIN2) | V | A | 71 | rs2032066 | Benign |
6348 | O94906 (PRPF6) | N | S | 477 | rs1433048453 | Benign |
6349 | O94906 (PRPF6) | R | W | 729 | rs387907100 | Disease: Retinitis pigmentosa 60 (RP60) [MIM:613983] |
6350 | O94910 (ADGRL1) | E | Q | 595 | rs34759320 | Benign |
6351 | O94911 (ABCA8) | T | A | 256 | rs16973446 | Benign |
6352 | O94911 (ABCA8) | G | S | 331 | rs4147979 | Benign |
6353 | O94911 (ABCA8) | A | V | 416 | rs35621847 | Benign |
6354 | O94911 (ABCA8) | Y | F | 489 | rs12150510 | Benign |
6355 | O94911 (ABCA8) | L | R | 619 | rs35844316 | Benign |
6356 | O94911 (ABCA8) | C | G | 680 | rs16973424 | Benign |
6357 | O94911 (ABCA8) | G | S | 1430 | rs35403175 | Benign |
6358 | O94913 (PCF11) | Q | H | 651 | rs7935175 | Benign |
6359 | O94913 (PCF11) | H | Y | 1119 | rs17513642 | Benign |
6360 | O94913 (PCF11) | E | K | 1402 | rs11233510 | Benign |
6361 | O94915 (FRYL) | P | S | 890 | rs376571442 | Benign |
6362 | O94915 (FRYL) | I | V | 1878 | rs7670111 | Benign |
6363 | O94919 (ENDOD1) | V | M | 350 | rs3740862 | Benign |
6364 | O94919 (ENDOD1) | G | V | 446 | rs3740861 | Benign |
6365 | O94921 (CDK14) | S | R | 463 | rs35643773 | Benign |
6366 | O94923 (GLCE) | M | V | 65 | rs12440300 | Benign |
6367 | O94923 (GLCE) | V | I | 597 | rs3865014 | Benign |
6368 | O94925 (GLS) | A | P | 254 | rs16833035 | Benign |
6369 | O94925 (GLS) | R | K | 272 | - | Disease: Epileptic encephalopat hy, early infantile, 71 (EIEE71) [MIM:618328] |
6370 | O94925 (GLS) | P | L | 313 | - | Disease: Global developmenta l delay, progressive ataxia, and elevated glutamine (GDPAG) [MIM:618412] |
6371 | O94925 (GLS) | S | C | 482 | - | Disease: Infantile cataract, skin abnormalitie s, glutamate excess, and impaired intellectual development (CASGID) [MIM:618339] |
6372 | O94927 (HAUS5) | P | L | 213 | rs2301596 | Benign |
6373 | O94927 (HAUS5) | A | D | 277 | rs2285412 | Benign |
6374 | O94929 (ABLIM3) | G | D | 125 | rs35907283 | Benign |
6375 | O94933 (SLITRK3) | I | V | 605 | rs3828419 | Benign |
6376 | O94941 (UBOX5) | T | M | 96 | rs999409 | Benign |
6377 | O94941 (UBOX5) | L | P | 479 | rs34205880 | Benign |
6378 | O94952 (FBXO21) | N | T | 180 | rs11556202 | Benign |
6379 | O94953 (KDM4B) | N | T | 29 | rs11667206 | Benign |
6380 | O94953 (KDM4B) | K | E | 710 | rs2620836 | Benign |
6381 | O94955 (RHOBTB3) | R | Q | 20 | rs17855649 | Benign |
6382 | O94955 (RHOBTB3) | P | R | 21 | rs2302980 | Benign |
6383 | O94955 (RHOBTB3) | N | D | 262 | rs34899 | Benign |
6384 | O94956 (SLCO2B1) | V | M | 201 | rs35199625 | Benign |
6385 | O94956 (SLCO2B1) | R | Q | 312 | rs12422149 | Benign |
6386 | O94956 (SLCO2B1) | I | T | 392 | rs1621378 | Benign |
6387 | O94956 (SLCO2B1) | S | F | 486 | rs2306168 | Benign |
6388 | O94964 (SOGA1) | Q | H | 993 | rs34459518 | Benign |
6389 | O94966 (USP19) | D | H | 36 | rs11552724 | Benign |
6390 | O94972 (TRIM37) | L | P | 76 | rs386834004 | Disease: Mulibrey nanism (MUL) [MIM:253250] |
6391 | O94972 (TRIM37) | T | A | 108 | rs17853504 | Benign |
6392 | O94972 (TRIM37) | C | S | 109 | rs121908391 | Disease: Mulibrey nanism (MUL) [MIM:253250] |
6393 | O94972 (TRIM37) | G | V | 322 | rs386834009 | Disease: Mulibrey nanism (MUL) [MIM:253250] |
6394 | O94972 (TRIM37) | Q | R | 432 | rs1458302547 | Benign |
6395 | O94972 (TRIM37) | V | I | 838 | rs7222388 | Benign |
6396 | O94979 (SEC31A) | I | V | 263 | rs34554214 | Benign |
6397 | O94979 (SEC31A) | N | K | 456 | rs3797036 | Benign |
6398 | O94979 (SEC31A) | P | L | 841 | rs35579207 | Benign |
6399 | O94979 (SEC31A) | P | T | 1055 | rs35739017 | Benign |
6400 | O94983 (CAMTA2) | A | P | 267 | rs238234 | Benign |
6401 | O94983 (CAMTA2) | S | P | 903 | rs16942615 | Benign |
6402 | O94985 (CLSTN1) | A | T | 332 | rs7550295 | Benign |
6403 | O94985 (CLSTN1) | V | A | 474 | rs17853245 | Benign |
6404 | O94985 (CLSTN1) | S | C | 524 | rs17853244 | Benign |
6405 | O94985 (CLSTN1) | P | R | 583 | rs17853243 | Benign |
6406 | O94985 (CLSTN1) | P | H | 857 | rs17855572 | Benign |
6407 | O94985 (CLSTN1) | F | S | 870 | rs17855573 | Benign |
6408 | O94986 (CEP152) | S | L | 54 | rs2289181 | Benign |
6409 | O94986 (CEP152) | Q | P | 265 | rs267606717 | Disease: Microcephaly 9, primary, autosomal recessive (MCPH9) [MIM:614852] |
6410 | O94986 (CEP152) | K | R | 667 | rs200879436 | Disease: Seckel syndrome 5 (SCKL5) [MIM:613823] |
6411 | O94986 (CEP152) | S | I | 793 | rs2289178 | Benign |
6412 | O94986 (CEP152) | L | V | 914 | rs16961560 | Benign |
6413 | O94986 (CEP152) | V | A | 1106 | rs16961557 | Benign |
6414 | O94988 (FAM13A) | V | I | 769 | rs7657817 | Benign |
6415 | O94989 (ARHGEF15) | P | S | 73 | rs9890841 | Benign |
6416 | O94989 (ARHGEF15) | G | V | 155 | rs17857129 | Benign |
6417 | O94989 (ARHGEF15) | L | P | 277 | rs871841 | Benign |
6418 | O94989 (ARHGEF15) | S | P | 831 | rs3744647 | Benign |
6419 | O94993 (SOX30) | Q | K | 429 | rs12188040 | Benign |
6420 | O94993 (SOX30) | V | M | 749 | rs889057 | Benign |
6421 | O95006 (OR2F2) | A | V | 98 | rs2240359 | Benign |
6422 | O95006 (OR2F2) | T | A | 170 | rs13229174 | Benign |
6423 | O95006 (OR2F2) | Y | H | 278 | rs13235235 | Benign |
6424 | O95007 (OR6B1) | R | C | 143 | rs7787378 | Benign |
6425 | O95025 (SEMA3D) | K | Q | 701 | rs7800072 | Benign |
6426 | O95045 (UPP2) | R | S | 10 | rs6710480 | Benign |
6427 | O95045 (UPP2) | M | L | 78 | rs7561584 | Benign |
6428 | O95049 (TJP3) | M | T | 898 | rs1046268 | Benign |
6429 | O95050 (INMT) | D | N | 28 | rs4723010 | Benign |
6430 | O95050 (INMT) | M | V | 205 | rs2302339 | Benign |
6431 | O95050 (INMT) | V | M | 214 | rs56800285 | Benign |
6432 | O95050 (INMT) | E | G | 219 | rs2302340 | Benign |
6433 | O95050 (INMT) | N | S | 246 | rs6970210 | Benign |
6434 | O95050 (INMT) | F | C | 254 | rs4720015 | Benign |
6435 | O95050 (INMT) | R | H | 258 | rs6970605 | Benign |
6436 | O95067 (CCNB2) | M | T | 100 | rs16941036 | Benign |
6437 | O95067 (CCNB2) | V | I | 135 | rs2306785 | Benign |
6438 | O95067 (CCNB2) | I | T | 395 | rs28383563 | Benign |
6439 | O95071 (UBR5) | S | R | 2150 | rs1062822 | Benign |
6440 | O95072 (REC8) | R | C | 31 | rs34075659 | Benign |
6441 | O95072 (REC8) | P | L | 294 | rs35425516 | Benign |
6442 | O95072 (REC8) | V | F | 411 | rs17855369 | Benign |
6443 | O95073 (FSBP) | R | K | 226 | rs3136422 | Benign |
6444 | O95076 (ALX3) | L | V | 168 | rs121908167 | Disease: Frontonasal dysplasia 1 (FND1) [MIM:136760] |
6445 | O95076 (ALX3) | R | W | 183 | rs121908168 | Disease: Frontonasal dysplasia 1 (FND1) [MIM:136760] |
6446 | O95076 (ALX3) | R | W | 196 | rs121908170 | Disease: Frontonasal dysplasia 1 (FND1) [MIM:136760] |
6447 | O95076 (ALX3) | N | S | 203 | rs121908166 | Disease: Frontonasal dysplasia 1 (FND1) [MIM:136760] |
6448 | O95076 (ALX3) | P | A | 234 | rs12749726 | Benign |
6449 | O95081 (AGFG2) | T | N | 365 | rs34731997 | Benign |
6450 | O95104 (SCAF4) | S | Y | 846 | rs12152067 | Benign |
6451 | O95125 (ZNF202) | V | A | 154 | rs1144507 | Benign |
6452 | O95125 (ZNF202) | G | A | 533 | rs34111365 | Benign |
6453 | O95136 (S1PR2) | R | P | 108 | rs869312749 | Disease: Deafness, autosomal recessive, 68 (DFNB68) [MIM:610419] |
6454 | O95136 (S1PR2) | Y | C | 140 | rs869312750 | Disease: Deafness, autosomal recessive, 68 (DFNB68) [MIM:610419] |
6455 | O95140 (MFN2) | V | F | 69 | rs28940296 | Disease: Charcot- Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260] |
6456 | O95140 (MFN2) | L | P | 76 | rs28940293 | Disease: Charcot- Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260] |
6457 | O95140 (MFN2) | R | Q | 94 | rs28940291 | Disease: Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A) [MIM:601152] |
6458 | O95140 (MFN2) | R | W | 94 | rs119103263 | Disease: Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A) [MIM:601152] |
6459 | O95140 (MFN2) | T | I | 206 | rs119103266 | Disease: Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A) [MIM:601152] |
6460 | O95140 (MFN2) | F | S | 216 | rs387906990 | Disease: Charcot- Marie-Tooth disease 2A2B (CMT2A2B) [MIM:617087] |
6461 | O95140 (MFN2) | L | V | 233 | - | Disease: Charcot- Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260] |
6462 | O95140 (MFN2) | P | A | 251 | rs28940295 | Disease: Charcot- Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260] |
6463 | O95140 (MFN2) | Q | R | 276 | rs119103264 | Disease: Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A) [MIM:601152] |
6464 | O95140 (MFN2) | R | H | 280 | rs28940294 | Disease: Charcot- Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260] |
6465 | O95140 (MFN2) | K | N | 357 | rs119103261 | Disease: Charcot- Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260] |
6466 | O95140 (MFN2) | H | Y | 361 | - | Disease: Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A) [MIM:601152] |
6467 | O95140 (MFN2) | R | W | 364 | rs119103265 | Disease: Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A) [MIM:601152] |
6468 | O95140 (MFN2) | V | I | 705 | rs142271930 | Benign |
6469 | O95140 (MFN2) | R | W | 707 | rs119103267 | Disease: Charcot- Marie-Tooth disease 2A2B (CMT2A2B) [MIM:617087] |
6470 | O95140 (MFN2) | W | S | 740 | rs28940292 | Disease: Charcot- Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260] |
6471 | O95140 (MFN2) | E | M | 744 | - | Disease: Charcot- Marie-Tooth disease 2A2A (CMT2A2A) [MIM:609260] |
6472 | O95150 (TNFSF15) | F | L | 110 | rs16931745 | Benign |
6473 | O95153 (TSPOAP1) | Q | R | 514 | rs2072145 | Benign |
6474 | O95153 (TSPOAP1) | A | T | 586 | rs2072147 | Benign |
6475 | O95153 (TSPOAP1) | G | R | 652 | rs373894175 | Benign |
6476 | O95153 (TSPOAP1) | Q | R | 817 | rs9913145 | Benign |
6477 | O95153 (TSPOAP1) | W | R | 851 | rs9905604 | Benign |
6478 | O95153 (TSPOAP1) | H | L | 1118 | rs3744099 | Benign |
6479 | O95153 (TSPOAP1) | A | P | 1140 | rs2680704 | Benign |
6480 | O95153 (TSPOAP1) | R | C | 1253 | rs3744101 | Benign |
6481 | O95153 (TSPOAP1) | H | R | 1728 | rs11079346 | Benign |
6482 | O95153 (TSPOAP1) | G | E | 1830 | rs2301868 | Benign |
6483 | O95154 (AKR7A3) | V | M | 138 | rs2231198 | Benign |
6484 | O95154 (AKR7A3) | N | D | 215 | rs1738023 | Benign |
6485 | O95154 (AKR7A3) | T | A | 323 | rs1738025 | Benign |
6486 | O95155 (UBE4B) | V | I | 605 | rs17034499 | Benign |
6487 | O95159 (ZFPL1) | R | Q | 218 | rs35251366 | Benign |
6488 | O95163 (ELP1) | R | C | 70 | rs3737311 | Benign |
6489 | O95163 (ELP1) | M | K | 182 | rs10521092 | Benign |
6490 | O95163 (ELP1) | E | K | 312 | rs1140064 | Benign |
6491 | O95163 (ELP1) | R | Q | 525 | rs838827 | Benign |
6492 | O95163 (ELP1) | R | P | 696 | rs137853022 | Disease: Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900] |
6493 | O95163 (ELP1) | G | E | 765 | rs2230792 | Benign |
6494 | O95163 (ELP1) | I | L | 816 | rs2230793 | Benign |
6495 | O95163 (ELP1) | I | M | 830 | rs2230794 | Benign |
6496 | O95163 (ELP1) | T | N | 848 | rs10979599 | Benign |
6497 | O95163 (ELP1) | K | I | 952 | rs2230798 | Benign |
6498 | O95163 (ELP1) | G | S | 1013 | rs2230795 | Benign |
6499 | O95163 (ELP1) | C | S | 1072 | rs3204145 | Benign |
6500 | O95163 (ELP1) | P | L | 1158 | rs1538660 | Benign |
6501 | O95169 (NDUFB8) | Y | H | 62 | rs1554843434 | Disease: Mitochondria l complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252] |
6502 | O95169 (NDUFB8) | P | Q | 76 | rs1239013578 | Disease: Mitochondria l complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252] |
6503 | O95169 (NDUFB8) | C | W | 144 | rs1554843251 | Disease: Mitochondria l complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252] |
6504 | O95170 (CDRT1) | F | L | 643 | rs8078150 | Benign |
6505 | O95171 (SCEL) | V | L | 336 | rs34164479 | Benign |
6506 | O95171 (SCEL) | R | K | 386 | rs2274016 | Benign |
6507 | O95171 (SCEL) | K | R | 480 | rs8002725 | Benign |
6508 | O95177 (GAS8-AS1) | V | I | 72 | rs3785183 | Benign |
6509 | O95180 (CACNA1H) | F | L | 161 | rs119454947 | Disease: Epilepsy, childhood absence 6 (ECA6) [MIM:611942] |
6510 | O95180 (CACNA1H) | S | L | 196 | rs780596901 | Disease: Hyperaldoste ronism, familial, 4 (HALD4) [MIM:617027] |
6511 | O95180 (CACNA1H) | E | K | 282 | rs119454948 | Disease: Epilepsy, childhood absence 6 (ECA6) [MIM:611942] |
6512 | O95180 (CACNA1H) | M | V | 313 | rs36117280 | Benign |
6513 | O95180 (CACNA1H) | C | S | 456 | - | Disease: Epilepsy, childhood absence 6 (ECA6) [MIM:611942] |
6514 | O95180 (CACNA1H) | G | S | 499 | rs560915333 | Disease: Epilepsy, childhood absence 6 (ECA6) [MIM:611942] |
6515 | O95180 (CACNA1H) | P | L | 618 | rs60734921 | Disease: Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942] |
6516 | O95180 (CACNA1H) | P | L | 640 | rs61734410 | Benign |
6517 | O95180 (CACNA1H) | P | L | 648 | rs1288484976 | Disease: Epilepsy, childhood absence 6 (ECA6) [MIM:611942] |
6518 | O95180 (CACNA1H) | V | A | 664 | rs4984636 | Benign |
6519 | O95180 (CACNA1H) | P | S | 684 | rs762185083 | Benign |
6520 | O95180 (CACNA1H) | R | Q | 744 | rs373764821 | Disease: Epilepsy, childhood absence 6 (ECA6) [MIM:611942] |
6521 | O95180 (CACNA1H) | A | V | 748 | rs770371468 | Disease: Epilepsy, childhood absence 6 (ECA6) [MIM:611942] |
6522 | O95180 (CACNA1H) | G | D | 755 | rs142306293 | Disease: Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942] |
6523 | O95180 (CACNA1H) | G | D | 773 | rs267606697 | Disease: Epilepsy, childhood absence 6 (ECA6) [MIM:611942] |
6524 | O95180 (CACNA1H) | G | S | 784 | rs779526640 | Disease: Epilepsy, childhood absence 6 (ECA6) [MIM:611942] |
6525 | O95180 (CACNA1H) | R | C | 788 | rs3751664 | Benign |
6526 | O95180 (CACNA1H) | V | M | 812 | rs28365119 | Benign |
6527 | O95180 (CACNA1H) | V | M | 831 | rs119454949 | Disease: Epilepsy, childhood absence 6 (ECA6) [MIM:611942] |
6528 | O95180 (CACNA1H) | G | S | 848 | rs374272094 | Disease: Epilepsy, childhood absence 6 (ECA6) [MIM:611942] |
6529 | O95180 (CACNA1H) | D | N | 1463 | rs542245543 | Disease: Epilepsy, childhood absence 6 (ECA6) [MIM:611942] |
6530 | O95180 (CACNA1H) | M | I | 1549 | - | Disease: Hyperaldoste ronism, familial, 4 (HALD4) [MIM:617027] |
6531 | O95180 (CACNA1H) | M | V | 1549 | rs786205050 | Disease: Hyperaldoste ronism, familial, 4 (HALD4) [MIM:617027] |
6532 | O95180 (CACNA1H) | R | Q | 1871 | rs58124832 | Benign |
6533 | O95180 (CACNA1H) | V | E | 1951 | rs746967306 | Disease: - |
6534 | O95180 (CACNA1H) | E | G | 1974 | rs3751886 | Benign |
6535 | O95180 (CACNA1H) | R | H | 2060 | rs1054644 | Benign |
6536 | O95180 (CACNA1H) | R | H | 2077 | rs1054645 | Benign |
6537 | O95180 (CACNA1H) | P | L | 2083 | rs759924732 | Disease: Hyperaldoste ronism, familial, 4 (HALD4) [MIM:617027] |
6538 | O95180 (CACNA1H) | P | S | 2173 | rs200675829 | Benign |
6539 | O95182 (NDUFA7) | P | A | 66 | rs2288415 | Benign |
6540 | O95185 (UNC5C) | G | V | 37 | rs2306715 | Benign |
6541 | O95185 (UNC5C) | M | T | 721 | rs2289043 | Benign |
6542 | O95185 (UNC5C) | T | M | 835 | rs137875858 | Disease: Alzheimer disease (AD) [MIM:104300] |
6543 | O95185 (UNC5C) | A | T | 841 | rs34585936 | Benign |
6544 | O95190 (OAZ2) | P | L | 70 | rs3751534 | Benign |
6545 | O95196 (CSPG5) | G | V | 188 | rs3732530 | Benign |
6546 | O95196 (CSPG5) | T | P | 417 | rs34016925 | Benign |
6547 | O95197 (RTN3) | A | E | 6 | rs11551944 | Benign |
6548 | O95197 (RTN3) | D | H | 501 | rs7936660 | Benign |
6549 | O95199 (RCBTB2) | A | T | 263 | rs9332000 | Benign |
6550 | O95199 (RCBTB2) | C | S | 515 | rs9332075 | Benign |
6551 | O95201 (ZNF205) | T | A | 43 | rs909410 | Benign |
6552 | O95201 (ZNF205) | A | D | 255 | rs12445220 | Benign |
6553 | O95206 (PCDH8) | W | R | 7 | rs3742301 | Benign |
6554 | O95206 (PCDH8) | E | A | 39 | rs5030683 | Benign |
6555 | O95206 (PCDH8) | T | A | 367 | rs9596693 | Benign |
6556 | O95206 (PCDH8) | V | A | 743 | rs5030685 | Benign |
6557 | O95208 (EPN2) | V | A | 401 | rs6587220 | Benign |
6558 | O95208 (EPN2) | P | T | 531 | rs1062727 | Benign |
6559 | O95208 (EPN2) | P | T | 532 | rs1062727 | Benign |
6560 | O95218 (ZRANB2) | R | G | 207 | rs11583800 | Benign |
6561 | O95221 (OR5F1) | T | A | 192 | rs35607186 | Benign |
6562 | O95221 (OR5F1) | Y | H | 278 | rs11825964 | Benign |
6563 | O95221 (OR5F1) | S | N | 294 | rs2449134 | Benign |
6564 | O95222 (OR6A2) | A | V | 22 | rs7122644 | Benign |
6565 | O95229 (ZWINT) | A | S | 4 | rs11005328 | Benign |
6566 | O95229 (ZWINT) | R | G | 187 | rs2241666 | Benign |
6567 | O95231 (VENTX) | L | P | 42 | rs2240892 | Benign |
6568 | O95231 (VENTX) | M | V | 79 | rs2240891 | Benign |
6569 | O95231 (VENTX) | E | K | 101 | rs2270192 | Benign |
6570 | O95231 (VENTX) | G | R | 191 | rs9418952 | Benign |
6571 | O95231 (VENTX) | G | D | 247 | rs9418953 | Benign |
6572 | O95235 (KIF20A) | E | K | 63 | rs3734116 | Benign |
6573 | O95235 (KIF20A) | P | L | 839 | rs3172747 | Benign |
6574 | O95236 (APOL3) | S | R | 39 | rs132653 | Benign |
6575 | O95236 (APOL3) | A | V | 135 | rs6000152 | Benign |
6576 | O95237 (LRAT) | P | L | 173 | rs1448665709 | Benign |
6577 | O95237 (LRAT) | S | R | 175 | rs104893848 | Disease: Leber congenital amaurosis 14 (LCA14) [MIM:613341] |
6578 | O95238 (SPDEF) | A | T | 57 | rs2233639 | Benign |
6579 | O95239 (KIF4A) | L | W | 422 | rs1199457 | Benign |
6580 | O95239 (KIF4A) | A | V | 491 | rs2297871 | Benign |
6581 | O95239 (KIF4A) | L | S | 1193 | rs1046485 | Benign |
6582 | O95243 (MBD4) | C | R | 61 | rs2307296 | Benign |
6583 | O95243 (MBD4) | A | S | 273 | rs10342 | Benign |
6584 | O95243 (MBD4) | A | T | 273 | rs10342 | Benign |
6585 | O95243 (MBD4) | S | P | 342 | rs2307289 | Benign |
6586 | O95243 (MBD4) | E | K | 346 | rs140693 | Benign |
6587 | O95243 (MBD4) | I | T | 358 | rs2307298 | Benign |
6588 | O95243 (MBD4) | D | H | 568 | rs2307293 | Benign |
6589 | O95248 (SBF1) | M | V | 418 | rs587776986 | Disease: Charcot- Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284] |
6590 | O95248 (SBF1) | T | A | 1565 | rs200488568 | Disease: Charcot- Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284] |
6591 | O95255 (ABCC6) | G | D | 61 | rs72657696 | Benign |
6592 | O95255 (ABCC6) | R | W | 64 | rs557180313 | Benign |
6593 | O95255 (ABCC6) | A | T | 78 | rs2856597 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6594 | O95255 (ABCC6) | E | K | 125 | rs3853814 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6595 | O95255 (ABCC6) | G | E | 129 | rs72653753 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6596 | O95255 (ABCC6) | A | V | 158 | rs2606921 | Benign |
6597 | O95255 (ABCC6) | G | R | 207 | rs72657697 | Benign |
6598 | O95255 (ABCC6) | R | G | 265 | rs72657698 | Benign |
6599 | O95255 (ABCC6) | K | E | 281 | rs4780606 | Benign |
6600 | O95255 (ABCC6) | S | R | 317 | rs78678589 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6601 | O95255 (ABCC6) | I | V | 319 | rs72657699 | Benign |
6602 | O95255 (ABCC6) | L | R | 355 | rs72653758 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6603 | O95255 (ABCC6) | T | R | 364 | rs72653759 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6604 | O95255 (ABCC6) | N | D | 370 | rs72653760 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6605 | O95255 (ABCC6) | R | W | 382 | rs72653761 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6606 | O95255 (ABCC6) | R | G | 391 | rs72653762 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6607 | O95255 (ABCC6) | K | N | 392 | rs72653763 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6608 | O95255 (ABCC6) | S | G | 398 | rs72653764 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6609 | O95255 (ABCC6) | N | K | 411 | rs9930886 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6610 | O95255 (ABCC6) | V | M | 417 | rs768869262 | Benign |
6611 | O95255 (ABCC6) | C | G | 440 | rs72653766 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6612 | O95255 (ABCC6) | A | P | 455 | rs67996819 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6613 | O95255 (ABCC6) | L | H | 463 | rs72653767 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6614 | O95255 (ABCC6) | L | H | 495 | rs72653769 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6615 | O95255 (ABCC6) | N | K | 497 | rs72653770 | Benign |
6616 | O95255 (ABCC6) | V | I | 514 | rs59157279 | Benign |
6617 | O95255 (ABCC6) | R | Q | 518 | rs72653772 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6618 | O95255 (ABCC6) | S | P | 535 | rs72653773 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6619 | O95255 (ABCC6) | F | S | 551 | rs72653774 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6620 | O95255 (ABCC6) | F | S | 568 | rs66864704 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6621 | O95255 (ABCC6) | S | F | 590 | rs537233133 | Disease: Arterial calcificatio n of infancy, generalized, 2 (GACI2) [MIM:614473] |
6622 | O95255 (ABCC6) | A | V | 594 | rs72653776 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6623 | O95255 (ABCC6) | R | C | 600 | rs72653777 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6624 | O95255 (ABCC6) | V | A | 614 | rs12931472 | Benign |
6625 | O95255 (ABCC6) | H | Q | 632 | rs8058694 | Benign |
6626 | O95255 (ABCC6) | G | C | 663 | rs72653780 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6627 | O95255 (ABCC6) | V | A | 665 | rs4341770 | Benign |
6628 | O95255 (ABCC6) | L | P | 673 | rs67470842 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6629 | O95255 (ABCC6) | L | P | 677 | rs72653782 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6630 | O95255 (ABCC6) | Q | P | 698 | rs72653783 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6631 | O95255 (ABCC6) | E | D | 699 | rs72653784 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6632 | O95255 (ABCC6) | R | K | 724 | rs58073789 | Benign |
6633 | O95255 (ABCC6) | R | L | 724 | - | Benign |
6634 | O95255 (ABCC6) | L | P | 726 | rs72653785 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6635 | O95255 (ABCC6) | I | V | 742 | rs59593133 | Benign |
6636 | O95255 (ABCC6) | M | K | 751 | rs72653786 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6637 | O95255 (ABCC6) | G | R | 755 | rs72653787 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6638 | O95255 (ABCC6) | R | W | 760 | rs72653788 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6639 | O95255 (ABCC6) | R | Q | 765 | rs67561842 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6640 | O95255 (ABCC6) | A | D | 766 | rs72653789 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6641 | O95255 (ABCC6) | D | N | 777 | rs72653790 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6642 | O95255 (ABCC6) | R | Q | 807 | rs72653794 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6643 | O95255 (ABCC6) | R | W | 807 | rs72653793 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6644 | O95255 (ABCC6) | V | M | 810 | rs72653795 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6645 | O95255 (ABCC6) | T | M | 811 | rs72653796 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6646 | O95255 (ABCC6) | A | P | 820 | rs72653797 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6647 | O95255 (ABCC6) | M | V | 848 | rs6416668 | Benign |
6648 | O95255 (ABCC6) | R | S | 881 | rs72653800 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6649 | O95255 (ABCC6) | T | I | 944 | rs72653801 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6650 | O95255 (ABCC6) | L | I | 946 | rs61340537 | Benign |
6651 | O95255 (ABCC6) | A | T | 950 | rs72657689 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6652 | O95255 (ABCC6) | L | H | 953 | rs72657700 | Benign |
6653 | O95255 (ABCC6) | G | R | 992 | rs72657692 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6654 | O95255 (ABCC6) | D | E | 1056 | rs72657694 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6655 | O95255 (ABCC6) | R | W | 1064 | rs41278174 | Benign |
6656 | O95255 (ABCC6) | L | I | 1097 | rs60707953 | Benign |
6657 | O95255 (ABCC6) | R | C | 1114 | rs63749794 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6658 | O95255 (ABCC6) | R | P | 1114 | rs63750427 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6659 | O95255 (ABCC6) | S | L | 1121 | rs63750987 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6660 | O95255 (ABCC6) | S | W | 1121 | rs63750987 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6661 | O95255 (ABCC6) | T | M | 1130 | rs63750459 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6662 | O95255 (ABCC6) | G | A | 1133 | rs63750473 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6663 | O95255 (ABCC6) | R | P | 1138 | rs60791294 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6664 | O95255 (ABCC6) | R | Q | 1138 | rs60791294 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6665 | O95255 (ABCC6) | R | W | 1138 | rs28939701 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6666 | O95255 (ABCC6) | A | T | 1139 | rs63750146 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6667 | O95255 (ABCC6) | R | Q | 1164 | rs63750457 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6668 | O95255 (ABCC6) | G | D | 1203 | rs63750607 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6669 | O95255 (ABCC6) | R | C | 1221 | rs63751215 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6670 | O95255 (ABCC6) | R | H | 1221 | rs63751001 | Disease: Arterial calcificatio n of infancy, generalized, 2 (GACI2) [MIM:614473] |
6671 | O95255 (ABCC6) | L | I | 1226 | rs63750125 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6672 | O95255 (ABCC6) | R | W | 1235 | rs63750402 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6673 | O95255 (ABCC6) | D | H | 1238 | rs63749796 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6674 | O95255 (ABCC6) | W | C | 1241 | rs72657701 | Benign |
6675 | O95255 (ABCC6) | R | Q | 1268 | rs2238472 | Benign |
6676 | O95255 (ABCC6) | V | F | 1298 | rs63751325 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6677 | O95255 (ABCC6) | T | I | 1301 | rs63750494 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6678 | O95255 (ABCC6) | G | R | 1302 | rs63749856 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6679 | O95255 (ABCC6) | A | P | 1303 | rs63750410 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6680 | O95255 (ABCC6) | R | Q | 1314 | rs63751086 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6681 | O95255 (ABCC6) | R | W | 1314 | rs63750759 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6682 | O95255 (ABCC6) | G | S | 1321 | rs63749823 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6683 | O95255 (ABCC6) | L | P | 1335 | rs63750414 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6684 | O95255 (ABCC6) | L | Q | 1335 | rs63750414 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6685 | O95255 (ABCC6) | R | C | 1339 | rs28939702 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6686 | O95255 (ABCC6) | R | H | 1339 | rs63750622 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6687 | O95255 (ABCC6) | R | L | 1339 | rs63750622 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6688 | O95255 (ABCC6) | P | S | 1346 | rs63751112 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6689 | O95255 (ABCC6) | Q | H | 1347 | rs63751111 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6690 | O95255 (ABCC6) | G | R | 1354 | rs63750018 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6691 | O95255 (ABCC6) | R | W | 1357 | rs63750428 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6692 | O95255 (ABCC6) | D | N | 1361 | rs58695352 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6693 | O95255 (ABCC6) | E | K | 1400 | rs63751241 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6694 | O95255 (ABCC6) | Q | K | 1406 | rs387906859 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6695 | O95255 (ABCC6) | I | T | 1424 | rs63750295 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6696 | O95255 (ABCC6) | R | C | 1459 | rs72547524 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
6697 | O95256 (IL18RAP) | V | I | 350 | rs11465716 | Benign |
6698 | O95257 (GADD45G) | G | S | 112 | rs3138505 | Benign |
6699 | O95258 (SLC25A14) | E | A | 55 | rs2143598 | Benign |
6700 | O95259 (KCNH1) | K | N | 217 | rs727502822 | Disease: Temple- Baraitser syndrome (TMBTS) [MIM:611816] |
6701 | O95259 (KCNH1) | S | Y | 352 | rs730882172 | Disease: Zimmermann- Laband syndrome 1 (ZLS1) [MIM:135500] |
6702 | O95259 (KCNH1) | G | R | 375 | rs730882174 | Disease: Zimmermann- Laband syndrome 1 (ZLS1) [MIM:135500] |
6703 | O95259 (KCNH1) | L | V | 379 | rs730882176 | Disease: Zimmermann- Laband syndrome 1 (ZLS1) [MIM:135500] |
6704 | O95259 (KCNH1) | V | L | 383 | rs730882173 | Disease: Zimmermann- Laband syndrome 1 (ZLS1) [MIM:135500] |
6705 | O95259 (KCNH1) | L | F | 489 | rs1553345948 | Disease: Temple- Baraitser syndrome (TMBTS) [MIM:611816] |
6706 | O95259 (KCNH1) | I | V | 494 | rs727502819 | Disease: Zimmermann- Laband syndrome 1 (ZLS1) [MIM:135500] |
6707 | O95259 (KCNH1) | G | R | 496 | rs730882175 | Disease: Zimmermann- Laband syndrome 1 (ZLS1) [MIM:135500] |
6708 | O95259 (KCNH1) | Q | R | 503 | rs727502821 | Disease: Temple- Baraitser syndrome (TMBTS) [MIM:611816] |
6709 | O95263 (PDE8B) | H | P | 305 | rs121918360 | Disease: Primary pigmented nodular adrenocortic al disease 3 (PPNAD3) [MIM:614190] |
6710 | O95264 (HTR3B) | Y | S | 129 | rs1176744 | Benign |
6711 | O95264 (HTR3B) | I | T | 143 | rs34550504 | Benign |
6712 | O95264 (HTR3B) | S | R | 156 | rs72466469 | Benign |
6713 | O95264 (HTR3B) | V | I | 183 | rs17116138 | Benign |
6714 | O95267 (RASGRP1) | T | I | 214 | - | Disease: Immunodefici ency 64 (IMD64) [MIM:618534] |
6715 | O95278 (EPM2A) | S | P | 25 | - | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6716 | O95278 (EPM2A) | E | K | 28 | - | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6717 | O95278 (EPM2A) | W | G | 32 | rs104893955 | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6718 | O95278 (EPM2A) | A | P | 46 | rs374338349 | Benign |
6719 | O95278 (EPM2A) | F | L | 84 | rs1362231306 | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6720 | O95278 (EPM2A) | F | L | 88 | rs1034706422 | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6721 | O95278 (EPM2A) | R | P | 91 | - | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6722 | O95278 (EPM2A) | R | C | 108 | rs137852915 | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6723 | O95278 (EPM2A) | E | D | 114 | - | Benign |
6724 | O95278 (EPM2A) | K | N | 140 | - | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6725 | O95278 (EPM2A) | N | Y | 148 | - | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6726 | O95278 (EPM2A) | R | H | 171 | rs137852916 | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6727 | O95278 (EPM2A) | T | A | 187 | - | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6728 | O95278 (EPM2A) | T | I | 194 | rs375544596 | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6729 | O95278 (EPM2A) | E | K | 210 | - | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6730 | O95278 (EPM2A) | G | S | 240 | - | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6731 | O95278 (EPM2A) | G | S | 279 | rs137852917 | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6732 | O95278 (EPM2A) | Q | L | 293 | rs796052427 | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6733 | O95278 (EPM2A) | Y | N | 294 | - | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6734 | O95278 (EPM2A) | P | L | 301 | rs796052428 | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6735 | O95278 (EPM2A) | L | W | 310 | - | Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
6736 | O95279 (KCNK5) | P | T | 465 | rs9462487 | Benign |
6737 | O95292 (VAPB) | T | I | 46 | rs281875284 | Disease: Amyotrophic lateral sclerosis 8 (ALS8) [MIM:608627] |
6738 | O95292 (VAPB) | P | S | 56 | rs74315431 | Disease: Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD) [MIM:182980] |
6739 | O95294 (RASAL1) | V | L | 11 | rs7960087 | Benign |
6740 | O95294 (RASAL1) | T | M | 58 | rs34598602 | Benign |
6741 | O95294 (RASAL1) | R | H | 321 | rs1284879 | Benign |
6742 | O95295 (SNAPIN) | S | C | 112 | rs1802461 | Benign |
6743 | O95298 (NDUFC2) | L | V | 46 | rs8875 | Benign |
6744 | O95299 (NDUFA10) | A | G | 2 | rs11541494 | Benign |
6745 | O95299 (NDUFA10) | Q | R | 142 | rs387906873 | Disease: Mitochondria l complex I deficiency, nuclear type 22 (MC1DN22) [MIM:618243] |
6746 | O95319 (CELF2) | D | H | 438 | rs1050942 | Benign |
6747 | O95340 (PAPSS2) | E | K | 10 | rs17173698 | Benign |
6748 | O95340 (PAPSS2) | C | Y | 43 | - | Disease: Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847] |
6749 | O95340 (PAPSS2) | T | R | 48 | rs121908951 | Disease: Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847] |
6750 | O95340 (PAPSS2) | L | Q | 76 | - | Disease: Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847] |
6751 | O95340 (PAPSS2) | E | K | 183 | rs774709274 | Benign |
6752 | O95340 (PAPSS2) | G | D | 270 | rs138943074 | Disease: Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847] |
6753 | O95340 (PAPSS2) | M | L | 281 | rs45624631 | Benign |
6754 | O95340 (PAPSS2) | V | M | 291 | rs45467596 | Benign |
6755 | O95340 (PAPSS2) | R | K | 432 | rs17129133 | Benign |
6756 | O95342 (ABCB11) | S | L | 56 | rs11568361 | Benign |
6757 | O95342 (ABCB11) | E | G | 186 | rs72551307 | Disease: Cholestasis, benign recurrent intrahepatic , 2 (BRIC2) [MIM:605479] |
6758 | O95342 (ABCB11) | I | V | 206 | rs11568357 | Benign |
6759 | O95342 (ABCB11) | G | V | 238 | rs72551306 | Disease: Cholestasis, progressive familial intrahepatic , 2 (PFIC2) [MIM:601847] |
6760 | O95342 (ABCB11) | V | A | 284 | rs200739891 | Benign |
6761 | O95342 (ABCB11) | V | L | 284 | - | Disease: Cholestasis, progressive familial intrahepatic , 2 (PFIC2) [MIM:601847] |
6762 | O95342 (ABCB11) | E | G | 297 | rs11568372 | Disease: Cholestasis, progressive familial intrahepatic , 2 (PFIC2) [MIM:601847] |
6763 | O95342 (ABCB11) | R | K | 299 | rs2287617 | Benign |
6764 | O95342 (ABCB11) | C | S | 336 | rs72551305 | Disease: Cholestasis, progressive familial intrahepatic , 2 (PFIC2) [MIM:601847] |
6765 | O95342 (ABCB11) | R | Q | 415 | rs371656014 | Benign |
6766 | O95342 (ABCB11) | R | T | 432 | rs121908935 | Disease: Cholestasis, benign recurrent intrahepatic , 2 (BRIC2) [MIM:605479] |
6767 | O95342 (ABCB11) | V | A | 444 | rs2287622 | Benign |
6768 | O95342 (ABCB11) | V | D | 444 | rs2287622 | Benign |
6769 | O95342 (ABCB11) | V | G | 444 | rs2287622 | Benign |
6770 | O95342 (ABCB11) | K | E | 461 | rs1274558905 | Disease: Cholestasis, progressive familial intrahepatic , 2 (PFIC2) [MIM:601847] |
6771 | O95342 (ABCB11) | Y | C | 472 | rs369860506 | Disease: Cholestasis, progressive familial intrahepatic , 2 (PFIC2) [MIM:601847] |
6772 | O95342 (ABCB11) | D | G | 482 | rs72549402 | Disease: Cholestasis, progressive familial intrahepatic , 2 (PFIC2) [MIM:601847] |
6773 | O95342 (ABCB11) | A | T | 570 | rs886043807 | Disease: Cholestasis, benign recurrent intrahepatic , 2 (BRIC2) [MIM:605479] |
6774 | O95342 (ABCB11) | N | S | 591 | rs11568367 | Benign |
6775 | O95342 (ABCB11) | R | G | 616 | - | Benign |
6776 | O95342 (ABCB11) | T | A | 619 | rs912519986 | Benign |
6777 | O95342 (ABCB11) | M | V | 677 | rs11568364 | Benign |
6778 | O95342 (ABCB11) | R | H | 698 | rs138642043 | Benign |
6779 | O95342 (ABCB11) | A | V | 865 | rs118109635 | Benign |
6780 | O95342 (ABCB11) | T | P | 923 | rs777469571 | Disease: Cholestasis, benign recurrent intrahepatic , 2 (BRIC2) [MIM:605479] |
6781 | O95342 (ABCB11) | A | P | 926 | rs72549400 | Disease: Cholestasis, benign recurrent intrahepatic , 2 (BRIC2) [MIM:605479] |
6782 | O95342 (ABCB11) | R | Q | 958 | rs761363245 | Benign |
6783 | O95342 (ABCB11) | G | R | 982 | rs72549399 | Disease: Cholestasis, progressive familial intrahepatic , 2 (PFIC2) [MIM:601847] |
6784 | O95342 (ABCB11) | G | D | 1004 | - | Disease: Cholestasis, progressive familial intrahepatic , 2 (PFIC2) [MIM:601847] |
6785 | O95342 (ABCB11) | R | C | 1050 | rs72549398 | Disease: Cholestasis, benign recurrent intrahepatic , 2 (BRIC2) [MIM:605479] |
6786 | O95342 (ABCB11) | R | H | 1128 | rs756220860 | Disease: Cholestasis, benign recurrent intrahepatic , 2 (BRIC2) [MIM:605479] |
6787 | O95342 (ABCB11) | D | V | 1131 | - | Disease: Cholestasis, progressive familial intrahepatic , 2 (PFIC2) [MIM:601847] |
6788 | O95342 (ABCB11) | R | C | 1153 | rs72549395 | Disease: Cholestasis, progressive familial intrahepatic , 2 (PFIC2) [MIM:601847] |
6789 | O95342 (ABCB11) | E | K | 1186 | rs1521808 | Benign |
6790 | O95342 (ABCB11) | R | Q | 1268 | rs72549394 | Disease: Cholestasis, progressive familial intrahepatic , 2 (PFIC2) [MIM:601847] |
6791 | O95343 (SIX3) | G | C | 37 | rs199823175 | Benign |
6792 | O95343 (SIX3) | G | D | 69 | rs121917881 | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6793 | O95343 (SIX3) | M | V | 79 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6794 | O95343 (SIX3) | V | G | 92 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6795 | O95343 (SIX3) | A | D | 93 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6796 | O95343 (SIX3) | I | V | 105 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6797 | O95343 (SIX3) | W | C | 113 | rs137853021 | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6798 | O95343 (SIX3) | S | L | 114 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6799 | O95343 (SIX3) | V | D | 138 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6800 | O95343 (SIX3) | F | I | 157 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6801 | O95343 (SIX3) | A | S | 167 | rs387906868 | Disease: Schizencepha ly (SCHZC) [MIM:269160] |
6802 | O95343 (SIX3) | A | V | 172 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6803 | O95343 (SIX3) | H | P | 173 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6804 | O95343 (SIX3) | Y | H | 174 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6805 | O95343 (SIX3) | T | I | 202 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6806 | O95343 (SIX3) | F | V | 213 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6807 | O95343 (SIX3) | R | P | 218 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6808 | O95343 (SIX3) | R | W | 218 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6809 | O95343 (SIX3) | L | V | 226 | rs121917878 | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6810 | O95343 (SIX3) | Q | P | 227 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6811 | O95343 (SIX3) | P | R | 231 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6812 | O95343 (SIX3) | G | C | 244 | rs989286015 | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6813 | O95343 (SIX3) | V | A | 250 | rs121917880 | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6814 | O95343 (SIX3) | F | L | 254 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6815 | O95343 (SIX3) | R | G | 257 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6816 | O95343 (SIX3) | R | P | 257 | rs121917879 | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6817 | O95343 (SIX3) | R | W | 257 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6818 | O95343 (SIX3) | R | L | 258 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6819 | O95343 (SIX3) | R | H | 262 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6820 | O95343 (SIX3) | R | M | 269 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6821 | O95343 (SIX3) | R | S | 269 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6822 | O95343 (SIX3) | R | T | 269 | - | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6823 | O95343 (SIX3) | P | L | 297 | rs780942050 | Disease: Holoprosence phaly 2 (HPE2) [MIM:157170] |
6824 | O95347 (SMC2) | E | K | 1009 | rs4562395 | Benign |
6825 | O95352 (ATG7) | V | A | 471 | rs36117895 | Benign |
6826 | O95359 (TACC2) | V | I | 170 | rs11200385 | Benign |
6827 | O95359 (TACC2) | L | F | 830 | rs10887063 | Benign |
6828 | O95359 (TACC2) | W | R | 1103 | rs7073433 | Benign |
6829 | O95359 (TACC2) | A | T | 1425 | rs4752642 | Benign |
6830 | O95359 (TACC2) | P | L | 1492 | rs7920896 | Benign |
6831 | O95359 (TACC2) | E | K | 1916 | rs12765679 | Benign |
6832 | O95359 (TACC2) | I | T | 2078 | rs7083331 | Benign |
6833 | O95359 (TACC2) | N | S | 2102 | rs3750843 | Benign |
6834 | O95359 (TACC2) | V | A | 2197 | rs2295873 | Benign |
6835 | O95359 (TACC2) | A | V | 2210 | rs2295874 | Benign |
6836 | O95359 (TACC2) | P | L | 2216 | rs2295875 | Benign |
6837 | O95359 (TACC2) | L | H | 2261 | rs2295876 | Benign |
6838 | O95359 (TACC2) | E | D | 2271 | rs11200483 | Benign |
6839 | O95359 (TACC2) | V | I | 2718 | rs2295878 | Benign |
6840 | O95359 (TACC2) | A | T | 2732 | rs2295879 | Benign |
6841 | O95359 (TACC2) | Q | K | 2900 | rs1063627 | Benign |
6842 | O95361 (TRIM16) | E | D | 121 | rs2074890 | Benign |
6843 | O95361 (TRIM16) | R | W | 493 | rs3174720 | Benign |
6844 | O95361 (TRIM16) | G | V | 561 | rs1060903 | Benign |
6845 | O95363 (FARS2) | S | C | 57 | rs34382405 | Benign |
6846 | O95363 (FARS2) | D | Y | 142 | rs145555213 | Disease: Spastic paraplegia 77, autosomal recessive (SPG77) [MIM:617046] |
6847 | O95363 (FARS2) | Y | C | 144 | rs397514610 | Disease: Combined oxidative phosphorylat ion deficiency 14 (COXPD14) [MIM:614946] |
6848 | O95363 (FARS2) | N | S | 280 | rs11243011 | Benign |
6849 | O95363 (FARS2) | I | T | 329 | rs397514611 | Disease: Combined oxidative phosphorylat ion deficiency 14 (COXPD14) [MIM:614946] |
6850 | O95363 (FARS2) | D | V | 391 | rs397514612 | Disease: Combined oxidative phosphorylat ion deficiency 14 (COXPD14) [MIM:614946] |
6851 | O95371 (OR2C1) | G | S | 16 | rs1218762 | Benign |
6852 | O95371 (OR2C1) | C | W | 149 | rs1218763 | Benign |
6853 | O95371 (OR2C1) | R | H | 229 | rs11648783 | Benign |
6854 | O95373 (IPO7) | T | N | 111 | rs11042340 | Benign |
6855 | O95376 (ARIH2) | E | K | 24 | rs11507 | Benign |
6856 | O95376 (ARIH2) | E | D | 29 | rs34221642 | Benign |
6857 | O95379 (TNFAIP8) | S | C | 151 | rs3203922 | Benign |
6858 | O95382 (MAP3K6) | T | I | 455 | rs1138294 | Benign |
6859 | O95382 (MAP3K6) | R | C | 499 | rs11247641 | Benign |
6860 | O95382 (MAP3K6) | R | W | 544 | rs55671988 | Benign |
6861 | O95382 (MAP3K6) | N | K | 622 | rs35659744 | Benign |
6862 | O95382 (MAP3K6) | R | G | 668 | rs55869163 | Benign |
6863 | O95382 (MAP3K6) | R | L | 673 | rs56359841 | Benign |
6864 | O95382 (MAP3K6) | S | N | 969 | rs17856498 | Benign |
6865 | O95382 (MAP3K6) | A | T | 1061 | rs55990440 | Benign |
6866 | O95382 (MAP3K6) | G | A | 1233 | rs17162549 | Benign |
6867 | O95388 (CCN4) | A | S | 205 | rs35513885 | Benign |
6868 | O95389 (CCN6) | Q | H | 56 | rs1230345 | Benign |
6869 | O95389 (CCN6) | R | C | 60 | rs17073260 | Benign |
6870 | O95389 (CCN6) | C | R | 78 | rs121908902 | Disease: Progressive pseudorheuma toid arthropathy of childhood (PPAC) [MIM:208230] |
6871 | O95389 (CCN6) | C | Y | 78 | - | Disease: Progressive pseudorheuma toid arthropathy of childhood (PPAC) [MIM:208230] |
6872 | O95389 (CCN6) | G | E | 83 | rs147337485 | Benign |
6873 | O95389 (CCN6) | C | R | 114 | - | Disease: Progressive pseudorheuma toid arthropathy of childhood (PPAC) [MIM:208230] |
6874 | O95389 (CCN6) | C | W | 114 | - | Disease: Progressive pseudorheuma toid arthropathy of childhood (PPAC) [MIM:208230] |
6875 | O95389 (CCN6) | C | Y | 114 | - | Disease: Progressive pseudorheuma toid arthropathy of childhood (PPAC) [MIM:208230] |
6876 | O95389 (CCN6) | C | G | 223 | rs782813346 | Disease: Progressive pseudorheuma toid arthropathy of childhood (PPAC) [MIM:208230] |
6877 | O95389 (CCN6) | G | V | 226 | - | Disease: Progressive pseudorheuma toid arthropathy of childhood (PPAC) [MIM:208230] |
6878 | O95389 (CCN6) | S | P | 334 | rs121908903 | Disease: Progressive pseudorheuma toid arthropathy of childhood (PPAC) [MIM:208230] |
6879 | O95389 (CCN6) | C | Y | 337 | - | Disease: Progressive pseudorheuma toid arthropathy of childhood (PPAC) [MIM:208230] |
6880 | O95391 (SLU7) | I | V | 111 | rs17856338 | Benign |
6881 | O95391 (SLU7) | M | T | 229 | rs2961944 | Benign |
6882 | O95393 (BMP10) | T | S | 200 | rs2231342 | Benign |
6883 | O95393 (BMP10) | N | K | 250 | rs2231345 | Benign |
6884 | O95394 (PGM3) | L | S | 83 | rs267608260 | Disease: Immunodefici ency 23 (IMD23) [MIM:615816] |
6885 | O95394 (PGM3) | D | H | 239 | rs869312886 | Disease: Immunodefici ency 23 (IMD23) [MIM:615816] |
6886 | O95394 (PGM3) | N | S | 246 | rs587777562 | Disease: Immunodefici ency 23 (IMD23) [MIM:615816] |
6887 | O95394 (PGM3) | D | E | 297 | rs587777415 | Disease: Immunodefici ency 23 (IMD23) [MIM:615816] |
6888 | O95394 (PGM3) | Q | R | 451 | rs587777565 | Disease: Immunodefici ency 23 (IMD23) [MIM:615816] |
6889 | O95394 (PGM3) | D | N | 466 | rs473267 | Benign |
6890 | O95394 (PGM3) | E | Q | 501 | rs587777413 | Disease: Immunodefici ency 23 (IMD23) [MIM:615816] |
6891 | O95394 (PGM3) | D | Y | 502 | rs267608261 | Disease: Immunodefici ency 23 (IMD23) [MIM:615816] |
6892 | O95396 (MOCS3) | S | A | 429 | rs7269297 | Benign |
6893 | O95398 (RAPGEF3) | A | P | 16 | rs11168230 | Benign |
6894 | O95398 (RAPGEF3) | R | G | 193 | rs2016123 | Benign |
6895 | O95398 (RAPGEF3) | G | S | 374 | rs12422983 | Benign |
6896 | O95398 (RAPGEF3) | C | Y | 517 | rs61709815 | Benign |
6897 | O95399 (UTS2) | I | T | 12 | rs34305100 | Benign |
6898 | O95399 (UTS2) | S | N | 74 | rs2890565 | Benign |
6899 | O95400 (CD2BP2) | G | D | 231 | rs13330462 | Benign |
6900 | O95400 (CD2BP2) | T | I | 262 | rs34391305 | Benign |
6901 | O95405 (ZFYVE9) | Y | C | 287 | rs9803965 | Benign |
6902 | O95405 (ZFYVE9) | Q | P | 414 | rs3790525 | Benign |
6903 | O95405 (ZFYVE9) | I | V | 639 | rs11809887 | Benign |
6904 | O95409 (ZIC2) | Q | P | 36 | rs1185333947 | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6905 | O95409 (ZIC2) | D | N | 37 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6906 | O95409 (ZIC2) | D | N | 128 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6907 | O95409 (ZIC2) | D | F | 152 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6908 | O95409 (ZIC2) | S | N | 272 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6909 | O95409 (ZIC2) | H | L | 286 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6910 | O95409 (ZIC2) | H | Q | 286 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6911 | O95409 (ZIC2) | H | Y | 286 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6912 | O95409 (ZIC2) | H | Y | 291 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6913 | O95409 (ZIC2) | W | R | 304 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6914 | O95409 (ZIC2) | F | C | 314 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6915 | O95409 (ZIC2) | R | L | 325 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6916 | O95409 (ZIC2) | R | S | 325 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6917 | O95409 (ZIC2) | H | Y | 327 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6918 | O95409 (ZIC2) | C | F | 335 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6919 | O95409 (ZIC2) | R | P | 373 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6920 | O95409 (ZIC2) | Y | N | 402 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6921 | O95409 (ZIC2) | T | K | 403 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6922 | O95409 (ZIC2) | H | R | 404 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6923 | O95409 (ZIC2) | R | W | 409 | - | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6924 | O95409 (ZIC2) | H | Q | 415 | rs794729641 | Disease: Holoprosence phaly 5 (HPE5) [MIM:609637] |
6925 | O95415 (BRI3) | T | A | 123 | rs12865 | Benign |
6926 | O95425 (SVIL) | V | A | 189 | rs10160013 | Benign |
6927 | O95425 (SVIL) | V | I | 422 | rs1247696 | Benign |
6928 | O95425 (SVIL) | V | L | 1041 | rs7070135 | Benign |
6929 | O95425 (SVIL) | P | A | 1235 | rs2368406 | Benign |
6930 | O95425 (SVIL) | S | P | 1688 | rs11007612 | Benign |
6931 | O95425 (SVIL) | I | V | 2005 | rs7921306 | Benign |
6932 | O95425 (SVIL) | A | V | 2041 | rs17694739 | Benign |
6933 | O95427 (PIGN) | K | E | 162 | rs17069506 | Benign |
6934 | O95427 (PIGN) | H | D | 229 | rs9320001 | Benign |
6935 | O95427 (PIGN) | L | F | 469 | rs3862712 | Benign |
6936 | O95427 (PIGN) | I | L | 470 | rs3862712 | Benign |
6937 | O95427 (PIGN) | R | Q | 709 | rs397514475 | Disease: Multiple congenital anomalies- hypotonia- seizures syndrome 1 (MCAHS1) [MIM:614080] |
6938 | O95427 (PIGN) | F | C | 904 | rs34231046 | Benign |
6939 | O95427 (PIGN) | F | L | 904 | rs34231046 | Benign |
6940 | O95428 (PAPLN) | S | G | 33 | rs2280792 | Benign |
6941 | O95428 (PAPLN) | A | T | 191 | rs741842 | Benign |
6942 | O95428 (PAPLN) | N | H | 356 | rs17126331 | Benign |
6943 | O95428 (PAPLN) | V | I | 443 | rs17126352 | Benign |
6944 | O95428 (PAPLN) | A | V | 461 | rs17126354 | Benign |
6945 | O95428 (PAPLN) | H | R | 628 | rs17182244 | Benign |
6946 | O95428 (PAPLN) | Q | H | 723 | rs2242616 | Benign |
6947 | O95428 (PAPLN) | G | R | 896 | rs177386 | Benign |
6948 | O95428 (PAPLN) | L | V | 1192 | rs2107731 | Benign |
6949 | O95428 (PAPLN) | T | M | 1201 | rs4903104 | Benign |
6950 | O95428 (PAPLN) | S | T | 1260 | rs11626824 | Benign |
6951 | O95436 (SLC34A2) | V | A | 45 | rs35426730 | Benign |
6952 | O95436 (SLC34A2) | G | R | 106 | rs137853142 | Disease: Pulmonary alveolar microlithias is (PALM) [MIM:265100] |
6953 | O95436 (SLC34A2) | D | G | 634 | rs6448389 | Benign |
6954 | O95447 (LCA5L) | G | S | 17 | rs2837029 | Benign |
6955 | O95447 (LCA5L) | G | S | 547 | rs11558767 | Benign |
6956 | O95450 (ADAMTS2) | V | M | 74 | rs2271211 | Benign |
6957 | O95450 (ADAMTS2) | R | H | 241 | rs11750821 | Benign |
6958 | O95450 (ADAMTS2) | V | I | 245 | rs398829 | Benign |
6959 | O95450 (ADAMTS2) | E | K | 331 | rs17667857 | Benign |
6960 | O95450 (ADAMTS2) | G | R | 665 | rs35372714 | Benign |
6961 | O95450 (ADAMTS2) | R | Q | 827 | rs35445112 | Benign |
6962 | O95450 (ADAMTS2) | P | S | 1177 | rs1054480 | Benign |
6963 | O95452 (GJB6) | T | M | 5 | rs104894414 | Disease: Deafness, autosomal dominant, 3B (DFNA3B) [MIM:612643] |
6964 | O95452 (GJB6) | G | R | 11 | rs104894415 | Disease: Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500] |
6965 | O95452 (GJB6) | V | E | 37 | rs104894416 | Disease: Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500] |
6966 | O95452 (GJB6) | A | V | 88 | rs28937872 | Disease: Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500] |
6967 | O95452 (GJB6) | S | G | 139 | - | Benign |
6968 | O95452 (GJB6) | N | S | 159 | rs35277762 | Benign |
6969 | O95452 (GJB6) | S | T | 199 | rs111033338 | Benign |
6970 | O95453 (PARN) | A | V | 383 | rs786200999 | Disease: Dyskeratosis congenita, autosomal recessive, 6 (DKCB6) [MIM:616353] |
6971 | O95453 (PARN) | K | R | 421 | rs777090017 | Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 4 (PFBMFT4) [MIM:616371] |
6972 | O95455 (TGDS) | G | S | 15 | rs34991132 | Benign |
6973 | O95455 (TGDS) | E | G | 90 | rs724160004 | Disease: Catel-Manzke syndrome (CATMANS) [MIM:616145] |
6974 | O95455 (TGDS) | F | L | 98 | rs727502808 | Disease: Catel-Manzke syndrome (CATMANS) [MIM:616145] |
6975 | O95455 (TGDS) | A | S | 100 | rs140430952 | Disease: Catel-Manzke syndrome (CATMANS) [MIM:616145] |
6976 | O95455 (TGDS) | Y | H | 234 | rs544436734 | Disease: Catel-Manzke syndrome (CATMANS) [MIM:616145] |
6977 | O95455 (TGDS) | N | D | 298 | rs724160005 | Disease: Catel-Manzke syndrome (CATMANS) [MIM:616145] |
6978 | O95456 (PSMG1) | I | V | 166 | rs8131611 | Benign |
6979 | O95460 (MATN4) | L | F | 13 | rs2743307 | Benign |
6980 | O95460 (MATN4) | R | S | 164 | rs2072788 | Benign |
6981 | O95461 (LARGE1) | R | G | 68 | rs470035 | Benign |
6982 | O95461 (LARGE1) | R | P | 68 | rs135311 | Benign |
6983 | O95461 (LARGE1) | S | F | 331 | rs267607210 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154] |
6984 | O95461 (LARGE1) | C | Y | 443 | - | Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154] |
6985 | O95461 (LARGE1) | W | R | 495 | rs267607209 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154] |
6986 | O95461 (LARGE1) | E | K | 509 | rs121908675 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B6 (MDDGB6) [MIM:608840] |
6987 | O95461 (LARGE1) | R | H | 665 | rs1046166 | Benign |
6988 | O95470 (SGPL1) | V | L | 21 | rs12770335 | Benign |
6989 | O95470 (SGPL1) | I | T | 184 | rs201533115 | Disease: - |
6990 | O95470 (SGPL1) | R | Q | 222 | rs769259446 | Disease: Nephrotic syndrome 14 (NPHS14) [MIM:617575] |
6991 | O95470 (SGPL1) | R | W | 222 | rs1131692255 | Disease: Nephrotic syndrome 14 (NPHS14) [MIM:617575] |
6992 | O95470 (SGPL1) | S | I | 346 | rs1131692256 | Benign |
6993 | O95471 (CLDN7) | A | T | 133 | rs17849410 | Benign |
6994 | O95471 (CLDN7) | V | A | 197 | rs4562 | Benign |
6995 | O95473 (SYNGR4) | R | W | 27 | rs919804 | Benign |
6996 | O95475 (SIX6) | H | N | 141 | rs33912345 | Benign |
6997 | O95476 (CTDNEP1) | T | A | 12 | rs3744399 | Benign |
6998 | O95477 (ABCA1) | P | L | 85 | rs145183203 | Disease: High density lipoprotein deficiency 2 (HDLD2) [MIM:604091] |
6999 | O95477 (ABCA1) | R | K | 219 | rs2230806 | Benign |
7000 | O95477 (ABCA1) | R | C | 230 | rs9282541 | Benign |
7001 | O95477 (ABCA1) | P | A | 248 | rs142625938 | Benign |
7002 | O95477 (ABCA1) | A | T | 255 | rs758100110 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7003 | O95477 (ABCA1) | E | K | 284 | - | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7004 | O95477 (ABCA1) | S | C | 364 | rs775035559 | Benign |
7005 | O95477 (ABCA1) | V | A | 399 | rs9282543 | Benign |
7006 | O95477 (ABCA1) | K | Q | 401 | rs138487227 | Benign |
7007 | O95477 (ABCA1) | Y | C | 482 | - | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7008 | O95477 (ABCA1) | R | W | 496 | rs147675550 | Benign |
7009 | O95477 (ABCA1) | R | W | 587 | rs2853574 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7010 | O95477 (ABCA1) | W | L | 590 | rs137854496 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7011 | O95477 (ABCA1) | W | S | 590 | rs137854496 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7012 | O95477 (ABCA1) | Q | R | 597 | rs2853578 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7013 | O95477 (ABCA1) | R | Q | 638 | rs374190304 | Benign |
7014 | O95477 (ABCA1) | V | M | 771 | rs2066718 | Benign |
7015 | O95477 (ABCA1) | T | P | 774 | rs35819696 | Benign |
7016 | O95477 (ABCA1) | T | S | 774 | - | Benign |
7017 | O95477 (ABCA1) | K | N | 776 | rs138880920 | Benign |
7018 | O95477 (ABCA1) | E | G | 815 | rs145582736 | Benign |
7019 | O95477 (ABCA1) | V | I | 825 | rs2066715 | Benign |
7020 | O95477 (ABCA1) | W | R | 840 | rs1322998567 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7021 | O95477 (ABCA1) | I | M | 883 | rs2066714 | Benign |
7022 | O95477 (ABCA1) | T | I | 929 | - | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7023 | O95477 (ABCA1) | N | H | 935 | rs28937314 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7024 | O95477 (ABCA1) | N | S | 935 | rs28937313 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7025 | O95477 (ABCA1) | A | V | 937 | rs137854495 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7026 | O95477 (ABCA1) | A | D | 1046 | rs141021096 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7027 | O95477 (ABCA1) | V | I | 1054 | rs13306072 | Benign |
7028 | O95477 (ABCA1) | P | S | 1065 | - | Benign |
7029 | O95477 (ABCA1) | R | C | 1068 | rs745593394 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7030 | O95477 (ABCA1) | M | T | 1091 | - | Disease: High density lipoprotein deficiency 2 (HDLD2) [MIM:604091] |
7031 | O95477 (ABCA1) | D | Y | 1099 | rs28933692 | Disease: High density lipoprotein deficiency 2 (HDLD2) [MIM:604091] |
7032 | O95477 (ABCA1) | E | D | 1172 | rs33918808 | Benign |
7033 | O95477 (ABCA1) | S | F | 1181 | rs76881554 | Benign |
7034 | O95477 (ABCA1) | G | V | 1216 | rs562403512 | Benign |
7035 | O95477 (ABCA1) | D | N | 1289 | rs137854500 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7036 | O95477 (ABCA1) | R | T | 1341 | rs147743782 | Benign |
7037 | O95477 (ABCA1) | S | G | 1376 | rs145689805 | Benign |
7038 | O95477 (ABCA1) | L | F | 1379 | - | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7039 | O95477 (ABCA1) | C | R | 1477 | rs137854494 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7040 | O95477 (ABCA1) | S | L | 1506 | rs137854497 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7041 | O95477 (ABCA1) | I | R | 1517 | - | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7042 | O95477 (ABCA1) | I | T | 1555 | rs1997618 | Benign |
7043 | O95477 (ABCA1) | K | R | 1587 | rs2230808 | Benign |
7044 | O95477 (ABCA1) | N | D | 1611 | - | Disease: - |
7045 | O95477 (ABCA1) | R | Q | 1615 | rs1251839800 | Benign |
7046 | O95477 (ABCA1) | L | P | 1648 | rs1883024 | Benign |
7047 | O95477 (ABCA1) | A | T | 1670 | rs1203589782 | Benign |
7048 | O95477 (ABCA1) | R | Q | 1680 | rs150125857 | Benign |
7049 | O95477 (ABCA1) | R | W | 1680 | rs137854498 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7050 | O95477 (ABCA1) | V | D | 1704 | - | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7051 | O95477 (ABCA1) | S | C | 1731 | rs760507032 | Benign |
7052 | O95477 (ABCA1) | N | H | 1800 | rs146292819 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7053 | O95477 (ABCA1) | R | Q | 1851 | rs1055285452 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7054 | O95477 (ABCA1) | R | S | 1901 | - | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7055 | O95477 (ABCA1) | R | Q | 1925 | rs142688906 | Benign |
7056 | O95477 (ABCA1) | F | S | 2009 | rs137854499 | Disease: High density lipoprotein deficiency 2 (HDLD2) [MIM:604091] |
7057 | O95477 (ABCA1) | R | W | 2081 | rs137854501 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7058 | O95477 (ABCA1) | P | L | 2150 | rs369098049 | Disease: High density lipoprotein deficiency 2 (HDLD2) [MIM:604091] |
7059 | O95477 (ABCA1) | L | P | 2168 | rs2853577 | Benign |
7060 | O95477 (ABCA1) | Q | H | 2196 | rs564764153 | Disease: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] |
7061 | O95477 (ABCA1) | D | E | 2243 | rs34879708 | Benign |
7062 | O95477 (ABCA1) | V | I | 2244 | rs144588452 | Benign |
7063 | O95478 (NSA2) | R | C | 11 | rs3733793 | Benign |
7064 | O95479 (H6PD) | P | L | 146 | - | Disease: Cortisone reductase deficiency 1 (CORTRD1) [MIM:604931] |
7065 | O95479 (H6PD) | D | A | 151 | rs34603401 | Benign |
7066 | O95479 (H6PD) | R | Q | 218 | rs35525021 | Benign |
7067 | O95479 (H6PD) | G | D | 359 | - | Disease: Cortisone reductase deficiency 1 (CORTRD1) [MIM:604931] |
7068 | O95479 (H6PD) | N | D | 484 | rs35404275 | Benign |
7069 | O95479 (H6PD) | P | L | 554 | rs17368528 | Benign |
7070 | O95486 (SEC24A) | S | G | 261 | rs7718102 | Benign |
7071 | O95486 (SEC24A) | T | I | 302 | rs17851746 | Benign |
7072 | O95486 (SEC24A) | T | M | 396 | rs17851745 | Benign |
7073 | O95487 (SEC24B) | A | G | 456 | rs35705351 | Benign |
7074 | O95497 (VNN1) | T | I | 26 | rs2294757 | Benign |
7075 | O95497 (VNN1) | A | T | 63 | - | Benign |
7076 | O95497 (VNN1) | N | S | 131 | rs2272996 | Benign |
7077 | O95497 (VNN1) | V | L | 136 | rs45610032 | Benign |
7078 | O95497 (VNN1) | D | N | 146 | rs45624336 | Benign |
7079 | O95497 (VNN1) | E | D | 296 | rs45523444 | Benign |
7080 | O95497 (VNN1) | A | E | 325 | rs34535050 | Benign |
7081 | O95497 (VNN1) | T | A | 336 | rs45562238 | Benign |
7082 | O95497 (VNN1) | I | T | 373 | rs35938565 | Benign |
7083 | O95498 (VNN2) | T | N | 17 | rs33950336 | Benign |
7084 | O95498 (VNN2) | V | A | 30 | rs2294760 | Benign |
7085 | O95498 (VNN2) | D | E | 112 | rs35993077 | Benign |
7086 | O95498 (VNN2) | V | I | 241 | rs33920182 | Benign |
7087 | O95498 (VNN2) | T | S | 349 | rs36092168 | Benign |
7088 | O95498 (VNN2) | L | M | 404 | rs4895944 | Benign |
7089 | O95500 (CLDN14) | T | M | 4 | rs113831133 | Benign |
7090 | O95500 (CLDN14) | R | H | 81 | rs368027306 | Disease: Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] |
7091 | O95500 (CLDN14) | V | D | 85 | rs74315437 | Disease: Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] |
7092 | O95500 (CLDN14) | I | V | 86 | - | Benign |
7093 | O95500 (CLDN14) | S | I | 87 | - | Disease: Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] |
7094 | O95500 (CLDN14) | A | V | 94 | - | Disease: Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] |
7095 | O95500 (CLDN14) | G | R | 232 | rs786204841 | Disease: Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] |
7096 | O95521 (PRAMEF1) | L | M | 204 | rs1063767 | Benign |
7097 | O95521 (PRAMEF1) | R | H | 213 | rs1063769 | Benign |
7098 | O95521 (PRAMEF1) | P | S | 218 | rs1769774 | Benign |
7099 | O95521 (PRAMEF1) | E | Q | 252 | rs1063776 | Benign |
7100 | O95521 (PRAMEF1) | Y | C | 302 | rs5003730 | Benign |
7101 | O95521 (PRAMEF1) | G | A | 372 | rs1063795 | Benign |
7102 | O95521 (PRAMEF1) | R | S | 386 | rs1052908 | Benign |
7103 | O95522 (PRAMEF12) | T | K | 53 | rs17346571 | Benign |
7104 | O95522 (PRAMEF12) | T | M | 157 | rs1812242 | Benign |
7105 | O95528 (SLC2A10) | S | R | 81 | rs80358230 | Disease: Arterial tortuosity syndrome (ATORS) [MIM:208050] |
7106 | O95528 (SLC2A10) | A | S | 106 | rs6094438 | Benign |
7107 | O95528 (SLC2A10) | R | W | 132 | rs121908173 | Disease: Arterial tortuosity syndrome (ATORS) [MIM:208050] |
7108 | O95528 (SLC2A10) | G | V | 142 | rs864309480 | Disease: Arterial tortuosity syndrome (ATORS) [MIM:208050] |
7109 | O95528 (SLC2A10) | A | T | 206 | rs2235491 | Benign |
7110 | O95528 (SLC2A10) | R | H | 225 | rs34295241 | Benign |
7111 | O95528 (SLC2A10) | R | Q | 231 | rs771028960 | Disease: Arterial tortuosity syndrome (ATORS) [MIM:208050] |
7112 | O95528 (SLC2A10) | G | E | 246 | rs564317065 | Disease: Arterial tortuosity syndrome (ATORS) [MIM:208050] |
7113 | O95528 (SLC2A10) | G | W | 426 | rs121908172 | Disease: Arterial tortuosity syndrome (ATORS) [MIM:208050] |
7114 | O95528 (SLC2A10) | E | K | 437 | rs763220502 | Disease: Arterial tortuosity syndrome (ATORS) [MIM:208050] |
7115 | O95528 (SLC2A10) | G | E | 445 | rs753723351 | Disease: Arterial tortuosity syndrome (ATORS) [MIM:208050] |
7116 | O95528 (SLC2A10) | T | A | 518 | rs6018008 | Benign |
7117 | O95528 (SLC2A10) | I | V | 537 | rs7348121 | Benign |
7118 | O95544 (NADK) | N | K | 262 | rs4751 | Benign |
7119 | O95551 (TDP2) | S | G | 166 | rs35977478 | Benign |
7120 | O95551 (TDP2) | Q | E | 249 | rs2294689 | Benign |
7121 | O95551 (TDP2) | R | Q | 268 | rs17249952 | Benign |
7122 | O95551 (TDP2) | I | V | 307 | rs77273535 | Benign |
7123 | O95561 (C1orf105) | M | V | 97 | rs16844498 | Benign |
7124 | O95561 (C1orf105) | S | N | 137 | rs1129942 | Benign |
7125 | O95567 (C22orf31) | C | R | 46 | rs9625679 | Benign |
7126 | O95567 (C22orf31) | T | R | 210 | rs714136 | Benign |
7127 | O95568 (METTL18) | E | D | 10 | rs10489177 | Benign |
7128 | O95568 (METTL18) | F | L | 309 | rs34396097 | Benign |
7129 | O95568 (METTL18) | R | H | 318 | rs35984232 | Benign |
7130 | O95568 (METTL18) | A | V | 325 | rs16862686 | Benign |
7131 | O95568 (METTL18) | K | M | 360 | rs13375701 | Benign |
7132 | O95571 (ETHE1) | Y | C | 38 | rs1555765564 | Disease: Ethylmalonic encephalopat hy (EE) [MIM:602473] |
7133 | O95571 (ETHE1) | L | P | 55 | rs182983506 | Disease: Ethylmalonic encephalopat hy (EE) [MIM:602473] |
7134 | O95571 (ETHE1) | T | A | 136 | rs1284200516 | Disease: Ethylmalonic encephalopat hy (EE) [MIM:602473] |
7135 | O95571 (ETHE1) | T | I | 152 | rs1317633085 | Disease: Ethylmalonic encephalopat hy (EE) [MIM:602473] |
7136 | O95571 (ETHE1) | R | Q | 163 | rs745656120 | Disease: Ethylmalonic encephalopat hy (EE) [MIM:602473] |
7137 | O95571 (ETHE1) | R | W | 163 | rs28940289 | Disease: Ethylmalonic encephalopat hy (EE) [MIM:602473] |
7138 | O95571 (ETHE1) | T | K | 164 | rs1268640442 | Disease: Ethylmalonic encephalopat hy (EE) [MIM:602473] |
7139 | O95571 (ETHE1) | L | R | 185 | rs387906987 | Disease: Ethylmalonic encephalopat hy (EE) [MIM:602473] |
7140 | O95571 (ETHE1) | D | N | 196 | rs763799125 | Disease: Ethylmalonic encephalopat hy (EE) [MIM:602473] |
7141 | O95573 (ACSL3) | F | S | 551 | rs1046032 | Benign |
7142 | O95602 (POLR1A) | P | A | 150 | rs4832242 | Benign |
7143 | O95602 (POLR1A) | Q | E | 349 | rs17026866 | Benign |
7144 | O95602 (POLR1A) | K | E | 364 | rs35239368 | Benign |
7145 | O95602 (POLR1A) | S | N | 396 | rs35443467 | Benign |
7146 | O95602 (POLR1A) | E | Q | 593 | rs794729674 | Disease: Acrofacial dysostosis, Cincinnati type (AFDCIN) [MIM:616462] |
7147 | O95602 (POLR1A) | I | V | 815 | rs34302587 | Benign |
7148 | O95602 (POLR1A) | A | T | 1141 | rs34892520 | Benign |
7149 | O95602 (POLR1A) | V | F | 1299 | - | Disease: Acrofacial dysostosis, Cincinnati type (AFDCIN) [MIM:616462] |
7150 | O95602 (POLR1A) | I | M | 1608 | rs35093541 | Benign |
7151 | O95613 (PCNT) | T | I | 539 | rs2249060 | Benign |
7152 | O95613 (PCNT) | G | E | 704 | rs2839223 | Benign |
7153 | O95613 (PCNT) | T | A | 879 | rs2839227 | Benign |
7154 | O95613 (PCNT) | V | A | 1038 | rs6518289 | Benign |
7155 | O95613 (PCNT) | R | C | 1163 | rs7279204 | Benign |
7156 | O95613 (PCNT) | A | T | 1194 | rs35044802 | Benign |
7157 | O95613 (PCNT) | G | R | 1452 | rs143796569 | Benign |
7158 | O95613 (PCNT) | I | V | 1639 | rs6518291 | Benign |
7159 | O95613 (PCNT) | N | S | 1841 | rs35940413 | Benign |
7160 | O95613 (PCNT) | R | H | 1953 | rs34268261 | Benign |
7161 | O95613 (PCNT) | R | Q | 1960 | rs34813667 | Benign |
7162 | O95613 (PCNT) | L | P | 2097 | rs2839245 | Benign |
7163 | O95613 (PCNT) | H | P | 2125 | rs35978208 | Benign |
7164 | O95613 (PCNT) | M | R | 2188 | rs1044998 | Benign |
7165 | O95613 (PCNT) | S | P | 2191 | rs34151633 | Benign |
7166 | O95613 (PCNT) | W | R | 2239 | rs35346764 | Benign |
7167 | O95613 (PCNT) | P | L | 2274 | rs2070425 | Benign |
7168 | O95613 (PCNT) | P | R | 2329 | rs35848602 | Benign |
7169 | O95613 (PCNT) | Q | R | 2361 | rs7277175 | Benign |
7170 | O95613 (PCNT) | R | Q | 2424 | rs371893416 | Benign |
7171 | O95613 (PCNT) | A | T | 2549 | rs2839256 | Benign |
7172 | O95613 (PCNT) | R | Q | 2625 | rs8131693 | Benign |
7173 | O95613 (PCNT) | Q | H | 2659 | rs2070426 | Benign |
7174 | O95613 (PCNT) | R | H | 2753 | rs743346 | Benign |
7175 | O95613 (PCNT) | Q | R | 2792 | rs2073376 | Benign |
7176 | O95613 (PCNT) | A | T | 2903 | rs35147998 | Benign |
7177 | O95613 (PCNT) | L | P | 2975 | rs35881595 | Benign |
7178 | O95613 (PCNT) | S | G | 3091 | rs4818842 | Benign |
7179 | O95613 (PCNT) | R | S | 3245 | rs2073380 | Benign |
7180 | O95620 (DUS4L) | T | A | 178 | rs6956789 | Benign |
7181 | O95620 (DUS4L) | R | Q | 230 | rs6957510 | Benign |
7182 | O95622 (ADCY5) | R | W | 418 | rs864309483 | Disease: Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703] |
7183 | O95622 (ADCY5) | A | T | 726 | rs796065306 | Disease: Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703] |
7184 | O95625 (ZBTB11) | G | S | 44 | rs3749323 | Benign |
7185 | O95625 (ZBTB11) | T | N | 350 | rs33957144 | Benign |
7186 | O95625 (ZBTB11) | H | Y | 729 | - | Disease: Intellectual developmenta l disorder, autosomal recessive 69 (MRT69) [MIM:618383] |
7187 | O95625 (ZBTB11) | H | Q | 880 | - | Disease: Intellectual developmenta l disorder, autosomal recessive 69 (MRT69) [MIM:618383] |
7188 | O95626 (ANP32D) | L | F | 46 | rs7956679 | Benign |
7189 | O95628 (CNOT4) | A | G | 7 | rs17480616 | Benign |
7190 | O95630 (STAMBP) | R | P | 14 | - | Disease: Microcephaly -capillary malformation syndrome (MICCAP) [MIM:614261] |
7191 | O95630 (STAMBP) | R | C | 38 | rs143739249 | Disease: Microcephaly -capillary malformation syndrome (MICCAP) [MIM:614261] |
7192 | O95630 (STAMBP) | E | G | 42 | rs397509387 | Disease: Microcephaly -capillary malformation syndrome (MICCAP) [MIM:614261] |
7193 | O95630 (STAMBP) | Y | C | 63 | rs781694797 | Disease: Microcephaly -capillary malformation syndrome (MICCAP) [MIM:614261] |
7194 | O95630 (STAMBP) | F | Y | 100 | rs397514697 | Disease: Microcephaly -capillary malformation syndrome (MICCAP) [MIM:614261] |
7195 | O95630 (STAMBP) | T | I | 313 | rs202100019 | Disease: Microcephaly -capillary malformation syndrome (MICCAP) [MIM:614261] |
7196 | O95631 (NTN1) | R | H | 351 | rs531668666 | Benign |
7197 | O95631 (NTN1) | C | R | 601 | - | Disease: Mirror movements 4 (MRMV4) [MIM:618264] |
7198 | O95631 (NTN1) | C | S | 601 | - | Disease: Mirror movements 4 (MRMV4) [MIM:618264] |
7199 | O95644 (NFATC1) | P | T | 68 | rs1051978 | Benign |
7200 | O95644 (NFATC1) | C | G | 751 | rs754093 | Benign |
7201 | O95665 (NTSR2) | A | V | 54 | rs6432225 | Benign |
7202 | O95665 (NTSR2) | R | K | 282 | rs34764121 | Benign |
7203 | O95671 (ASMTL) | V | M | 458 | rs4503285 | Benign |
7204 | O95671 (ASMTL) | R | K | 541 | rs1127297 | Benign |
7205 | O95672 (ECEL1) | H | Q | 10 | rs2741281 | Benign |
7206 | O95672 (ECEL1) | H | Y | 328 | rs1529874 | Benign |
7207 | O95672 (ECEL1) | R | C | 404 | rs532757890 | Disease: Arthrogrypos is, distal, 5D (DA5D) [MIM:615065] |
7208 | O95672 (ECEL1) | R | S | 418 | rs587776919 | Disease: Arthrogrypos is, distal, 5D (DA5D) [MIM:615065] |
7209 | O95672 (ECEL1) | G | S | 607 | - | Disease: Arthrogrypos is, distal, 5D (DA5D) [MIM:615065] |
7210 | O95672 (ECEL1) | C | R | 760 | rs587777129 | Disease: Arthrogrypos is, distal, 5D (DA5D) [MIM:615065] |
7211 | O95677 (EYA4) | G | R | 171 | rs1471362858 | Disease: Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316] |
7212 | O95677 (EYA4) | G | S | 277 | rs9493627 | Benign |
7213 | O95677 (EYA4) | T | R | 548 | - | Disease: Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316] |
7214 | O95678 (KRT75) | R | C | 39 | rs2232384 | Benign |
7215 | O95678 (KRT75) | R | G | 91 | rs298109 | Benign |
7216 | O95678 (KRT75) | P | A | 117 | rs2232386 | Benign |
7217 | O95678 (KRT75) | A | T | 161 | rs2232387 | Benign |
7218 | O95678 (KRT75) | R | Q | 209 | rs2232390 | Benign |
7219 | O95678 (KRT75) | E | G | 242 | rs2232393 | Benign |
7220 | O95678 (KRT75) | E | K | 337 | rs2232398 | Disease: Loose anagen hair syndrome (LAHS) [MIM:600628] |
7221 | O95678 (KRT75) | I | V | 367 | rs2232402 | Benign |
7222 | O95678 (KRT75) | M | T | 427 | rs2232405 | Benign |
7223 | O95678 (KRT75) | R | C | 432 | rs2232406 | Benign |
7224 | O95678 (KRT75) | S | R | 485 | rs298104 | Benign |
7225 | O95684 (CEP43) | A | G | 190 | rs34617108 | Benign |
7226 | O95684 (CEP43) | K | N | 271 | rs17856382 | Benign |
7227 | O95696 (BRD1) | R | G | 38 | rs11549978 | Benign |
7228 | O95696 (BRD1) | V | L | 230 | - | Benign |
7229 | O95696 (BRD1) | A | S | 321 | rs12157714 | Benign |
7230 | O95696 (BRD1) | A | T | 730 | rs35331092 | Benign |
7231 | O95704 (APBB3) | G | R | 165 | rs7715021 | Benign |
7232 | O95704 (APBB3) | C | R | 231 | rs250430 | Benign |
7233 | O95711 (LY86) | S | P | 93 | rs5743649 | Benign |
7234 | O95711 (LY86) | Y | C | 121 | rs5743651 | Benign |
7235 | O95711 (LY86) | M | V | 160 | rs1802323 | Benign |
7236 | O95714 (HERC2) | P | L | 594 | rs397518474 | Disease: Mental retardation, autosomal recessive 38 (MRT38) [MIM:615516] |
7237 | O95716 (RAB3D) | V | I | 64 | rs3969860 | Benign |
7238 | O95718 (ESRRB) | A | V | 110 | rs121909110 | Disease: Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] |
7239 | O95718 (ESRRB) | L | P | 320 | - | Disease: Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] |
7240 | O95718 (ESRRB) | V | L | 342 | rs121909111 | Disease: Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] |
7241 | O95718 (ESRRB) | L | P | 347 | - | Disease: Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] |
7242 | O95718 (ESRRB) | P | S | 386 | rs61742642 | Benign |
7243 | O95727 (CRTAM) | E | A | 16 | rs35411582 | Benign |
7244 | O95727 (CRTAM) | A | D | 78 | rs34397316 | Benign |
7245 | O95727 (CRTAM) | D | G | 173 | rs35136295 | Benign |
7246 | O95727 (CRTAM) | K | R | 321 | rs2272094 | Benign |
7247 | O95727 (CRTAM) | A | G | 368 | rs1916036 | Benign |
7248 | O95747 (OXSR1) | T | I | 304 | rs6599079 | Benign |
7249 | O95747 (OXSR1) | S | T | 425 | rs35295772 | Benign |
7250 | O95755 (RAB36) | P | L | 50 | rs9624036 | Benign |
7251 | O95755 (RAB36) | N | D | 308 | rs5759612 | Benign |
7252 | O95755 (RAB36) | E | K | 320 | rs9624038 | Benign |
7253 | O95757 (HSPA4L) | L | S | 211 | rs1380154 | Benign |
7254 | O95757 (HSPA4L) | N | T | 216 | rs12507229 | Benign |
7255 | O95757 (HSPA4L) | I | T | 601 | rs35518193 | Benign |
7256 | O95759 (TBC1D8) | T | A | 317 | rs2289953 | Benign |
7257 | O95759 (TBC1D8) | G | R | 954 | rs1062062 | Benign |
7258 | O95759 (TBC1D8) | F | L | 1073 | rs1057580 | Benign |
7259 | O95759 (TBC1D8) | R | G | 1079 | rs746924 | Benign |
7260 | O95759 (TBC1D8) | M | V | 1108 | rs3739011 | Benign |
7261 | O95760 (IL33) | I | M | 263 | rs16924241 | Benign |
7262 | O95780 (ZNF682) | V | M | 65 | rs7255165 | Benign |
7263 | O95780 (ZNF682) | T | I | 209 | rs2075090 | Benign |
7264 | O95780 (ZNF682) | V | I | 450 | rs17679334 | Benign |
7265 | O95782 (AP2A1) | P | L | 270 | rs17851121 | Benign |
7266 | O95786 (DDX58) | R | C | 7 | rs10813831 | Benign |
7267 | O95786 (DDX58) | C | F | 268 | rs786204848 | Disease: Singleton- Merten syndrome 2 (SGMRT2) [MIM:616298] |
7268 | O95786 (DDX58) | E | A | 373 | rs786204847 | Disease: Singleton- Merten syndrome 2 (SGMRT2) [MIM:616298] |
7269 | O95786 (DDX58) | D | E | 580 | rs17217280 | Benign |
7270 | O95789 (ZMYM6) | K | R | 660 | rs10158256 | Benign |
7271 | O95789 (ZMYM6) | E | K | 1233 | rs16837147 | Benign |
7272 | O95800 (GPR75) | A | T | 116 | rs34000641 | Benign |
7273 | O95800 (GPR75) | C | G | 160 | rs35349235 | Benign |
7274 | O95800 (GPR75) | L | V | 433 | rs3731969 | Benign |
7275 | O95801 (TTC4) | S | T | 47 | rs1147990 | Benign |
7276 | O95807 (TMEM50A) | A | V | 58 | rs3093647 | Benign |
7277 | O95807 (TMEM50A) | F | L | 141 | - | Benign |
7278 | O95810 (CAVIN2) | E | D | 130 | rs35012125 | Benign |
7279 | O95813 (CER1) | R | W | 19 | rs10115703 | Benign |
7280 | O95813 (CER1) | A | G | 65 | rs3747532 | Benign |
7281 | O95813 (CER1) | V | I | 179 | rs7036635 | Benign |
7282 | O95817 (BAG3) | R | Q | 71 | rs35434411 | Benign |
7283 | O95817 (BAG3) | R | W | 71 | rs387906874 | Disease: Cardiomyopat hy, dilated 1HH (CMD1HH) [MIM:613881] |
7284 | O95817 (BAG3) | P | L | 77 | rs141355480 | Benign |
7285 | O95817 (BAG3) | I | F | 94 | rs145393807 | Benign |
7286 | O95817 (BAG3) | P | S | 115 | rs774241343 | Benign |
7287 | O95817 (BAG3) | C | R | 151 | rs2234962 | Benign |
7288 | O95817 (BAG3) | A | T | 155 | rs61756328 | Benign |
7289 | O95817 (BAG3) | P | L | 209 | rs121918312 | Disease: Myopathy, myofibrillar , 6 (MFM6) [MIM:612954] |
7290 | O95817 (BAG3) | R | W | 218 | rs397514506 | Disease: Cardiomyopat hy, dilated 1HH (CMD1HH) [MIM:613881] |
7291 | O95817 (BAG3) | R | W | 258 | rs117671123 | Benign |
7292 | O95817 (BAG3) | D | N | 300 | rs78439745 | Benign |
7293 | O95817 (BAG3) | P | S | 380 | rs144692954 | Benign |
7294 | O95817 (BAG3) | A | V | 405 | rs11199064 | Benign |
7295 | O95817 (BAG3) | P | L | 407 | rs3858340 | Benign |
7296 | O95817 (BAG3) | E | K | 455 | rs397516881 | Disease: Cardiomyopat hy, dilated 1HH (CMD1HH) [MIM:613881] |
7297 | O95817 (BAG3) | L | P | 462 | rs397514507 | Disease: Cardiomyopat hy, dilated 1HH (CMD1HH) [MIM:613881] |
7298 | O95817 (BAG3) | V | M | 468 | - | Disease: Cardiomyopat hy, dilated 1HH (CMD1HH) [MIM:613881] |
7299 | O95817 (BAG3) | R | H | 477 | rs387906876 | Disease: Cardiomyopat hy, dilated 1HH (CMD1HH) [MIM:613881] |
7300 | O95817 (BAG3) | E | D | 553 | rs763530097 | Benign |
7301 | O95819 (MAP4K4) | S | T | 712 | - | Benign |
7302 | O95825 (CRYZL1) | A | T | 39 | rs13050238 | Benign |
7303 | O95831 (AIFM1) | V | L | 243 | - | Disease: - |
7304 | O95831 (AIFM1) | T | A | 260 | rs863225432 | Disease: Deafness, X-linked, 5 (DFNX5) [MIM:300614] |
7305 | O95831 (AIFM1) | G | S | 262 | - | Disease: - |
7306 | O95831 (AIFM1) | G | E | 308 | - | Disease: Combined oxidative phosphorylat ion deficiency 6 (COXPD6) [MIM:300816] |
7307 | O95831 (AIFM1) | G | E | 338 | - | Disease: Combined oxidative phosphorylat ion deficiency 6 (COXPD6) [MIM:300816] |
7308 | O95831 (AIFM1) | R | Q | 422 | rs724160021 | Disease: Deafness, X-linked, 5 (DFNX5) [MIM:300614] |
7309 | O95831 (AIFM1) | R | W | 422 | rs724160020 | Disease: Deafness, X-linked, 5 (DFNX5) [MIM:300614] |
7310 | O95831 (AIFM1) | R | Q | 451 | rs863225431 | Disease: Deafness, X-linked, 5 (DFNX5) [MIM:300614] |
7311 | O95831 (AIFM1) | E | V | 493 | rs281864468 | Disease: Charcot- Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia (CMTX4) [MIM:310490] |
7312 | O95833 (CLIC3) | P | H | 38 | rs2292923 | Benign |
7313 | O95834 (EML2) | M | V | 33 | rs12151009 | Benign |
7314 | O95834 (EML2) | L | F | 187 | rs7252175 | Benign |
7315 | O95834 (EML2) | E | D | 235 | rs1545040 | Benign |
7316 | O95834 (EML2) | R | H | 357 | rs3816045 | Benign |
7317 | O95835 (LATS1) | R | W | 96 | rs55945045 | Benign |
7318 | O95835 (LATS1) | S | G | 204 | rs34793526 | Benign |
7319 | O95835 (LATS1) | P | Q | 237 | rs56149740 | Benign |
7320 | O95835 (LATS1) | R | W | 370 | rs56348064 | Benign |
7321 | O95835 (LATS1) | P | S | 531 | rs55874734 | Benign |
7322 | O95835 (LATS1) | F | L | 641 | rs35163691 | Benign |
7323 | O95835 (LATS1) | G | S | 1000 | rs56412005 | Benign |
7324 | O95838 (GLP2R) | H | L | 22 | rs8072568 | Benign |
7325 | O95838 (GLP2R) | D | N | 470 | rs17681684 | Benign |
7326 | O95838 (GLP2R) | R | H | 523 | rs16958918 | Benign |
7327 | O95843 (GUCA1C) | V | I | 72 | rs2715687 | Benign |
7328 | O95843 (GUCA1C) | M | V | 85 | rs6804162 | Benign |
7329 | O95843 (GUCA1C) | A | V | 119 | rs11917716 | Benign |
7330 | O95843 (GUCA1C) | M | V | 159 | rs16854916 | Benign |
7331 | O95847 (SLC25A27) | A | V | 145 | rs17853162 | Benign |
7332 | O95847 (SLC25A27) | I | T | 197 | rs35884480 | Benign |
7333 | O95859 (TSPAN12) | T | M | 49 | rs538591733 | Disease: Vitreoretino pathy, exudative 5 (EVR5) [MIM:613310] |
7334 | O95859 (TSPAN12) | L | S | 57 | rs17852934 | Benign |
7335 | O95859 (TSPAN12) | L | H | 101 | rs267607152 | Disease: Vitreoretino pathy, exudative 5 (EVR5) [MIM:613310] |
7336 | O95859 (TSPAN12) | Y | C | 138 | rs587777283 | Disease: Vitreoretino pathy, exudative 5 (EVR5) [MIM:613310] |
7337 | O95859 (TSPAN12) | G | R | 188 | rs267607151 | Disease: Vitreoretino pathy, exudative 5 (EVR5) [MIM:613310] |
7338 | O95859 (TSPAN12) | M | R | 210 | - | Disease: Vitreoretino pathy, exudative 5 (EVR5) [MIM:613310] |
7339 | O95859 (TSPAN12) | L | P | 223 | - | Disease: Vitreoretino pathy, exudative 5 (EVR5) [MIM:613310] |
7340 | O95859 (TSPAN12) | A | P | 237 | rs267607154 | Disease: Vitreoretino pathy, exudative 5 (EVR5) [MIM:613310] |
7341 | O95863 (SNAI1) | A | V | 66 | rs34261470 | Benign |
7342 | O95863 (SNAI1) | V | A | 118 | rs4647958 | Benign |
7343 | O95866 (MPIG6B) | R | G | 175 | rs11575845 | Benign |
7344 | O95867 (LY6G6C) | L | M | 63 | rs13214568 | Benign |
7345 | O95868 (LY6G6D) | L | V | 9 | rs3749952 | Benign |
7346 | O95868 (LY6G6D) | S | T | 34 | rs9267550 | Benign |
7347 | O95872 (GPANK1) | R | L | 41 | rs3130618 | Benign |
7348 | O95872 (GPANK1) | A | V | 112 | rs35265780 | Benign |
7349 | O95872 (GPANK1) | S | A | 210 | rs34082689 | Benign |
7350 | O95872 (GPANK1) | A | V | 235 | rs2295666 | Benign |
7351 | O95873 (C6orf47) | G | R | 68 | rs3130617 | Benign |
7352 | O95873 (C6orf47) | K | N | 92 | rs2242655 | Benign |
7353 | O95876 (WDPCP) | D | N | 54 | rs200322968 | Disease: Congenital heart defects, hamartomas of tongue, and polysyndacty ly (CHDTHP) [MIM:217085] |
7354 | O95876 (WDPCP) | R | K | 55 | rs267606693 | Benign |
7355 | O95876 (WDPCP) | G | S | 268 | rs17617459 | Benign |
7356 | O95876 (WDPCP) | S | F | 708 | - | Benign |
7357 | O95886 (DLGAP3) | T | P | 763 | rs758215471 | Benign |
7358 | O95897 (OLFM2) | R | Q | 106 | rs2303100 | Benign |
7359 | O95897 (OLFM2) | T | M | 127 | rs11556087 | Benign |
7360 | O95900 (TRUB2) | P | L | 79 | rs2231630 | Benign |
7361 | O95900 (TRUB2) | V | L | 93 | rs2072394 | Benign |
7362 | O95900 (TRUB2) | T | S | 209 | rs2231637 | Benign |
7363 | O95905 (ECD) | R | Q | 45 | rs3812619 | Benign |
7364 | O95905 (ECD) | R | G | 281 | rs151023501 | Benign |
7365 | O95905 (ECD) | E | Q | 452 | rs3736518 | Benign |
7366 | O95905 (ECD) | N | S | 501 | rs36152134 | Benign |
7367 | O95905 (ECD) | D | G | 634 | rs2271904 | Benign |
7368 | O95907 (SLC16A8) | R | W | 235 | rs4289289 | Benign |
7369 | O95907 (SLC16A8) | V | A | 405 | rs2076371 | Benign |
7370 | O95918 (OR2H2) | L | F | 30 | rs3129034 | Benign |
7371 | O95918 (OR2H2) | L | I | 30 | rs3129034 | Benign |
7372 | O95918 (OR2H2) | L | S | 30 | - | Benign |
7373 | O95918 (OR2H2) | V | M | 38 | rs11966382 | Benign |
7374 | O95918 (OR2H2) | A | V | 48 | rs1233387 | Benign |
7375 | O95918 (OR2H2) | T | A | 220 | rs141430371 | Benign |
7376 | O95922 (TTLL1) | S | L | 168 | rs6003030 | Benign |
7377 | O95925 (EPPIN) | H | R | 92 | rs2231838 | Benign |
7378 | O95925 (EPPIN) | K | T | 128 | rs2231839 | Benign |
7379 | O95926 (SYF2) | A | V | 89 | rs35324907 | Benign |
7380 | O95932 (TGM6) | M | V | 58 | rs2076405 | Benign |
7381 | O95932 (TGM6) | R | C | 111 | rs372250159 | Disease: Spinocerebel lar ataxia 35 (SCA35) [MIM:613908] |
7382 | O95932 (TGM6) | D | G | 327 | rs387907098 | Disease: Spinocerebel lar ataxia 35 (SCA35) [MIM:613908] |
7383 | O95932 (TGM6) | T | N | 426 | - | Disease: Spinocerebel lar ataxia 35 (SCA35) [MIM:613908] |
7384 | O95932 (TGM6) | D | H | 510 | rs201964784 | Disease: Spinocerebel lar ataxia 35 (SCA35) [MIM:613908] |
7385 | O95932 (TGM6) | L | W | 517 | rs387907097 | Disease: Spinocerebel lar ataxia 35 (SCA35) [MIM:613908] |
7386 | O95935 (TBX18) | G | R | 48 | rs172562 | Benign |
7387 | O95935 (TBX18) | K | E | 163 | rs797045022 | Disease: Congenital anomalies of kidney and urinary tract 2 (CAKUT2) [MIM:143400] |
7388 | O95935 (TBX18) | A | T | 164 | - | Benign |
7389 | O95935 (TBX18) | H | Y | 524 | rs760905589 | Disease: Congenital anomalies of kidney and urinary tract 2 (CAKUT2) [MIM:143400] |
7390 | O95935 (TBX18) | P | S | 526 | - | Benign |
7391 | O95936 (EOMES) | A | G | 120 | rs1874198 | Benign |
7392 | O95944 (NCR2) | M | V | 75 | rs9471577 | Benign |
7393 | O95944 (NCR2) | S | P | 139 | rs2236369 | Benign |
7394 | O95944 (NCR2) | I | K | 218 | rs2273961 | Benign |
7395 | O95944 (NCR2) | M | V | 223 | rs2273962 | Benign |
7396 | O95947 (TBX6) | G | S | 162 | rs56098093 | Benign |
7397 | O95947 (TBX6) | S | F | 178 | rs12925839 | Benign |
7398 | O95947 (TBX6) | P | S | 179 | rs12925838 | Benign |
7399 | O95954 (FTCD) | R | C | 135 | rs28941768 | Disease: Glutamate formiminotra nsferase deficiency (FIGLU-URIA) [MIM:229100] |
7400 | O95954 (FTCD) | R | P | 299 | rs119469015 | Disease: Glutamate formiminotra nsferase deficiency (FIGLU-URIA) [MIM:229100] |
7401 | O95954 (FTCD) | A | E | 438 | - | Benign |
7402 | O95965 (ITGBL1) | A | S | 154 | rs1140605 | Benign |
7403 | O95967 (EFEMP2) | E | K | 57 | rs119489101 | Disease: Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] |
7404 | O95967 (EFEMP2) | I | V | 259 | rs601314 | Benign |
7405 | O95967 (EFEMP2) | C | Y | 267 | rs193302866 | Disease: Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] |
7406 | O95967 (EFEMP2) | R | C | 279 | rs119489102 | Disease: Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] |
7407 | O95969 (SCGB1D2) | P | L | 53 | rs2232950 | Benign |
7408 | O95969 (SCGB1D2) | V | A | 80 | rs2276427 | Benign |
7409 | O95970 (LGI1) | L | R | 26 | - | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7410 | O95970 (LGI1) | C | G | 42 | rs797044996 | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7411 | O95970 (LGI1) | C | R | 42 | rs797044996 | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7412 | O95970 (LGI1) | C | R | 46 | rs104894166 | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7413 | O95970 (LGI1) | A | D | 110 | - | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7414 | O95970 (LGI1) | I | K | 122 | rs119488100 | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7415 | O95970 (LGI1) | E | K | 123 | - | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7416 | O95970 (LGI1) | R | W | 136 | rs119488099 | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7417 | O95970 (LGI1) | S | R | 145 | - | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7418 | O95970 (LGI1) | L | P | 154 | - | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7419 | O95970 (LGI1) | C | R | 200 | - | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7420 | O95970 (LGI1) | L | P | 232 | rs104894167 | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7421 | O95970 (LGI1) | I | T | 298 | - | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7422 | O95970 (LGI1) | F | C | 318 | rs28939075 | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7423 | O95970 (LGI1) | E | A | 383 | rs28937874 | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7424 | O95970 (LGI1) | V | E | 432 | - | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7425 | O95970 (LGI1) | S | L | 473 | rs797044999 | Disease: Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512] |
7426 | O95971 (CD160) | I | V | 91 | rs2231373 | Benign |
7427 | O95972 (BMP15) | S | R | 5 | rs113099187 | Benign |
7428 | O95972 (BMP15) | R | Q | 61 | - | Disease: Premature ovarian failure 4 (POF4) [MIM:300510] |
7429 | O95972 (BMP15) | R | W | 61 | rs144392417 | Disease: Premature ovarian failure 4 (POF4) [MIM:300510] |
7430 | O95972 (BMP15) | R | W | 68 | rs104894763 | Disease: Premature ovarian failure 4 (POF4) [MIM:300510] |
7431 | O95972 (BMP15) | R | C | 76 | rs104894766 | Disease: Premature ovarian failure 4 (POF4) [MIM:300510] |
7432 | O95972 (BMP15) | R | H | 76 | - | Disease: Premature ovarian failure 4 (POF4) [MIM:300510] |
7433 | O95972 (BMP15) | N | S | 103 | rs41308602 | Benign |
7434 | O95972 (BMP15) | R | H | 138 | rs371418883 | Disease: Premature ovarian failure 4 (POF4) [MIM:300510] |
7435 | O95972 (BMP15) | L | P | 148 | rs114823607 | Disease: Premature ovarian failure 4 (POF4) [MIM:300510] |
7436 | O95972 (BMP15) | N | K | 196 | - | Disease: Premature ovarian failure 4 (POF4) [MIM:300510] |
7437 | O95972 (BMP15) | H | Y | 200 | rs202165852 | Benign |
7438 | O95972 (BMP15) | R | H | 206 | rs782516193 | Disease: Premature ovarian failure 4 (POF4) [MIM:300510] |
7439 | O95972 (BMP15) | W | R | 221 | rs375284458 | Disease: Premature ovarian failure 4 (POF4) [MIM:300510] |
7440 | O95972 (BMP15) | Y | C | 235 | rs104894765 | Disease: Ovarian dysgenesis 2 (ODG2) [MIM:300510] |
7441 | O95972 (BMP15) | I | V | 243 | rs782379521 | Disease: Premature ovarian failure 4 (POF4) [MIM:300510] |
7442 | O95972 (BMP15) | R | C | 329 | rs782375794 | Disease: Premature ovarian failure 4 (POF4) [MIM:300510] |
7443 | O95976 (IGSF6) | Q | R | 74 | rs17851574 | Benign |
7444 | O95976 (IGSF6) | F | S | 173 | rs2290612 | Benign |
7445 | O95976 (IGSF6) | N | K | 186 | rs751849987 | Benign |
7446 | O95977 (S1PR4) | R | L | 365 | rs3746072 | Benign |
7447 | O95980 (RECK) | V | I | 275 | rs16932912 | Benign |
7448 | O95985 (TOP3B) | D | N | 365 | rs9610728 | Benign |
7449 | O95988 (TCL1B) | G | R | 93 | rs1064017 | Benign |
7450 | O95990 (FAM107A) | A | S | 89 | rs1043942 | Benign |
7451 | O95990 (FAM107A) | E | Q | 141 | rs11539086 | Benign |
7452 | O95992 (CH25H) | L | P | 133 | rs17117295 | Benign |
7453 | O95995 (GAS8) | E | K | 199 | rs868044 | Benign |
7454 | O95995 (GAS8) | R | Q | 259 | rs17178299 | Benign |
7455 | O95995 (GAS8) | A | V | 391 | rs147993982 | Disease: Ciliary dyskinesia, primary, 33 (CILD33) [MIM:616726] |
7456 | O95996 (APC2) | H | N | 1921 | - | Benign |
7457 | O95996 (APC2) | S | A | 2241 | rs265277 | Benign |
7458 | O95998 (IL18BP) | R | H | 91 | rs5743672 | Benign |
7459 | O95998 (IL18BP) | R | Q | 121 | rs5743673 | Benign |
7460 | O95999 (BCL10) | K | Q | 45 | - | Benign |
7461 | O95999 (BCL10) | R | Q | 58 | - | Benign |
7462 | O95999 (BCL10) | N | S | 93 | - | Benign |
7463 | O95999 (BCL10) | M | V | 153 | - | Benign |
7464 | O95999 (BCL10) | T | M | 162 | rs200837308 | Benign |
7465 | O96001 (PPP1R17) | L | R | 10 | rs36047130 | Benign |
7466 | O96001 (PPP1R17) | L | V | 12 | rs3735422 | Benign |
7467 | O96002 (CXorf1) | S | A | 36 | rs3752359 | Benign |
7468 | O96005 (CLPTM1) | Y | C | 478 | rs140564801 | Benign |
7469 | O96007 (MOCS2) | T | A | 50 | rs2233213 | Benign |
7470 | O96007 (MOCS2) | T | A | 77 | rs2233215 | Benign |
7471 | O96007 (MOCS2) | H | Y | 123 | rs2233218 | Benign |
7472 | O96007 (MOCS2) | E | K | 168 | rs121908605 | Disease: Molybdenum cofactor deficiency, complementat ion group B (MOCODB) [MIM:252160] |
7473 | O96007 (MOCS2) | N | S | 187 | rs2233221 | Benign |
7474 | O96009 (NAPSA) | I | T | 40 | rs676314 | Benign |
7475 | O96009 (NAPSA) | A | T | 310 | rs11670727 | Benign |
7476 | O96013 (PAK4) | R | Q | 135 | rs56099436 | Benign |
7477 | O96013 (PAK4) | A | T | 139 | rs35655056 | Benign |
7478 | O96017 (CHEK2) | E | K | 64 | rs141568342 | Disease: Prostate cancer (PC) [MIM:176807] |
7479 | O96017 (CHEK2) | R | G | 117 | rs28909982 | Benign |
7480 | O96017 (CHEK2) | R | Q | 137 | rs368570187 | Benign |
7481 | O96017 (CHEK2) | R | P | 145 | rs587781667 | Disease: Prostate cancer (PC) [MIM:176807] |
7482 | O96017 (CHEK2) | R | W | 145 | rs137853007 | Disease: Colon cancer |
7483 | O96017 (CHEK2) | I | T | 157 | rs17879961 | Benign |
7484 | O96017 (CHEK2) | G | R | 167 | rs72552322 | Disease: Prostate cancer (PC) [MIM:176807] |
7485 | O96017 (CHEK2) | R | C | 180 | rs77130927 | Disease: Prostate cancer (PC) [MIM:176807] |
7486 | O96017 (CHEK2) | R | H | 180 | rs137853009 | Disease: Prostate cancer (PC) [MIM:176807] |
7487 | O96017 (CHEK2) | R | C | 181 | rs137853010 | Disease: Prostate cancer (PC) [MIM:176807] |
7488 | O96017 (CHEK2) | R | H | 181 | rs121908701 | Disease: Prostate cancer (PC) [MIM:176807] |
7489 | O96017 (CHEK2) | E | K | 239 | rs121908702 | Disease: Prostate cancer (PC) [MIM:176807] |
7490 | O96017 (CHEK2) | I | F | 251 | rs587780189 | Disease: Prostate cancer (PC) [MIM:176807] |
7491 | O96017 (CHEK2) | R | H | 318 | rs143611747 | Disease: Prostate cancer (PC) [MIM:176807] |
7492 | O96017 (CHEK2) | T | P | 323 | rs750984976 | Disease: Prostate cancer (PC) [MIM:176807] |
7493 | O96017 (CHEK2) | Y | C | 327 | rs587780194 | Disease: Prostate cancer (PC) [MIM:176807] |
7494 | O96017 (CHEK2) | D | N | 347 | rs28909980 | Benign |
7495 | O96017 (CHEK2) | H | Y | 371 | rs531398630 | Benign |
7496 | O96017 (CHEK2) | Y | C | 390 | rs200928781 | Disease: Breast cancer (BC) [MIM:114480] |
7497 | O96017 (CHEK2) | R | H | 406 | rs200649225 | Benign |
7498 | O96017 (CHEK2) | S | F | 428 | rs137853011 | Benign |
7499 | O96017 (CHEK2) | L | M | 436 | rs17882922 | Benign |
7500 | O96017 (CHEK2) | N | K | 446 | rs17880867 | Benign |
7501 | O96017 (CHEK2) | F | I | 447 | rs17881473 | Benign |
7502 | O96017 (CHEK2) | I | S | 448 | rs17886163 | Benign |
7503 | O96017 (CHEK2) | T | K | 476 | - | Disease: Prostate cancer (PC) [MIM:176807] |
7504 | O96017 (CHEK2) | S | C | 500 | rs28909981 | Benign |
7505 | O96017 (CHEK2) | E | K | 501 | rs17883172 | Benign |
7506 | O96017 (CHEK2) | L | V | 512 | rs17882942 | Benign |
7507 | O96018 (APBA3) | W | L | 154 | rs35932323 | Benign |
7508 | O96018 (APBA3) | K | T | 276 | rs3746119 | Benign |
7509 | O96018 (APBA3) | C | R | 376 | rs8102086 | Benign |
7510 | O96018 (APBA3) | I | F | 527 | rs1045236 | Benign |
7511 | O96019 (ACTL6A) | R | W | 377 | rs868064163 | Disease: - |
7512 | O96020 (CCNE2) | N | S | 387 | rs28399585 | Benign |
7513 | O96033 (MOCS2) | V | F | 7 | rs121908608 | Disease: Molybdenum cofactor deficiency, complementat ion group B (MOCODB) [MIM:252160] |
7514 | O96033 (MOCS2) | V | A | 51 | rs2233210 | Benign |
7515 | O97980 (HMHB1) | H | Y | 16 | rs161557 | Benign |
7516 | P00156 (MT-CYB) | T | I | 7 | rs193302980 | Benign |
7517 | P00156 (MT-CYB) | N | S | 8 | rs28357679 | Benign |
7518 | P00156 (MT-CYB) | F | L | 18 | rs28357681 | Benign |
7519 | P00156 (MT-CYB) | G | S | 34 | rs207459998 | Benign |
7520 | P00156 (MT-CYB) | S | P | 35 | rs207460004 | Benign |
7521 | P00156 (MT-CYB) | A | T | 39 | rs2853505 | Benign |
7522 | P00156 (MT-CYB) | A | V | 39 | - | Benign |
7523 | P00156 (MT-CYB) | I | T | 78 | rs200786872 | Benign |
7524 | P00156 (MT-CYB) | I | V | 78 | rs199997767 | Benign |
7525 | P00156 (MT-CYB) | A | P | 87 | - | Benign |
7526 | P00156 (MT-CYB) | A | T | 122 | rs28357685 | Benign |
7527 | P00156 (MT-CYB) | T | A | 123 | - | Benign |
7528 | P00156 (MT-CYB) | S | P | 151 | rs207460001 | Benign |
7529 | P00156 (MT-CYB) | I | T | 153 | rs28357687 | Benign |
7530 | P00156 (MT-CYB) | I | V | 164 | rs201250154 | Benign |
7531 | P00156 (MT-CYB) | D | N | 171 | rs41518645 | Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000] |
7532 | P00156 (MT-CYB) | A | T | 191 | rs2853507 | Benign |
7533 | P00156 (MT-CYB) | T | A | 194 | rs2853508 | Benign |
7534 | P00156 (MT-CYB) | A | T | 229 | rs193302993 | Benign |
7535 | P00156 (MT-CYB) | L | I | 236 | rs193302994 | Benign |
7536 | P00156 (MT-CYB) | G | S | 251 | rs199951903 | Benign |
7537 | P00156 (MT-CYB) | G | D | 251 | rs207460003 | Disease: Cardiomyopat hy, infantile histiocytoid (CMIH) [MIM:500000] |
7538 | P00156 (MT-CYB) | N | D | 260 | - | Benign |
7539 | P00156 (MT-CYB) | Y | C | 278 | rs207460002 | Benign |
7540 | P00156 (MT-CYB) | G | D | 290 | rs207459997 | Benign |
7541 | P00156 (MT-CYB) | I | T | 306 | rs369851331 | Benign |
7542 | P00156 (MT-CYB) | M | T | 316 | rs200975632 | Benign |
7543 | P00156 (MT-CYB) | A | T | 329 | - | Benign |
7544 | P00156 (MT-CYB) | A | T | 330 | rs386829259 | Benign |
7545 | P00156 (MT-CYB) | I | V | 334 | rs386829260 | Benign |
7546 | P00156 (MT-CYB) | V | M | 353 | - | Benign |
7547 | P00156 (MT-CYB) | V | M | 356 | rs200336777 | Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000] |
7548 | P00156 (MT-CYB) | T | A | 360 | rs28357376 | Benign |
7549 | P00156 (MT-CYB) | T | I | 368 | rs202225494 | Benign |
7550 | P00167 (CYB5A) | H | L | 44 | rs1555688659 | Disease: Methemoglobi nemia and ambiguous genitalia (METAG) [MIM:250790] |
7551 | P00325 (ADH1B) | R | H | 48 | rs1229984 | Benign |
7552 | P00325 (ADH1B) | N | K | 57 | rs1041969 | Benign |
7553 | P00325 (ADH1B) | T | S | 60 | rs6413413 | Benign |
7554 | P00325 (ADH1B) | R | C | 370 | rs2066702 | Benign |
7555 | P00326 (ADH1C) | R | H | 48 | rs35385902 | Benign |
7556 | P00326 (ADH1C) | P | S | 166 | rs34195308 | Benign |
7557 | P00326 (ADH1C) | R | Q | 272 | rs1693482 | Benign |
7558 | P00326 (ADH1C) | I | V | 350 | rs698 | Benign |
7559 | P00326 (ADH1C) | P | T | 352 | rs35719513 | Benign |
7560 | P00338 (LDHA) | K | E | 222 | rs748436361 | Benign |
7561 | P00338 (LDHA) | R | C | 315 | rs200093825 | Benign |
7562 | P00352 (ALDH1A1) | N | S | 121 | rs1049981 | Benign |
7563 | P00352 (ALDH1A1) | G | R | 125 | rs11554423 | Benign |
7564 | P00352 (ALDH1A1) | I | F | 177 | rs8187929 | Benign |
7565 | P00367 (GLUD1) | S | C | 270 | - | Disease: Familial hyperinsulin emic hypoglycemia 6 (HHF6) [MIM:606762] |
7566 | P00367 (GLUD1) | R | C | 274 | rs56275071 | Disease: Familial hyperinsulin emic hypoglycemia 6 (HHF6) [MIM:606762] |
7567 | P00367 (GLUD1) | R | K | 318 | rs121909736 | Disease: Familial hyperinsulin emic hypoglycemia 6 (HHF6) [MIM:606762] |
7568 | P00367 (GLUD1) | R | T | 318 | - | Disease: Familial hyperinsulin emic hypoglycemia 6 (HHF6) [MIM:606762] |
7569 | P00367 (GLUD1) | Y | C | 319 | rs1554906133 | Disease: Familial hyperinsulin emic hypoglycemia 6 (HHF6) [MIM:606762] |
7570 | P00367 (GLUD1) | R | C | 322 | - | Disease: Familial hyperinsulin emic hypoglycemia 6 (HHF6) [MIM:606762] |
7571 | P00367 (GLUD1) | R | H | 322 | rs121909737 | Disease: Familial hyperinsulin emic hypoglycemia 6 (HHF6) [MIM:606762] |
7572 | P00367 (GLUD1) | E | A | 349 | rs121909735 | Disease: Familial hyperinsulin emic hypoglycemia 6 (HHF6) [MIM:606762] |
7573 | P00367 (GLUD1) | S | L | 498 | rs121909731 | Disease: Familial hyperinsulin emic hypoglycemia 6 (HHF6) [MIM:606762] |
7574 | P00367 (GLUD1) | G | D | 499 | rs121909734 | Disease: Familial hyperinsulin emic hypoglycemia 6 (HHF6) [MIM:606762] |
7575 | P00367 (GLUD1) | G | S | 499 | rs121909733 | Disease: Familial hyperinsulin emic hypoglycemia 6 (HHF6) [MIM:606762] |
7576 | P00367 (GLUD1) | S | P | 501 | rs121909732 | Disease: Familial hyperinsulin emic hypoglycemia 6 (HHF6) [MIM:606762] |
7577 | P00367 (GLUD1) | H | Y | 507 | rs121909730 | Disease: Familial hyperinsulin emic hypoglycemia 6 (HHF6) [MIM:606762] |
7578 | P00374 (DHFR) | L | F | 80 | rs387906619 | Disease: Megaloblasti c anemia due to dihydrofolat e reductase deficiency (DHFRD) [MIM:613839] |
7579 | P00374 (DHFR) | D | V | 153 | rs121913223 | Disease: Megaloblasti c anemia due to dihydrofolat e reductase deficiency (DHFRD) [MIM:613839] |
7580 | P00387 (CYB5R3) | R | Q | 58 | rs121965007 | Disease: Methemoglobi nemia CYB5R3-relat ed (METHB- CYB5R3) [MIM:250800] |
7581 | P00387 (CYB5R3) | S | P | 66 | rs1130706 | Benign |
7582 | P00387 (CYB5R3) | L | P | 73 | rs121965013 | Disease: Methemoglobi nemia CYB5R3-relat ed (METHB- CYB5R3) [MIM:250800] |
7583 | P00387 (CYB5R3) | V | M | 106 | rs121965009 | Disease: Methemoglobi nemia CYB5R3-relat ed (METHB- CYB5R3) [MIM:250800] |
7584 | P00387 (CYB5R3) | T | S | 117 | rs1800457 | Benign |
7585 | P00387 (CYB5R3) | S | P | 128 | rs121965006 | Disease: Methemoglobi nemia CYB5R3-relat ed (METHB- CYB5R3) [MIM:250800] |
7586 | P00387 (CYB5R3) | L | P | 149 | rs121965008 | Disease: Methemoglobi nemia CYB5R3-relat ed (METHB- CYB5R3) [MIM:250800] |
7587 | P00387 (CYB5R3) | A | V | 179 | rs201232518 | Disease: Methemoglobi nemia CYB5R3-relat ed (METHB- CYB5R3) [MIM:250800] |
7588 | P00387 (CYB5R3) | C | R | 204 | rs121965011 | Disease: Methemoglobi nemia CYB5R3-relat ed (METHB- CYB5R3) [MIM:250800] |
7589 | P00387 (CYB5R3) | C | Y | 204 | rs121965015 | Disease: Methemoglobi nemia CYB5R3-relat ed (METHB- CYB5R3) [MIM:250800] |
7590 | P00387 (CYB5R3) | G | D | 292 | rs121965016 | Disease: Methemoglobi nemia CYB5R3-relat ed (METHB- CYB5R3) [MIM:250800] |
7591 | P00390 (GSR) | R | C | 153 | rs8190955 | Benign |
7592 | P00390 (GSR) | G | R | 232 | rs8190976 | Benign |
7593 | P00390 (GSR) | G | S | 232 | rs8190976 | Benign |
7594 | P00390 (GSR) | I | V | 261 | rs8190997 | Benign |
7595 | P00390 (GSR) | E | D | 297 | rs8191004 | Benign |
7596 | P00390 (GSR) | P | H | 314 | rs2020916 | Benign |
7597 | P00390 (GSR) | G | A | 374 | - | Disease: Hemolytic anemia due to glutathione reductase deficiency (HAGRD) [MIM:618660] |
7598 | P00395 (MT-CO1) | T | A | 10 | - | Benign |
7599 | P00395 (MT-CO1) | F | C | 94 | - | Benign |
7600 | P00395 (MT-CO1) | G | D | 125 | rs281865417 | Disease: Colorectal cancer (CRC) [MIM:114500] |
7601 | P00395 (MT-CO1) | S | F | 142 | rs267606883 | Disease: Mitochondria l complex IV deficiency (MT-C4D) [MIM:220110] |
7602 | P00395 (MT-CO1) | V | L | 155 | - | Benign |
7603 | P00395 (MT-CO1) | L | I | 196 | rs28461189 | Disease: Mitochondria l complex IV deficiency (MT-C4D) [MIM:220110] |
7604 | P00395 (MT-CO1) | G | A | 224 | - | Benign |
7605 | P00395 (MT-CO1) | F | S | 235 | rs2853818 | Benign |
7606 | P00395 (MT-CO1) | M | T | 273 | rs199476127 | Benign |
7607 | P00395 (MT-CO1) | I | T | 280 | rs199476126 | Benign |
7608 | P00395 (MT-CO1) | F | L | 305 | rs368552121 | Benign |
7609 | P00395 (MT-CO1) | T | A | 415 | rs372136420 | Benign |
7610 | P00395 (MT-CO1) | S | P | 458 | rs267606884 | Disease: Colorectal cancer (CRC) [MIM:114500] |
7611 | P00403 (MT-CO2) | D | A | 11 | - | Benign |
7612 | P00403 (MT-CO2) | M | K | 29 | rs199474827 | Disease: Mitochondria l complex IV deficiency (MT-C4D) [MIM:220110] |
7613 | P00403 (MT-CO2) | I | V | 30 | - | Benign |
7614 | P00403 (MT-CO2) | L | P | 123 | - | Benign |
7615 | P00403 (MT-CO2) | A | T | 148 | rs1116904 | Benign |
7616 | P00403 (MT-CO2) | T | M | 187 | - | Benign |
7617 | P00414 (MT-CO3) | H | R | 3 | - | Benign |
7618 | P00414 (MT-CO3) | F | S | 35 | - | Benign |
7619 | P00414 (MT-CO3) | G | S | 78 | rs267606611 | Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000] |
7620 | P00414 (MT-CO3) | V | I | 91 | rs2853825 | Benign |
7621 | P00414 (MT-CO3) | Q | R | 177 | - | Benign |
7622 | P00414 (MT-CO3) | A | T | 200 | rs200613617 | Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000] |
7623 | P00414 (MT-CO3) | V | I | 254 | rs200809063 | Benign |
7624 | P00439 (PAH) | S | P | 16 | rs62642946 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7625 | P00439 (PAH) | Q | L | 20 | rs199475662 | Disease: Hyperphenyla laninemia (HPA) [MIM:261600] |
7626 | P00439 (PAH) | F | L | 39 | rs62642926 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7627 | P00439 (PAH) | S | L | 40 | rs62642938 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7628 | P00439 (PAH) | L | F | 41 | rs62642928 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7629 | P00439 (PAH) | L | P | 41 | rs62642916 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7630 | P00439 (PAH) | K | I | 42 | rs62635346 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7631 | P00439 (PAH) | V | A | 45 | - | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7632 | P00439 (PAH) | G | S | 46 | rs74603784 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7633 | P00439 (PAH) | A | V | 47 | rs118203925 | Disease: Non-phenylke tonuria hyperphenyla laninemia (Non-PKU HPA) [MIM:261600] |
7634 | P00439 (PAH) | L | S | 48 | rs5030841 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7635 | P00439 (PAH) | R | H | 53 | rs118092776 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7636 | P00439 (PAH) | F | L | 55 | rs199475598 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7637 | P00439 (PAH) | E | D | 56 | rs199475567 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7638 | P00439 (PAH) | N | D | 61 | rs199475651 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7639 | P00439 (PAH) | L | P | 62 | - | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7640 | P00439 (PAH) | I | N | 65 | rs75193786 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7641 | P00439 (PAH) | I | S | 65 | rs75193786 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7642 | P00439 (PAH) | I | T | 65 | rs75193786 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7643 | P00439 (PAH) | I | V | 65 | rs199475643 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7644 | P00439 (PAH) | S | P | 67 | rs5030842 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7645 | P00439 (PAH) | R | S | 68 | rs76394784 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7646 | P00439 (PAH) | E | A | 76 | rs62507347 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7647 | P00439 (PAH) | E | G | 76 | rs62507347 | Disease: Non-phenylke tonuria hyperphenyla laninemia (Non-PKU HPA) [MIM:261600] |
7648 | P00439 (PAH) | D | Y | 84 | rs62514902 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7649 | P00439 (PAH) | S | R | 87 | rs62516151 | Disease: Non-phenylke tonuria hyperphenyla laninemia (Non-PKU HPA) [MIM:261600] |
7650 | P00439 (PAH) | T | I | 92 | rs62514903 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7651 | P00439 (PAH) | L | S | 98 | rs62517167 | Disease: Non-phenylke tonuria hyperphenyla laninemia (Non-PKU HPA) [MIM:261600] |
7652 | P00439 (PAH) | A | D | 104 | rs62642929 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7653 | P00439 (PAH) | S | C | 110 | - | Disease: Hyperphenyla laninemia (HPA) [MIM:261600] |
7654 | P00439 (PAH) | F | L | 121 | - | Disease: Hyperphenyla laninemia (HPA) [MIM:261600] |
7655 | P00439 (PAH) | T | I | 124 | rs199475571 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7656 | P00439 (PAH) | D | Y | 129 | rs199475606 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7657 | P00439 (PAH) | D | G | 143 | rs199475572 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7658 | P00439 (PAH) | D | V | 145 | rs140175796 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7659 | P00439 (PAH) | H | Y | 146 | rs199475599 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7660 | P00439 (PAH) | G | S | 148 | rs80297647 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7661 | P00439 (PAH) | D | H | 151 | rs199475597 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7662 | P00439 (PAH) | Y | N | 154 | rs199475587 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7663 | P00439 (PAH) | R | P | 155 | rs199475663 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7664 | P00439 (PAH) | R | N | 157 | - | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7665 | P00439 (PAH) | R | S | 157 | rs199475612 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7666 | P00439 (PAH) | R | Q | 158 | rs5030843 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7667 | P00439 (PAH) | R | W | 158 | rs75166491 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7668 | P00439 (PAH) | Q | P | 160 | rs199475601 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7669 | P00439 (PAH) | F | S | 161 | rs79635844 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7670 | P00439 (PAH) | I | T | 164 | rs199475595 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7671 | P00439 (PAH) | N | I | 167 | rs77554925 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7672 | P00439 (PAH) | N | S | 167 | rs77554925 | Disease: Hyperphenyla laninemia (HPA) [MIM:261600] |
7673 | P00439 (PAH) | R | H | 169 | rs199475679 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7674 | P00439 (PAH) | H | D | 170 | rs199475655 | Disease: Hyperphenyla laninemia (HPA) [MIM:261600] |
7675 | P00439 (PAH) | H | Q | 170 | rs199475652 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7676 | P00439 (PAH) | H | R | 170 | rs199475573 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7677 | P00439 (PAH) | G | A | 171 | rs199475596 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7678 | P00439 (PAH) | G | R | 171 | rs199475613 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7679 | P00439 (PAH) | P | T | 173 | rs199475574 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7680 | P00439 (PAH) | I | T | 174 | rs138809906 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7681 | P00439 (PAH) | I | V | 174 | rs199475632 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7682 | P00439 (PAH) | P | A | 175 | rs199475604 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7683 | P00439 (PAH) | R | L | 176 | rs74486803 | Disease: Non-phenylke tonuria hyperphenyla laninemia (Non-PKU HPA) [MIM:261600] |
7684 | P00439 (PAH) | R | P | 176 | rs74486803 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7685 | P00439 (PAH) | V | L | 177 | rs199475602 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7686 | P00439 (PAH) | V | M | 177 | rs199475602 | Disease: Hyperphenyla laninemia (HPA) [MIM:261600] |
7687 | P00439 (PAH) | E | G | 178 | rs77958223 | Disease: Non-phenylke tonuria hyperphenyla laninemia (Non-PKU HPA) [MIM:261600] |
7688 | P00439 (PAH) | E | Q | 183 | rs199475664 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7689 | P00439 (PAH) | V | A | 190 | rs62514919 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7690 | P00439 (PAH) | L | P | 194 | rs5030844 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7691 | P00439 (PAH) | S | Y | 196 | rs865899394 | Disease: Hyperphenyla laninemia (HPA) [MIM:261600] |
7692 | P00439 (PAH) | H | R | 201 | rs62517180 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7693 | P00439 (PAH) | H | Y | 201 | rs62517205 | Disease: Non-phenylke tonuria hyperphenyla laninemia (Non-PKU HPA) [MIM:261600] |
7694 | P00439 (PAH) | Y | C | 204 | rs62514927 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7695 | P00439 (PAH) | E | A | 205 | rs62508593 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7696 | P00439 (PAH) | Y | D | 206 | rs62517170 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7697 | P00439 (PAH) | N | D | 207 | rs62508572 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7698 | P00439 (PAH) | N | S | 207 | rs62508721 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7699 | P00439 (PAH) | P | T | 211 | rs62514931 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7700 | P00439 (PAH) | L | P | 212 | rs62517198 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7701 | P00439 (PAH) | L | P | 213 | rs62516109 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7702 | P00439 (PAH) | C | G | 217 | rs62508718 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7703 | P00439 (PAH) | G | V | 218 | rs62514933 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7704 | P00439 (PAH) | E | G | 221 | rs62514934 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7705 | P00439 (PAH) | D | V | 222 | rs62507319 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7706 | P00439 (PAH) | I | M | 224 | rs199475576 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7707 | P00439 (PAH) | P | R | 225 | rs62517204 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7708 | P00439 (PAH) | P | T | 225 | rs199475589 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7709 | P00439 (PAH) | Q | H | 226 | rs62508615 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7710 | P00439 (PAH) | V | I | 230 | rs62516152 | Disease: Non-phenylke tonuria hyperphenyla laninemia (Non-PKU HPA) [MIM:261600] |
7711 | P00439 (PAH) | S | F | 231 | rs62508577 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7712 | P00439 (PAH) | S | P | 231 | rs5030845 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7713 | P00439 (PAH) | F | L | 233 | rs62517208 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7714 | P00439 (PAH) | T | P | 238 | rs199475577 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7715 | P00439 (PAH) | G | S | 239 | rs62517178 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7716 | P00439 (PAH) | F | S | 240 | rs62508594 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7717 | P00439 (PAH) | R | C | 241 | rs76687508 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7718 | P00439 (PAH) | R | H | 241 | rs62508730 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7719 | P00439 (PAH) | R | L | 241 | rs62508730 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7720 | P00439 (PAH) | L | F | 242 | rs199475578 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7721 | P00439 (PAH) | R | Q | 243 | rs62508588 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7722 | P00439 (PAH) | P | L | 244 | rs118203923 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7723 | P00439 (PAH) | V | A | 245 | rs796052017 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7724 | P00439 (PAH) | V | E | 245 | rs76212747 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7725 | P00439 (PAH) | V | L | 245 | rs62508694 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7726 | P00439 (PAH) | A | D | 246 | rs199475610 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7727 | P00439 (PAH) | G | V | 247 | rs199475579 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7728 | P00439 (PAH) | L | P | 248 | rs62507340 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7729 | P00439 (PAH) | L | F | 249 | rs74503222 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7730 | P00439 (PAH) | R | G | 252 | rs5030847 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7731 | P00439 (PAH) | R | Q | 252 | rs62644503 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7732 | P00439 (PAH) | R | W | 252 | rs5030847 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7733 | P00439 (PAH) | L | S | 255 | rs62642930 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7734 | P00439 (PAH) | L | V | 255 | rs62642931 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7735 | P00439 (PAH) | G | C | 257 | rs5030848 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7736 | P00439 (PAH) | A | T | 259 | rs62642932 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7737 | P00439 (PAH) | A | V | 259 | rs118203921 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7738 | P00439 (PAH) | R | P | 261 | rs5030849 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7739 | P00439 (PAH) | R | Q | 261 | rs5030849 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7740 | P00439 (PAH) | F | L | 263 | rs62642944 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7741 | P00439 (PAH) | H | L | 264 | rs199475580 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7742 | P00439 (PAH) | C | G | 265 | rs62517181 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7743 | P00439 (PAH) | I | L | 269 | rs62508692 | Disease: Non-phenylke tonuria hyperphenyla laninemia (Non-PKU HPA) [MIM:261600] |
7744 | P00439 (PAH) | R | K | 270 | rs62514950 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7745 | P00439 (PAH) | R | S | 270 | rs62514951 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7746 | P00439 (PAH) | H | Y | 271 | rs62517164 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7747 | P00439 (PAH) | S | F | 273 | rs62514953 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7748 | P00439 (PAH) | K | E | 274 | rs142934616 | Benign |
7749 | P00439 (PAH) | P | L | 275 | rs62508715 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7750 | P00439 (PAH) | M | I | 276 | rs62514954 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7751 | P00439 (PAH) | M | V | 276 | rs62516149 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7752 | P00439 (PAH) | Y | C | 277 | rs62516155 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7753 | P00439 (PAH) | Y | D | 277 | rs78655458 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7754 | P00439 (PAH) | T | A | 278 | rs62516156 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7755 | P00439 (PAH) | T | N | 278 | rs62507262 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7756 | P00439 (PAH) | E | K | 280 | rs62508698 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7757 | P00439 (PAH) | P | L | 281 | rs5030851 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7758 | P00439 (PAH) | D | N | 282 | rs199475582 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7759 | P00439 (PAH) | I | F | 283 | rs62517168 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7760 | P00439 (PAH) | I | N | 283 | rs62508693 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7761 | P00439 (PAH) | H | Y | 290 | rs1486763160 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7762 | P00439 (PAH) | R | C | 297 | rs62642945 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7763 | P00439 (PAH) | R | H | 297 | rs62642939 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7764 | P00439 (PAH) | F | C | 299 | rs62642933 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7765 | P00439 (PAH) | A | S | 300 | rs5030853 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7766 | P00439 (PAH) | A | V | 300 | rs199475609 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7767 | P00439 (PAH) | S | P | 303 | rs199475608 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7768 | P00439 (PAH) | Q | R | 304 | rs199475592 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7769 | P00439 (PAH) | I | V | 306 | rs62642934 | Disease: Non-phenylke tonuria hyperphenyla laninemia (Non-PKU HPA) [MIM:261600] |
7770 | P00439 (PAH) | A | D | 309 | rs62642935 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7771 | P00439 (PAH) | A | V | 309 | rs62642935 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7772 | P00439 (PAH) | S | F | 310 | rs62642913 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7773 | P00439 (PAH) | S | Y | 310 | rs62642913 | Disease: Hyperphenyla laninemia (HPA) [MIM:261600] |
7774 | P00439 (PAH) | L | P | 311 | rs62642936 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7775 | P00439 (PAH) | P | H | 314 | rs62642940 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7776 | P00439 (PAH) | P | S | 314 | rs199475650 | Disease: Hyperphenyla laninemia (HPA) [MIM:261600] |
7777 | P00439 (PAH) | I | T | 318 | rs62642918 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7778 | P00439 (PAH) | A | G | 322 | rs62514958 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7779 | P00439 (PAH) | A | T | 322 | rs62514957 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7780 | P00439 (PAH) | A | V | 322 | rs62514958 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7781 | P00439 (PAH) | Y | C | 325 | rs62508578 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7782 | P00439 (PAH) | E | D | 330 | rs62508580 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7783 | P00439 (PAH) | F | L | 331 | rs62517179 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7784 | P00439 (PAH) | L | F | 333 | rs62516060 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7785 | P00439 (PAH) | C | S | 334 | rs62517174 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7786 | P00439 (PAH) | G | V | 337 | rs62517206 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7787 | P00439 (PAH) | D | Y | 338 | rs62516150 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7788 | P00439 (PAH) | K | R | 341 | rs62516153 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7789 | P00439 (PAH) | K | T | 341 | rs62516153 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7790 | P00439 (PAH) | A | T | 342 | rs62507282 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7791 | P00439 (PAH) | Y | C | 343 | rs62507265 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7792 | P00439 (PAH) | G | R | 344 | rs62508679 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7793 | P00439 (PAH) | G | V | 344 | rs62508582 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7794 | P00439 (PAH) | A | S | 345 | rs62516062 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7795 | P00439 (PAH) | A | T | 345 | rs62516062 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7796 | P00439 (PAH) | L | F | 347 | rs62516154 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7797 | P00439 (PAH) | L | V | 348 | rs62516092 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7798 | P00439 (PAH) | S | L | 349 | rs62507279 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7799 | P00439 (PAH) | S | P | 349 | rs62508646 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7800 | P00439 (PAH) | S | T | 350 | rs62517183 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7801 | P00439 (PAH) | C | G | 357 | rs62508595 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7802 | P00439 (PAH) | P | T | 362 | rs62507329 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7803 | P00439 (PAH) | P | H | 366 | rs62516098 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7804 | P00439 (PAH) | T | S | 372 | rs62517163 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7805 | P00439 (PAH) | Y | C | 377 | rs62642942 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7806 | P00439 (PAH) | T | M | 380 | rs62642937 | Disease: Non-phenylke tonuria hyperphenyla laninemia (Non-PKU HPA) [MIM:261600] |
7807 | P00439 (PAH) | Y | C | 386 | rs62516141 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7808 | P00439 (PAH) | Y | H | 387 | rs62517194 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7809 | P00439 (PAH) | V | L | 388 | rs62516101 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7810 | P00439 (PAH) | V | M | 388 | rs62516101 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7811 | P00439 (PAH) | E | G | 390 | rs5030856 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7812 | P00439 (PAH) | D | A | 394 | rs62516102 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7813 | P00439 (PAH) | D | H | 394 | rs62516142 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7814 | P00439 (PAH) | A | G | 395 | rs62508736 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7815 | P00439 (PAH) | A | P | 395 | rs62516103 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7816 | P00439 (PAH) | A | V | 403 | rs5030857 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7817 | P00439 (PAH) | P | L | 407 | rs62644473 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7818 | P00439 (PAH) | P | S | 407 | rs62644465 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7819 | P00439 (PAH) | R | Q | 408 | rs5030859 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7820 | P00439 (PAH) | R | W | 408 | rs5030858 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7821 | P00439 (PAH) | F | S | 410 | rs62644475 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7822 | P00439 (PAH) | R | P | 413 | rs79931499 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7823 | P00439 (PAH) | R | S | 413 | rs62644467 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7824 | P00439 (PAH) | Y | C | 414 | rs5030860 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7825 | P00439 (PAH) | D | N | 415 | rs62644499 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7826 | P00439 (PAH) | Y | H | 417 | rs62644471 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7827 | P00439 (PAH) | T | P | 418 | rs62644501 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7828 | P00439 (PAH) | I | S | 421 | - | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7829 | P00439 (PAH) | L | P | 430 | rs199475607 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7830 | P00439 (PAH) | A | D | 447 | rs76542238 | Disease: Phenylketonu ria (PKU) [MIM:261600] |
7831 | P00441 (SOD1) | A | S | 5 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7832 | P00441 (SOD1) | A | T | 5 | rs121912444 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7833 | P00441 (SOD1) | A | V | 5 | rs121912442 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7834 | P00441 (SOD1) | C | F | 7 | rs121912448 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7835 | P00441 (SOD1) | V | E | 8 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7836 | P00441 (SOD1) | L | Q | 9 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7837 | P00441 (SOD1) | L | V | 9 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7838 | P00441 (SOD1) | G | R | 13 | rs121912456 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7839 | P00441 (SOD1) | V | G | 15 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7840 | P00441 (SOD1) | V | M | 15 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7841 | P00441 (SOD1) | G | S | 17 | rs121912453 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7842 | P00441 (SOD1) | F | C | 21 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7843 | P00441 (SOD1) | E | G | 22 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7844 | P00441 (SOD1) | E | K | 22 | rs121912450 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7845 | P00441 (SOD1) | Q | L | 23 | rs1169198442 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7846 | P00441 (SOD1) | G | R | 38 | rs121912431 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7847 | P00441 (SOD1) | L | R | 39 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7848 | P00441 (SOD1) | L | V | 39 | rs121912432 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7849 | P00441 (SOD1) | G | D | 42 | rs121912434 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7850 | P00441 (SOD1) | G | S | 42 | rs121912433 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7851 | P00441 (SOD1) | H | R | 44 | rs121912435 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7852 | P00441 (SOD1) | F | C | 46 | rs121912457 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7853 | P00441 (SOD1) | H | R | 47 | rs121912443 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7854 | P00441 (SOD1) | H | Q | 49 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7855 | P00441 (SOD1) | H | R | 49 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7856 | P00441 (SOD1) | E | K | 50 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7857 | P00441 (SOD1) | T | R | 55 | rs986277034 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7858 | P00441 (SOD1) | N | S | 66 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7859 | P00441 (SOD1) | L | P | 68 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7860 | P00441 (SOD1) | L | R | 68 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7861 | P00441 (SOD1) | G | S | 73 | rs121912455 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7862 | P00441 (SOD1) | D | Y | 77 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7863 | P00441 (SOD1) | H | A | 81 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7864 | P00441 (SOD1) | L | F | 85 | rs1315541036 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7865 | P00441 (SOD1) | L | V | 85 | rs121912452 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7866 | P00441 (SOD1) | G | R | 86 | rs121912436 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7867 | P00441 (SOD1) | N | S | 87 | rs11556620 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7868 | P00441 (SOD1) | V | A | 88 | rs1339283341 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7869 | P00441 (SOD1) | A | T | 90 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7870 | P00441 (SOD1) | A | V | 90 | rs1280042397 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7871 | P00441 (SOD1) | D | A | 91 | rs80265967 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7872 | P00441 (SOD1) | D | V | 91 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7873 | P00441 (SOD1) | G | A | 94 | rs121912438 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7874 | P00441 (SOD1) | G | C | 94 | rs121912437 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7875 | P00441 (SOD1) | G | D | 94 | rs121912438 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7876 | P00441 (SOD1) | G | R | 94 | rs121912437 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7877 | P00441 (SOD1) | G | V | 94 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7878 | P00441 (SOD1) | A | G | 96 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7879 | P00441 (SOD1) | V | M | 98 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7880 | P00441 (SOD1) | E | G | 101 | rs121912439 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7881 | P00441 (SOD1) | E | K | 101 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7882 | P00441 (SOD1) | D | G | 102 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7883 | P00441 (SOD1) | D | N | 102 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7884 | P00441 (SOD1) | I | F | 105 | rs121912445 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7885 | P00441 (SOD1) | S | L | 106 | rs1378590183 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7886 | P00441 (SOD1) | L | V | 107 | rs121912440 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7887 | P00441 (SOD1) | G | V | 109 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7888 | P00441 (SOD1) | C | Y | 112 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7889 | P00441 (SOD1) | I | M | 113 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7890 | P00441 (SOD1) | I | T | 113 | rs74315452 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7891 | P00441 (SOD1) | I | T | 114 | rs121912441 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7892 | P00441 (SOD1) | G | A | 115 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7893 | P00441 (SOD1) | R | G | 116 | rs1301635320 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7894 | P00441 (SOD1) | V | L | 119 | rs1235629842 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7895 | P00441 (SOD1) | D | G | 125 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7896 | P00441 (SOD1) | D | V | 125 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7897 | P00441 (SOD1) | D | H | 126 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7898 | P00441 (SOD1) | L | S | 127 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7899 | P00441 (SOD1) | S | N | 135 | rs121912451 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7900 | P00441 (SOD1) | N | K | 140 | rs1804449 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7901 | P00441 (SOD1) | L | F | 145 | rs1482760341 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7902 | P00441 (SOD1) | L | S | 145 | rs121912446 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7903 | P00441 (SOD1) | A | T | 146 | rs121912447 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7904 | P00441 (SOD1) | C | R | 147 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7905 | P00441 (SOD1) | G | R | 148 | - | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7906 | P00441 (SOD1) | V | G | 149 | rs1476760624 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7907 | P00441 (SOD1) | V | I | 149 | rs567511139 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7908 | P00441 (SOD1) | I | T | 150 | rs1424014997 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7909 | P00441 (SOD1) | I | T | 152 | rs121912449 | Disease: Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
7910 | P00450 (CP) | I | T | 63 | rs759185877 | Benign |
7911 | P00450 (CP) | R | C | 367 | rs34624984 | Benign |
7912 | P00450 (CP) | P | L | 477 | rs35331711 | Benign |
7913 | P00450 (CP) | D | E | 544 | rs701753 | Benign |
7914 | P00450 (CP) | T | I | 551 | rs61733458 | Benign |
7915 | P00450 (CP) | R | H | 793 | rs115552500 | Benign |
7916 | P00450 (CP) | T | R | 841 | rs56033670 | Benign |
7917 | P00451 (F8) | S | R | 19 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7918 | P00451 (F8) | R | T | 22 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7919 | P00451 (F8) | Y | C | 24 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7920 | P00451 (F8) | Y | C | 25 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7921 | P00451 (F8) | L | P | 26 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7922 | P00451 (F8) | L | R | 26 | rs137852377 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7923 | P00451 (F8) | E | V | 30 | rs137852378 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7924 | P00451 (F8) | W | G | 33 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7925 | P00451 (F8) | Y | C | 35 | rs137852476 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7926 | P00451 (F8) | Y | H | 35 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7927 | P00451 (F8) | G | C | 41 | rs137852379 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7928 | P00451 (F8) | R | C | 48 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7929 | P00451 (F8) | R | K | 48 | rs1261929809 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7930 | P00451 (F8) | K | E | 67 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7931 | P00451 (F8) | K | N | 67 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7932 | P00451 (F8) | L | P | 69 | rs944567323 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7933 | P00451 (F8) | E | K | 72 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7934 | P00451 (F8) | D | V | 75 | rs1800288 | Benign |
7935 | P00451 (F8) | D | E | 75 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7936 | P00451 (F8) | D | Y | 75 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7937 | P00451 (F8) | P | R | 83 | rs781974394 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7938 | P00451 (F8) | G | D | 89 | rs137852380 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7939 | P00451 (F8) | G | V | 89 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7940 | P00451 (F8) | G | A | 92 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7941 | P00451 (F8) | G | V | 92 | rs137852381 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7942 | P00451 (F8) | A | P | 97 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7943 | P00451 (F8) | E | K | 98 | rs1296842178 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7944 | P00451 (F8) | V | D | 99 | rs137852382 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7945 | P00451 (F8) | D | G | 101 | rs1312347909 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7946 | P00451 (F8) | D | H | 101 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7947 | P00451 (F8) | D | V | 101 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7948 | P00451 (F8) | V | D | 104 | rs137852383 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7949 | P00451 (F8) | K | T | 108 | rs137852384 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7950 | P00451 (F8) | M | V | 110 | rs137852385 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7951 | P00451 (F8) | A | T | 111 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7952 | P00451 (F8) | A | V | 111 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7953 | P00451 (F8) | H | R | 113 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7954 | P00451 (F8) | H | Y | 113 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7955 | P00451 (F8) | L | F | 117 | rs782481755 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7956 | P00451 (F8) | L | R | 117 | rs137852386 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7957 | P00451 (F8) | G | S | 121 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7958 | P00451 (F8) | E | V | 129 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7959 | P00451 (F8) | G | R | 130 | rs137852387 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7960 | P00451 (F8) | E | D | 132 | rs137852388 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7961 | P00451 (F8) | Y | C | 133 | rs137852389 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7962 | P00451 (F8) | D | G | 135 | rs137852390 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7963 | P00451 (F8) | D | Y | 135 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7964 | P00451 (F8) | T | A | 137 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7965 | P00451 (F8) | T | I | 137 | rs137852391 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7966 | P00451 (F8) | S | R | 138 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7967 | P00451 (F8) | E | K | 141 | rs1388356765 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7968 | P00451 (F8) | D | H | 145 | rs1433420305 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7969 | P00451 (F8) | V | D | 147 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7970 | P00451 (F8) | Y | H | 155 | rs1281943689 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7971 | P00451 (F8) | V | A | 159 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7972 | P00451 (F8) | N | K | 163 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7973 | P00451 (F8) | G | D | 164 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7974 | P00451 (F8) | G | V | 164 | rs137852392 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7975 | P00451 (F8) | P | S | 165 | rs137852393 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7976 | P00451 (F8) | C | W | 172 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7977 | P00451 (F8) | S | P | 176 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7978 | P00451 (F8) | S | P | 179 | rs1455943875 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7979 | P00451 (F8) | V | E | 181 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7980 | P00451 (F8) | V | M | 181 | rs137852394 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7981 | P00451 (F8) | K | T | 185 | rs137852395 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7982 | P00451 (F8) | D | G | 186 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7983 | P00451 (F8) | D | N | 186 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7984 | P00451 (F8) | D | Y | 186 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7985 | P00451 (F8) | S | L | 189 | rs137852367 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7986 | P00451 (F8) | L | F | 191 | rs1341730743 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7987 | P00451 (F8) | G | R | 193 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7988 | P00451 (F8) | L | P | 195 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7989 | P00451 (F8) | C | G | 198 | rs137852475 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7990 | P00451 (F8) | S | N | 202 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7991 | P00451 (F8) | S | R | 202 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7992 | P00451 (F8) | F | V | 214 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7993 | P00451 (F8) | L | H | 217 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7994 | P00451 (F8) | A | D | 219 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7995 | P00451 (F8) | A | T | 219 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7996 | P00451 (F8) | V | G | 220 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7997 | P00451 (F8) | D | V | 222 | rs137852396 | Disease: Hemophilia A (HEMA) [MIM:306700] |
7998 | P00451 (F8) | E | K | 223 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
7999 | P00451 (F8) | G | W | 224 | rs137852397 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8000 | P00451 (F8) | T | I | 252 | rs1464962436 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8001 | P00451 (F8) | V | F | 253 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8002 | P00451 (F8) | N | I | 254 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8003 | P00451 (F8) | G | V | 255 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8004 | P00451 (F8) | L | P | 261 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8005 | P00451 (F8) | P | L | 262 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8006 | P00451 (F8) | G | S | 263 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8007 | P00451 (F8) | G | E | 266 | rs137852398 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8008 | P00451 (F8) | C | Y | 267 | rs1208703993 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8009 | P00451 (F8) | W | C | 274 | rs34371500 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8010 | P00451 (F8) | H | L | 275 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8011 | P00451 (F8) | G | R | 278 | rs137852399 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8012 | P00451 (F8) | G | D | 280 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8013 | P00451 (F8) | E | K | 284 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8014 | P00451 (F8) | V | G | 285 | rs137852400 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8015 | P00451 (F8) | E | G | 291 | rs137852359 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8016 | P00451 (F8) | E | K | 291 | rs868988809 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8017 | P00451 (F8) | T | I | 294 | rs137852401 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8018 | P00451 (F8) | F | L | 295 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8019 | P00451 (F8) | V | A | 297 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8020 | P00451 (F8) | N | I | 299 | rs137852402 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8021 | P00451 (F8) | R | C | 301 | rs1401805753 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8022 | P00451 (F8) | R | H | 301 | rs137852403 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8023 | P00451 (F8) | R | L | 301 | rs137852403 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8024 | P00451 (F8) | A | E | 303 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8025 | P00451 (F8) | A | P | 303 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8026 | P00451 (F8) | I | S | 307 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8027 | P00451 (F8) | S | L | 308 | rs137852404 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8028 | P00451 (F8) | F | S | 312 | rs137852405 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8029 | P00451 (F8) | T | A | 314 | rs137852406 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8030 | P00451 (F8) | T | I | 314 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8031 | P00451 (F8) | A | V | 315 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8032 | P00451 (F8) | G | E | 323 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8033 | P00451 (F8) | L | P | 326 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8034 | P00451 (F8) | L | P | 327 | rs137852407 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8035 | P00451 (F8) | L | V | 327 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8036 | P00451 (F8) | C | F | 329 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8037 | P00451 (F8) | I | V | 331 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8038 | P00451 (F8) | M | T | 339 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8039 | P00451 (F8) | E | K | 340 | rs781954986 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8040 | P00451 (F8) | V | A | 345 | rs1189348665 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8041 | P00451 (F8) | V | L | 345 | rs137852371 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8042 | P00451 (F8) | C | R | 348 | rs137852370 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8043 | P00451 (F8) | C | S | 348 | rs137852410 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8044 | P00451 (F8) | C | Y | 348 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8045 | P00451 (F8) | Y | C | 365 | rs375241473 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8046 | P00451 (F8) | R | C | 391 | rs137852364 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8047 | P00451 (F8) | R | H | 391 | rs28935499 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8048 | P00451 (F8) | R | P | 391 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8049 | P00451 (F8) | S | L | 392 | rs28933668 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8050 | P00451 (F8) | S | P | 392 | rs28933669 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8051 | P00451 (F8) | A | S | 394 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8052 | P00451 (F8) | W | G | 401 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8053 | P00451 (F8) | I | F | 405 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8054 | P00451 (F8) | I | S | 405 | rs28933670 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8055 | P00451 (F8) | E | G | 409 | rs28933671 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8056 | P00451 (F8) | W | G | 412 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8057 | P00451 (F8) | W | R | 412 | rs1234456704 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8058 | P00451 (F8) | K | I | 427 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8059 | P00451 (F8) | L | F | 431 | rs28933672 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8060 | P00451 (F8) | L | S | 431 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8061 | P00451 (F8) | R | P | 437 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8062 | P00451 (F8) | R | W | 437 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8063 | P00451 (F8) | I | F | 438 | rs1258333672 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8064 | P00451 (F8) | G | D | 439 | rs1362305882 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8065 | P00451 (F8) | G | S | 439 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8066 | P00451 (F8) | G | V | 439 | rs1362305882 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8067 | P00451 (F8) | Y | C | 442 | rs1441830456 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8068 | P00451 (F8) | K | R | 444 | rs28937272 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8069 | P00451 (F8) | Y | D | 450 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8070 | P00451 (F8) | Y | N | 450 | rs111033616 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8071 | P00451 (F8) | T | I | 454 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8072 | P00451 (F8) | F | C | 455 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8073 | P00451 (F8) | G | E | 466 | rs1304348198 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8074 | P00451 (F8) | P | L | 470 | rs1240470740 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8075 | P00451 (F8) | P | R | 470 | rs1240470740 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8076 | P00451 (F8) | P | T | 470 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8077 | P00451 (F8) | G | E | 474 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8078 | P00451 (F8) | G | R | 474 | rs1345538633 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8079 | P00451 (F8) | G | V | 474 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8080 | P00451 (F8) | E | K | 475 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8081 | P00451 (F8) | G | V | 477 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8082 | P00451 (F8) | D | N | 478 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8083 | P00451 (F8) | T | R | 479 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8084 | P00451 (F8) | F | C | 484 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8085 | P00451 (F8) | A | G | 488 | rs782485864 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8086 | P00451 (F8) | R | G | 490 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8087 | P00451 (F8) | Y | C | 492 | rs137852412 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8088 | P00451 (F8) | Y | H | 492 | rs137852411 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8089 | P00451 (F8) | I | T | 494 | rs137852413 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8090 | P00451 (F8) | P | R | 496 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8091 | P00451 (F8) | G | R | 498 | rs137852414 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8092 | P00451 (F8) | R | H | 503 | rs35383156 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8093 | P00451 (F8) | G | S | 513 | rs1269117966 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8094 | P00451 (F8) | G | V | 513 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8095 | P00451 (F8) | I | Y | 522 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8096 | P00451 (F8) | K | E | 529 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8097 | P00451 (F8) | W | G | 532 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8098 | P00451 (F8) | P | T | 540 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8099 | P00451 (F8) | T | S | 541 | rs139526001 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8100 | P00451 (F8) | D | N | 544 | rs137852415 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8101 | P00451 (F8) | R | W | 546 | rs137852416 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8102 | P00451 (F8) | R | C | 550 | rs137852417 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8103 | P00451 (F8) | R | G | 550 | rs137852417 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8104 | P00451 (F8) | R | H | 550 | rs137852418 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8105 | P00451 (F8) | S | P | 553 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8106 | P00451 (F8) | S | C | 554 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8107 | P00451 (F8) | S | G | 554 | rs137852419 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8108 | P00451 (F8) | V | D | 556 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8109 | P00451 (F8) | R | T | 560 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8110 | P00451 (F8) | D | G | 561 | rs137852420 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8111 | P00451 (F8) | D | H | 561 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8112 | P00451 (F8) | D | Y | 561 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8113 | P00451 (F8) | I | T | 567 | rs782193428 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8114 | P00451 (F8) | P | R | 569 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8115 | P00451 (F8) | S | F | 577 | rs28937282 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8116 | P00451 (F8) | V | A | 578 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8117 | P00451 (F8) | D | A | 579 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8118 | P00451 (F8) | D | H | 579 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8119 | P00451 (F8) | N | S | 583 | rs782657516 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8120 | P00451 (F8) | Q | H | 584 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8121 | P00451 (F8) | Q | K | 584 | rs137852422 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8122 | P00451 (F8) | Q | R | 584 | rs1354815715 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8123 | P00451 (F8) | I | R | 585 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8124 | P00451 (F8) | I | T | 585 | rs137852376 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8125 | P00451 (F8) | M | V | 586 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8126 | P00451 (F8) | D | G | 588 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8127 | P00451 (F8) | D | Y | 588 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8128 | P00451 (F8) | L | Q | 594 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8129 | P00451 (F8) | S | P | 596 | rs137852423 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8130 | P00451 (F8) | N | D | 601 | rs1460318222 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8131 | P00451 (F8) | N | K | 601 | rs1299810903 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8132 | P00451 (F8) | R | G | 602 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8133 | P00451 (F8) | S | I | 603 | rs137852425 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8134 | P00451 (F8) | S | R | 603 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8135 | P00451 (F8) | W | C | 604 | rs137852426 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8136 | P00451 (F8) | Y | H | 605 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8137 | P00451 (F8) | Y | S | 605 | rs137852427 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8138 | P00451 (F8) | N | I | 609 | rs1253524555 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8139 | P00451 (F8) | R | C | 612 | rs137852428 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8140 | P00451 (F8) | N | K | 631 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8141 | P00451 (F8) | N | S | 631 | rs137852429 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8142 | P00451 (F8) | M | I | 633 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8143 | P00451 (F8) | S | N | 635 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8144 | P00451 (F8) | N | D | 637 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8145 | P00451 (F8) | N | I | 637 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8146 | P00451 (F8) | N | S | 637 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8147 | P00451 (F8) | Y | C | 639 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8148 | P00451 (F8) | L | V | 644 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8149 | P00451 (F8) | L | F | 650 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8150 | P00451 (F8) | V | A | 653 | rs137852430 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8151 | P00451 (F8) | V | M | 653 | rs137852431 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8152 | P00451 (F8) | L | P | 659 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8153 | P00451 (F8) | A | V | 663 | rs137852433 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8154 | P00451 (F8) | Q | P | 664 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8155 | P00451 (F8) | F | L | 677 | rs137852434 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8156 | P00451 (F8) | M | I | 681 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8157 | P00451 (F8) | V | F | 682 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8158 | P00451 (F8) | Y | C | 683 | rs1384374956 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8159 | P00451 (F8) | Y | N | 683 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8160 | P00451 (F8) | T | R | 686 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8161 | P00451 (F8) | F | L | 698 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8162 | P00451 (F8) | M | T | 699 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8163 | P00451 (F8) | M | V | 699 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8164 | P00451 (F8) | M | I | 701 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8165 | P00451 (F8) | G | V | 705 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8166 | P00451 (F8) | G | W | 710 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8167 | P00451 (F8) | N | I | 713 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8168 | P00451 (F8) | R | L | 717 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8169 | P00451 (F8) | R | W | 717 | rs137852435 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8170 | P00451 (F8) | G | D | 720 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8171 | P00451 (F8) | G | S | 720 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8172 | P00451 (F8) | M | I | 721 | rs1218576358 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8173 | P00451 (F8) | M | L | 721 | rs1305924233 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8174 | P00451 (F8) | A | T | 723 | rs137852436 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8175 | P00451 (F8) | L | Q | 725 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8176 | P00451 (F8) | V | F | 727 | rs1485277601 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8177 | P00451 (F8) | E | K | 739 | rs28937285 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8178 | P00451 (F8) | Y | C | 742 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8179 | P00451 (F8) | R | G | 795 | rs2228152 | Benign |
8180 | P00451 (F8) | P | R | 947 | rs782318401 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8181 | P00451 (F8) | V | L | 1012 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8182 | P00451 (F8) | E | K | 1057 | rs28933673 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8183 | P00451 (F8) | H | Y | 1066 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8184 | P00451 (F8) | D | E | 1260 | rs1800291 | Benign |
8185 | P00451 (F8) | K | Q | 1289 | rs1800292 | Benign |
8186 | P00451 (F8) | Q | K | 1336 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8187 | P00451 (F8) | N | K | 1460 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8188 | P00451 (F8) | L | P | 1481 | rs1800294 | Benign |
8189 | P00451 (F8) | A | S | 1610 | rs782127226 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8190 | P00451 (F8) | I | T | 1698 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8191 | P00451 (F8) | Y | C | 1699 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8192 | P00451 (F8) | Y | F | 1699 | rs28935203 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8193 | P00451 (F8) | E | K | 1701 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8194 | P00451 (F8) | Q | H | 1705 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8195 | P00451 (F8) | R | C | 1708 | rs111033613 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8196 | P00451 (F8) | R | H | 1708 | rs111033614 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8197 | P00451 (F8) | T | S | 1714 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8198 | P00451 (F8) | R | G | 1715 | rs137852439 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8199 | P00451 (F8) | A | V | 1720 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8200 | P00451 (F8) | E | K | 1723 | rs137852373 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8201 | P00451 (F8) | D | V | 1727 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8202 | P00451 (F8) | Y | C | 1728 | rs137852362 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8203 | P00451 (F8) | R | G | 1740 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8204 | P00451 (F8) | K | Q | 1751 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8205 | P00451 (F8) | F | L | 1762 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8206 | P00451 (F8) | R | H | 1768 | rs151202877 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8207 | P00451 (F8) | G | R | 1769 | rs137852440 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8208 | P00451 (F8) | L | P | 1771 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8209 | P00451 (F8) | L | F | 1775 | rs137852441 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8210 | P00451 (F8) | L | V | 1775 | rs28937287 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8211 | P00451 (F8) | L | P | 1777 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8212 | P00451 (F8) | G | E | 1779 | rs28937289 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8213 | P00451 (F8) | G | R | 1779 | rs1168919288 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8214 | P00451 (F8) | P | L | 1780 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8215 | P00451 (F8) | I | R | 1782 | rs1466581271 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8216 | P00451 (F8) | D | H | 1788 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8217 | P00451 (F8) | M | T | 1791 | rs137852375 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8218 | P00451 (F8) | A | P | 1798 | rs1263565590 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8219 | P00451 (F8) | S | H | 1799 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8220 | P00451 (F8) | R | C | 1800 | rs137852443 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8221 | P00451 (F8) | R | G | 1800 | rs137852443 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8222 | P00451 (F8) | R | H | 1800 | rs137852442 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8223 | P00451 (F8) | P | A | 1801 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8224 | P00451 (F8) | Y | C | 1802 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8225 | P00451 (F8) | S | Y | 1803 | rs137852444 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8226 | P00451 (F8) | F | S | 1804 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8227 | P00451 (F8) | L | F | 1808 | rs137852445 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8228 | P00451 (F8) | M | I | 1842 | rs28933674 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8229 | P00451 (F8) | P | S | 1844 | rs28933675 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8230 | P00451 (F8) | T | P | 1845 | rs28933676 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8231 | P00451 (F8) | E | G | 1848 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8232 | P00451 (F8) | A | T | 1853 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8233 | P00451 (F8) | A | V | 1853 | rs28933677 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8234 | P00451 (F8) | S | C | 1858 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8235 | P00451 (F8) | K | E | 1864 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8236 | P00451 (F8) | D | N | 1865 | rs28933678 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8237 | P00451 (F8) | D | Y | 1865 | rs28933678 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8238 | P00451 (F8) | H | P | 1867 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8239 | P00451 (F8) | H | R | 1867 | rs28933679 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8240 | P00451 (F8) | G | D | 1869 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8241 | P00451 (F8) | G | V | 1869 | rs1290383918 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8242 | P00451 (F8) | G | E | 1872 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8243 | P00451 (F8) | P | R | 1873 | rs28933680 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8244 | P00451 (F8) | L | P | 1875 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8245 | P00451 (F8) | V | L | 1876 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8246 | P00451 (F8) | C | R | 1877 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8247 | P00451 (F8) | C | Y | 1877 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8248 | P00451 (F8) | L | P | 1882 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8249 | P00451 (F8) | R | I | 1888 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8250 | P00451 (F8) | E | G | 1894 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8251 | P00451 (F8) | I | F | 1901 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8252 | P00451 (F8) | E | D | 1904 | rs1416920499 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8253 | P00451 (F8) | E | K | 1904 | rs28933681 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8254 | P00451 (F8) | S | C | 1907 | rs1160914716 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8255 | P00451 (F8) | S | R | 1907 | rs1364158178 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8256 | P00451 (F8) | W | L | 1908 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8257 | P00451 (F8) | Y | C | 1909 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8258 | P00451 (F8) | A | T | 1939 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8259 | P00451 (F8) | N | D | 1941 | rs137852369 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8260 | P00451 (F8) | N | S | 1941 | rs28933682 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8261 | P00451 (F8) | G | A | 1942 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8262 | P00451 (F8) | M | V | 1945 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8263 | P00451 (F8) | L | F | 1951 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8264 | P00451 (F8) | R | L | 1960 | rs28937294 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8265 | P00451 (F8) | R | Q | 1960 | rs28937294 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8266 | P00451 (F8) | L | P | 1963 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8267 | P00451 (F8) | S | I | 1965 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8268 | P00451 (F8) | M | I | 1966 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8269 | P00451 (F8) | M | V | 1966 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8270 | P00451 (F8) | G | D | 1967 | rs111033615 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8271 | P00451 (F8) | S | R | 1968 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8272 | P00451 (F8) | N | T | 1971 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8273 | P00451 (F8) | H | L | 1973 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8274 | P00451 (F8) | G | V | 1979 | rs137852450 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8275 | P00451 (F8) | H | P | 1980 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8276 | P00451 (F8) | H | Y | 1980 | rs137852451 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8277 | P00451 (F8) | F | I | 1982 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8278 | P00451 (F8) | R | Q | 1985 | rs1490417405 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8279 | P00451 (F8) | L | P | 1994 | rs1367630608 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8280 | P00451 (F8) | Y | C | 1998 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8281 | P00451 (F8) | G | A | 2000 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8282 | P00451 (F8) | T | R | 2004 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8283 | P00451 (F8) | M | I | 2007 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8284 | P00451 (F8) | G | R | 2013 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8285 | P00451 (F8) | W | C | 2015 | rs1190563629 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8286 | P00451 (F8) | R | P | 2016 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8287 | P00451 (F8) | R | W | 2016 | rs137852453 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8288 | P00451 (F8) | E | G | 2018 | rs1406262850 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8289 | P00451 (F8) | G | D | 2022 | rs1320622042 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8290 | P00451 (F8) | G | R | 2028 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8291 | P00451 (F8) | S | N | 2030 | rs369414658 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8292 | P00451 (F8) | V | A | 2035 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8293 | P00451 (F8) | Y | C | 2036 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8294 | P00451 (F8) | N | S | 2038 | rs137852454 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8295 | P00451 (F8) | C | Y | 2040 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8296 | P00451 (F8) | G | E | 2045 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8297 | P00451 (F8) | G | V | 2045 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8298 | P00451 (F8) | I | S | 2051 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8299 | P00451 (F8) | I | N | 2056 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8300 | P00451 (F8) | A | P | 2058 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8301 | P00451 (F8) | W | R | 2065 | rs137852455 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8302 | P00451 (F8) | P | L | 2067 | rs1348849974 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8303 | P00451 (F8) | A | V | 2070 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8304 | P00451 (F8) | S | N | 2082 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8305 | P00451 (F8) | S | F | 2088 | rs137852456 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8306 | P00451 (F8) | D | G | 2093 | rs137852457 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8307 | P00451 (F8) | D | Y | 2093 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8308 | P00451 (F8) | H | D | 2101 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8309 | P00451 (F8) | T | N | 2105 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8310 | P00451 (F8) | Q | E | 2106 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8311 | P00451 (F8) | Q | P | 2106 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8312 | P00451 (F8) | Q | R | 2106 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8313 | P00451 (F8) | G | S | 2107 | rs1267586059 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8314 | P00451 (F8) | R | C | 2109 | rs1475665992 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8315 | P00451 (F8) | I | F | 2117 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8316 | P00451 (F8) | I | S | 2117 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8317 | P00451 (F8) | Q | R | 2119 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8318 | P00451 (F8) | F | C | 2120 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8319 | P00451 (F8) | F | L | 2120 | rs137852458 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8320 | P00451 (F8) | Y | C | 2124 | rs137852459 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8321 | P00451 (F8) | R | P | 2135 | rs137852366 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8322 | P00451 (F8) | S | Y | 2138 | rs137852460 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8323 | P00451 (F8) | T | N | 2141 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8324 | P00451 (F8) | M | V | 2143 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8325 | P00451 (F8) | F | C | 2145 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8326 | P00451 (F8) | N | S | 2148 | rs1321311878 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8327 | P00451 (F8) | N | D | 2157 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8328 | P00451 (F8) | P | L | 2162 | rs1450770782 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8329 | P00451 (F8) | R | C | 2169 | rs782641941 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8330 | P00451 (F8) | R | H | 2169 | rs137852461 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8331 | P00451 (F8) | P | L | 2172 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8332 | P00451 (F8) | P | Q | 2172 | rs137852462 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8333 | P00451 (F8) | P | R | 2172 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8334 | P00451 (F8) | T | A | 2173 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8335 | P00451 (F8) | T | I | 2173 | rs137852463 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8336 | P00451 (F8) | H | D | 2174 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8337 | P00451 (F8) | R | C | 2178 | rs137852464 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8338 | P00451 (F8) | R | H | 2178 | rs137852465 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8339 | P00451 (F8) | R | L | 2178 | rs137852465 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8340 | P00451 (F8) | R | C | 2182 | rs137852467 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8341 | P00451 (F8) | R | H | 2182 | rs137852466 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8342 | P00451 (F8) | R | P | 2182 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8343 | P00451 (F8) | M | R | 2183 | rs1405473814 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8344 | P00451 (F8) | M | V | 2183 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8345 | P00451 (F8) | L | S | 2185 | rs137852365 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8346 | P00451 (F8) | L | W | 2185 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8347 | P00451 (F8) | S | I | 2192 | rs782098979 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8348 | P00451 (F8) | C | G | 2193 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8349 | P00451 (F8) | P | R | 2196 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8350 | P00451 (F8) | G | V | 2198 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8351 | P00451 (F8) | E | D | 2200 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8352 | P00451 (F8) | I | T | 2204 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8353 | P00451 (F8) | I | N | 2209 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8354 | P00451 (F8) | A | P | 2211 | rs137852468 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8355 | P00451 (F8) | A | P | 2220 | rs782548763 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8356 | P00451 (F8) | P | L | 2224 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8357 | P00451 (F8) | R | G | 2228 | rs137852355 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8358 | P00451 (F8) | R | L | 2228 | rs137852358 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8359 | P00451 (F8) | R | P | 2228 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8360 | P00451 (F8) | R | Q | 2228 | rs137852358 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8361 | P00451 (F8) | L | F | 2229 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8362 | P00451 (F8) | V | M | 2242 | rs782654096 | Benign |
8363 | P00451 (F8) | W | C | 2248 | rs137852469 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8364 | P00451 (F8) | W | S | 2248 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8365 | P00451 (F8) | V | A | 2251 | rs782479558 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8366 | P00451 (F8) | V | E | 2251 | rs782479558 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8367 | P00451 (F8) | M | V | 2257 | rs1800297 | Benign |
8368 | P00451 (F8) | T | A | 2264 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8369 | P00451 (F8) | Q | R | 2265 | rs137852470 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8370 | P00451 (F8) | F | C | 2279 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8371 | P00451 (F8) | F | I | 2279 | rs782717799 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8372 | P00451 (F8) | I | T | 2281 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8373 | P00451 (F8) | D | G | 2286 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8374 | P00451 (F8) | W | L | 2290 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8375 | P00451 (F8) | G | V | 2304 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8376 | P00451 (F8) | D | A | 2307 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8377 | P00451 (F8) | P | L | 2319 | rs137852472 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8378 | P00451 (F8) | P | S | 2319 | rs137852374 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8379 | P00451 (F8) | R | C | 2323 | rs137852473 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8380 | P00451 (F8) | R | G | 2323 | rs137852473 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8381 | P00451 (F8) | R | H | 2323 | rs137852474 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8382 | P00451 (F8) | R | L | 2323 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8383 | P00451 (F8) | R | G | 2326 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8384 | P00451 (F8) | R | L | 2326 | rs137852360 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8385 | P00451 (F8) | R | P | 2326 | rs137852360 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8386 | P00451 (F8) | R | Q | 2326 | rs137852360 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8387 | P00451 (F8) | Q | P | 2330 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8388 | P00451 (F8) | W | R | 2332 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8389 | P00451 (F8) | I | F | 2336 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8390 | P00451 (F8) | R | T | 2339 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8391 | P00451 (F8) | G | C | 2344 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8392 | P00451 (F8) | G | D | 2344 | rs1557271042 | Disease: Hemophilia A (HEMA) [MIM:306700] |
8393 | P00451 (F8) | G | S | 2344 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8394 | P00451 (F8) | C | S | 2345 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8395 | P00451 (F8) | C | Y | 2345 | - | Disease: Hemophilia A (HEMA) [MIM:306700] |
8396 | P00480 (OTC) | R | Q | 26 | rs68031618 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8397 | P00480 (OTC) | G | C | 39 | rs72554306 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8398 | P00480 (OTC) | R | C | 40 | rs72554307 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8399 | P00480 (OTC) | R | H | 40 | rs72554308 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8400 | P00480 (OTC) | L | F | 43 | rs72554309 | Benign |
8401 | P00480 (OTC) | T | I | 44 | rs72554310 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8402 | P00480 (OTC) | L | P | 45 | rs72554312 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8403 | P00480 (OTC) | L | V | 45 | rs72554311 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8404 | P00480 (OTC) | K | R | 46 | rs1800321 | Benign |
8405 | P00480 (OTC) | N | I | 47 | rs67939655 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8406 | P00480 (OTC) | G | R | 50 | rs67486158 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8407 | P00480 (OTC) | Y | D | 55 | rs72554319 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8408 | P00480 (OTC) | M | T | 56 | rs72554320 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8409 | P00480 (OTC) | S | L | 60 | rs72554323 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8410 | P00480 (OTC) | L | P | 63 | rs72554324 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8411 | P00480 (OTC) | G | E | 79 | rs72554331 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8412 | P00480 (OTC) | G | D | 83 | rs72554337 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8413 | P00480 (OTC) | G | R | 83 | rs72554336 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8414 | P00480 (OTC) | E | K | 87 | rs72554338 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8415 | P00480 (OTC) | K | N | 88 | rs72554339 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8416 | P00480 (OTC) | S | R | 90 | rs72554342 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8417 | P00480 (OTC) | R | Q | 92 | rs66550389 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8418 | P00480 (OTC) | T | A | 93 | rs72554344 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8419 | P00480 (OTC) | R | T | 94 | rs72554345 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8420 | P00480 (OTC) | G | D | 100 | rs72554349 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8421 | P00480 (OTC) | F | L | 101 | rs1133135 | Benign |
8422 | P00480 (OTC) | A | E | 102 | rs72554350 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8423 | P00480 (OTC) | L | P | 111 | rs1800324 | Benign |
8424 | P00480 (OTC) | H | L | 117 | rs66539573 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8425 | P00480 (OTC) | H | R | 117 | rs66539573 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8426 | P00480 (OTC) | T | M | 125 | rs72554356 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8427 | P00480 (OTC) | D | G | 126 | rs72554358 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8428 | P00480 (OTC) | R | H | 129 | rs66656800 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8429 | P00480 (OTC) | L | S | 139 | rs72556259 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8430 | P00480 (OTC) | A | P | 140 | rs72556260 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8431 | P00480 (OTC) | R | P | 141 | rs68026851 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8432 | P00480 (OTC) | R | Q | 141 | rs68026851 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8433 | P00480 (OTC) | L | F | 148 | rs66741318 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8434 | P00480 (OTC) | I | T | 159 | rs72556269 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8435 | P00480 (OTC) | I | S | 160 | rs67954347 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8436 | P00480 (OTC) | N | S | 161 | rs72556271 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8437 | P00480 (OTC) | G | R | 162 | rs66626662 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8438 | P00480 (OTC) | H | Q | 168 | rs72556276 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8439 | P00480 (OTC) | H | R | 168 | rs66867430 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8440 | P00480 (OTC) | I | F | 172 | rs72556279 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8441 | P00480 (OTC) | I | M | 172 | rs72556280 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8442 | P00480 (OTC) | A | P | 174 | rs72556281 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8443 | P00480 (OTC) | D | V | 175 | rs68033093 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8444 | P00480 (OTC) | Y | C | 176 | rs72556283 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8445 | P00480 (OTC) | T | M | 178 | rs72556284 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8446 | P00480 (OTC) | Q | H | 180 | rs72556287 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8447 | P00480 (OTC) | E | G | 181 | rs72556290 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8448 | P00480 (OTC) | H | L | 182 | rs72556291 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8449 | P00480 (OTC) | Y | C | 183 | rs72556293 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8450 | P00480 (OTC) | Y | D | 183 | rs72556292 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8451 | P00480 (OTC) | G | R | 188 | rs72556294 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8452 | P00480 (OTC) | G | V | 188 | rs72556295 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8453 | P00480 (OTC) | L | F | 191 | rs72556296 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8454 | P00480 (OTC) | S | R | 192 | rs72556298 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8455 | P00480 (OTC) | G | R | 195 | rs67294955 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8456 | P00480 (OTC) | D | V | 196 | rs72556300 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8457 | P00480 (OTC) | D | Y | 196 | rs66642398 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8458 | P00480 (OTC) | G | E | 197 | rs72556302 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8459 | P00480 (OTC) | G | R | 197 | rs72556301 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8460 | P00480 (OTC) | N | K | 198 | rs72558404 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8461 | P00480 (OTC) | L | P | 201 | rs72558407 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8462 | P00480 (OTC) | H | Y | 202 | rs72558408 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8463 | P00480 (OTC) | S | C | 203 | rs72558410 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8464 | P00480 (OTC) | M | I | 206 | rs72558413 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8465 | P00480 (OTC) | M | R | 206 | rs72558412 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8466 | P00480 (OTC) | S | R | 207 | rs72558415 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8467 | P00480 (OTC) | A | T | 208 | rs72558416 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8468 | P00480 (OTC) | A | V | 209 | rs72558417 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8469 | P00480 (OTC) | M | K | 213 | - | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8470 | P00480 (OTC) | H | Y | 214 | rs72558420 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8471 | P00480 (OTC) | Q | E | 216 | rs72558423 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8472 | P00480 (OTC) | P | A | 220 | rs72558425 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8473 | P00480 (OTC) | P | L | 225 | rs67120076 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8474 | P00480 (OTC) | P | R | 225 | rs67120076 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8475 | P00480 (OTC) | P | T | 225 | rs72558428 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8476 | P00480 (OTC) | T | I | 242 | rs72558435 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8477 | P00480 (OTC) | L | Q | 244 | rs72558436 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8478 | P00480 (OTC) | T | K | 247 | rs72558437 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8479 | P00480 (OTC) | H | P | 255 | rs72558440 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8480 | P00480 (OTC) | T | K | 262 | rs67333670 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8481 | P00480 (OTC) | D | G | 263 | rs72558443 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8482 | P00480 (OTC) | D | N | 263 | rs72558442 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8483 | P00480 (OTC) | T | A | 264 | rs72558444 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8484 | P00480 (OTC) | T | I | 264 | rs67156896 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8485 | P00480 (OTC) | W | L | 265 | rs72558446 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8486 | P00480 (OTC) | S | R | 267 | rs72558448 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8487 | P00480 (OTC) | M | T | 268 | rs72558449 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8488 | P00480 (OTC) | G | E | 269 | rs72558450 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8489 | P00480 (OTC) | Q | R | 270 | rs1800328 | Benign |
8490 | P00480 (OTC) | R | Q | 277 | rs66724222 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8491 | P00480 (OTC) | R | W | 277 | rs72558454 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8492 | P00480 (OTC) | L | F | 301 | rs72558462 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8493 | P00480 (OTC) | H | L | 302 | rs67993095 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8494 | P00480 (OTC) | H | Q | 302 | rs67870244 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8495 | P00480 (OTC) | H | Y | 302 | rs72558463 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8496 | P00480 (OTC) | C | R | 303 | rs67468335 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8497 | P00480 (OTC) | C | Y | 303 | rs72558464 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8498 | P00480 (OTC) | L | F | 304 | rs72558465 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8499 | P00480 (OTC) | P | H | 305 | rs67501347 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8500 | P00480 (OTC) | R | L | 320 | rs72558474 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8501 | P00480 (OTC) | E | K | 326 | rs72558476 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8502 | P00480 (OTC) | R | G | 330 | rs72558478 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8503 | P00480 (OTC) | T | A | 333 | - | Benign |
8504 | P00480 (OTC) | A | S | 336 | rs72558486 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8505 | P00480 (OTC) | V | L | 337 | rs72558487 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8506 | P00480 (OTC) | V | L | 339 | rs72558488 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8507 | P00480 (OTC) | S | P | 340 | rs72558489 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8508 | P00480 (OTC) | L | P | 341 | rs72558490 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8509 | P00480 (OTC) | T | K | 343 | rs72558491 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8510 | P00480 (OTC) | Y | C | 345 | rs72558492 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8511 | P00480 (OTC) | Y | D | 345 | rs66469337 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8512 | P00480 (OTC) | F | C | 354 | rs72558495 | Disease: Ornithine carbamoyltra nsferase deficiency (OTCD) [MIM:311250] |
8513 | P00488 (F13A1) | V | L | 35 | rs5985 | Benign |
8514 | P00488 (F13A1) | R | Q | 38 | rs759324596 | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8515 | P00488 (F13A1) | V | I | 40 | rs3024472 | Benign |
8516 | P00488 (F13A1) | P | L | 167 | rs746272012 | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8517 | P00488 (F13A1) | Y | C | 168 | rs779361778 | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8518 | P00488 (F13A1) | R | Q | 172 | rs376147795 | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8519 | P00488 (F13A1) | Y | F | 205 | rs3024477 | Benign |
8520 | P00488 (F13A1) | G | V | 274 | - | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8521 | P00488 (F13A1) | P | R | 290 | - | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8522 | P00488 (F13A1) | H | Y | 343 | - | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8523 | P00488 (F13A1) | Q | R | 416 | - | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8524 | P00488 (F13A1) | L | P | 530 | - | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8525 | P00488 (F13A1) | R | Q | 541 | rs367679357 | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8526 | P00488 (F13A1) | T | I | 551 | rs5984 | Benign |
8527 | P00488 (F13A1) | P | L | 565 | rs5982 | Benign |
8528 | P00488 (F13A1) | L | Q | 589 | rs5983 | Benign |
8529 | P00488 (F13A1) | G | S | 593 | rs138754417 | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8530 | P00488 (F13A1) | Q | K | 602 | rs757172838 | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8531 | P00488 (F13A1) | R | H | 612 | rs369187276 | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8532 | P00488 (F13A1) | T | I | 650 | rs17852475 | Benign |
8533 | P00488 (F13A1) | V | I | 651 | rs5987 | Benign |
8534 | P00488 (F13A1) | Q | E | 652 | rs5988 | Benign |
8535 | P00488 (F13A1) | D | G | 669 | rs375129902 | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8536 | P00488 (F13A1) | R | H | 682 | rs121913064 | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8537 | P00488 (F13A1) | R | Q | 704 | rs377484555 | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8538 | P00488 (F13A1) | R | G | 716 | rs778206273 | Disease: Factor XIII subunit A deficiency (FA13AD) [MIM:613225] |
8539 | P00491 (PNP) | G | S | 51 | rs1049564 | Benign |
8540 | P00491 (PNP) | E | K | 89 | rs104894453 | Disease: Purine nucleoside phosphorylas e deficiency (PNPD) [MIM:613179] |
8541 | P00491 (PNP) | D | G | 128 | rs104894450 | Disease: Purine nucleoside phosphorylas e deficiency (PNPD) [MIM:613179] |
8542 | P00491 (PNP) | A | P | 174 | rs104894454 | Disease: Purine nucleoside phosphorylas e deficiency (PNPD) [MIM:613179] |
8543 | P00491 (PNP) | Y | C | 192 | rs104894452 | Disease: Purine nucleoside phosphorylas e deficiency (PNPD) [MIM:613179] |
8544 | P00491 (PNP) | R | P | 234 | rs104894451 | Disease: Purine nucleoside phosphorylas e deficiency (PNPD) [MIM:613179] |
8545 | P00492 (HPRT1) | G | D | 7 | - | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8546 | P00492 (HPRT1) | V | G | 8 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8547 | P00492 (HPRT1) | G | D | 16 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8548 | P00492 (HPRT1) | G | S | 16 | rs137852499 | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8549 | P00492 (HPRT1) | D | V | 20 | - | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8550 | P00492 (HPRT1) | C | F | 23 | - | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8551 | P00492 (HPRT1) | C | W | 23 | - | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8552 | P00492 (HPRT1) | L | P | 41 | rs137852480 | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8553 | P00492 (HPRT1) | I | F | 42 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8554 | P00492 (HPRT1) | I | T | 42 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8555 | P00492 (HPRT1) | D | Y | 44 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8556 | P00492 (HPRT1) | R | K | 45 | rs137852491 | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8557 | P00492 (HPRT1) | R | H | 48 | rs387906725 | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8558 | P00492 (HPRT1) | A | P | 50 | rs1556026984 | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8559 | P00492 (HPRT1) | A | V | 50 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8560 | P00492 (HPRT1) | R | G | 51 | rs137852494 | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8561 | P00492 (HPRT1) | R | P | 51 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8562 | P00492 (HPRT1) | D | G | 52 | rs137852502 | Benign |
8563 | P00492 (HPRT1) | V | A | 53 | - | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8564 | P00492 (HPRT1) | V | M | 53 | - | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8565 | P00492 (HPRT1) | M | L | 54 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8566 | P00492 (HPRT1) | M | T | 57 | rs137852495 | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8567 | P00492 (HPRT1) | G | R | 58 | rs137852500 | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8568 | P00492 (HPRT1) | H | R | 60 | rs1228634091 | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8569 | P00492 (HPRT1) | A | P | 64 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8570 | P00492 (HPRT1) | L | P | 65 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8571 | P00492 (HPRT1) | G | E | 70 | rs137852487 | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8572 | P00492 (HPRT1) | G | R | 71 | rs137852488 | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8573 | P00492 (HPRT1) | Y | C | 72 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8574 | P00492 (HPRT1) | F | L | 74 | rs137852481 | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8575 | P00492 (HPRT1) | L | Q | 78 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8576 | P00492 (HPRT1) | L | V | 78 | rs137852501 | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8577 | P00492 (HPRT1) | D | V | 80 | rs137852478 | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8578 | P00492 (HPRT1) | S | R | 104 | rs137852485 | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8579 | P00492 (HPRT1) | S | L | 110 | rs137852482 | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8580 | P00492 (HPRT1) | T | P | 124 | - | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8581 | P00492 (HPRT1) | V | D | 130 | rs137852483 | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8582 | P00492 (HPRT1) | L | S | 131 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8583 | P00492 (HPRT1) | I | M | 132 | rs137852477 | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8584 | P00492 (HPRT1) | I | T | 132 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8585 | P00492 (HPRT1) | D | G | 135 | - | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8586 | P00492 (HPRT1) | M | K | 143 | rs137852496 | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8587 | P00492 (HPRT1) | L | P | 147 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8588 | P00492 (HPRT1) | K | E | 159 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8589 | P00492 (HPRT1) | A | S | 161 | rs137852484 | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8590 | P00492 (HPRT1) | S | R | 162 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8591 | P00492 (HPRT1) | T | I | 168 | rs137852498 | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8592 | P00492 (HPRT1) | P | L | 176 | rs137852493 | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8593 | P00492 (HPRT1) | D | V | 177 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8594 | P00492 (HPRT1) | D | Y | 177 | rs137852492 | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8595 | P00492 (HPRT1) | I | T | 183 | - | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8596 | P00492 (HPRT1) | D | G | 185 | - | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8597 | P00492 (HPRT1) | A | V | 192 | - | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8598 | P00492 (HPRT1) | D | E | 194 | rs137852504 | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8599 | P00492 (HPRT1) | D | N | 194 | rs267606863 | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8600 | P00492 (HPRT1) | Y | C | 195 | - | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8601 | P00492 (HPRT1) | F | V | 199 | rs137852486 | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8602 | P00492 (HPRT1) | D | G | 201 | rs137852479 | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8603 | P00492 (HPRT1) | D | N | 201 | - | Disease: Gout HPRT-related (GOUT-HPRT) [MIM:300323] |
8604 | P00492 (HPRT1) | D | Y | 201 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8605 | P00492 (HPRT1) | H | D | 204 | rs137852490 | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8606 | P00492 (HPRT1) | H | R | 204 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8607 | P00492 (HPRT1) | C | Y | 206 | - | Disease: Lesch-Nyhan syndrome (LNS) [MIM:300322] |
8608 | P00505 (GOT2) | A | S | 2 | rs11558171 | Benign |
8609 | P00505 (GOT2) | G | S | 188 | rs11076256 | Benign |
8610 | P00505 (GOT2) | R | G | 262 | - | Disease: Epileptic encephalopat hy, early infantile, 82 (EIEE82) [MIM:618721] |
8611 | P00505 (GOT2) | V | G | 346 | rs30842 | Benign |
8612 | P00505 (GOT2) | V | A | 428 | rs17849335 | Benign |
8613 | P00519 (ABL1) | L | P | 140 | rs1064152 | Benign |
8614 | P00519 (ABL1) | Y | C | 226 | rs1060499547 | Disease: Congenital heart defects and skeletal malformation s syndrome (CHDSKM) [MIM:617602] |
8615 | P00519 (ABL1) | K | R | 247 | rs34549764 | Benign |
8616 | P00519 (ABL1) | A | T | 337 | rs1060499548 | Disease: Congenital heart defects and skeletal malformation s syndrome (CHDSKM) [MIM:617602] |
8617 | P00519 (ABL1) | G | V | 706 | rs34634745 | Benign |
8618 | P00519 (ABL1) | P | L | 810 | rs2229071 | Benign |
8619 | P00519 (ABL1) | T | P | 852 | - | Benign |
8620 | P00519 (ABL1) | P | S | 900 | rs35266696 | Benign |
8621 | P00519 (ABL1) | S | P | 968 | rs1064165 | Benign |
8622 | P00519 (ABL1) | S | L | 972 | rs2229067 | Benign |
8623 | P00533 (EGFR) | R | Q | 98 | rs17289589 | Benign |
8624 | P00533 (EGFR) | P | R | 266 | rs17336639 | Benign |
8625 | P00533 (EGFR) | G | D | 428 | rs606231253 | Disease: Inflammatory skin and bowel disease, neonatal, 2 (NISBD2) [MIM:616069] |
8626 | P00533 (EGFR) | R | K | 521 | rs2227983 | Benign |
8627 | P00533 (EGFR) | V | I | 674 | rs17337079 | Benign |
8628 | P00533 (EGFR) | E | A | 709 | rs397517085 | Benign |
8629 | P00533 (EGFR) | E | G | 709 | rs397517085 | Benign |
8630 | P00533 (EGFR) | E | K | 709 | rs727504256 | Benign |
8631 | P00533 (EGFR) | G | A | 719 | rs121913428 | Benign |
8632 | P00533 (EGFR) | G | C | 719 | rs28929495 | Benign |
8633 | P00533 (EGFR) | G | D | 719 | rs121913428 | Benign |
8634 | P00533 (EGFR) | G | S | 719 | rs28929495 | Benign |
8635 | P00533 (EGFR) | G | S | 724 | rs1051753269 | Benign |
8636 | P00533 (EGFR) | E | K | 734 | rs121913420 | Benign |
8637 | P00533 (EGFR) | S | I | 768 | rs121913465 | Benign |
8638 | P00533 (EGFR) | V | M | 769 | rs147149347 | Benign |
8639 | P00533 (EGFR) | T | M | 790 | rs121434569 | Benign |
8640 | P00533 (EGFR) | L | V | 833 | rs397517126 | Benign |
8641 | P00533 (EGFR) | V | L | 834 | rs397517127 | Benign |
8642 | P00533 (EGFR) | H | L | 835 | rs397517128 | Benign |
8643 | P00533 (EGFR) | L | V | 838 | rs864621996 | Benign |
8644 | P00533 (EGFR) | L | M | 858 | rs121913443 | Benign |
8645 | P00533 (EGFR) | L | R | 858 | rs121434568 | Benign |
8646 | P00533 (EGFR) | L | Q | 861 | rs121913444 | Benign |
8647 | P00533 (EGFR) | R | G | 962 | rs17337451 | Benign |
8648 | P00533 (EGFR) | H | P | 988 | rs17290699 | Benign |
8649 | P00533 (EGFR) | L | R | 1034 | rs34352568 | Benign |
8650 | P00533 (EGFR) | A | V | 1210 | rs35918369 | Benign |
8651 | P00540 (MOS) | R | L | 96 | rs34532635 | Benign |
8652 | P00540 (MOS) | A | S | 105 | rs35392772 | Benign |
8653 | P00540 (MOS) | S | P | 300 | rs56300224 | Benign |
8654 | P00558 (PGK1) | L | P | 88 | rs137852531 | Disease: Phosphoglyce rate kinase 1 deficiency (PGK1D) [MIM:300653] |
8655 | P00558 (PGK1) | G | V | 158 | rs137852532 | Disease: Phosphoglyce rate kinase 1 deficiency (PGK1D) [MIM:300653] |
8656 | P00558 (PGK1) | D | V | 164 | rs137852538 | Disease: Phosphoglyce rate kinase 1 deficiency (PGK1D) [MIM:300653] |
8657 | P00558 (PGK1) | R | P | 206 | rs137852529 | Disease: Phosphoglyce rate kinase 1 deficiency (PGK1D) [MIM:300653] |
8658 | P00558 (PGK1) | E | A | 252 | - | Disease: Phosphoglyce rate kinase 1 deficiency (PGK1D) [MIM:300653] |
8659 | P00558 (PGK1) | V | M | 266 | rs431905501 | Disease: Phosphoglyce rate kinase 1 deficiency (PGK1D) [MIM:300653] |
8660 | P00558 (PGK1) | D | N | 268 | rs137852528 | Benign |
8661 | P00558 (PGK1) | D | V | 285 | rs137852535 | Disease: Phosphoglyce rate kinase 1 deficiency (PGK1D) [MIM:300653] |
8662 | P00558 (PGK1) | D | N | 315 | - | Disease: Phosphoglyce rate kinase 1 deficiency (PGK1D) [MIM:300653] |
8663 | P00558 (PGK1) | C | R | 316 | rs137852533 | Disease: Phosphoglyce rate kinase 1 deficiency (PGK1D) [MIM:300653] |
8664 | P00558 (PGK1) | T | N | 352 | rs137852530 | Benign |
8665 | P00568 (AK1) | G | R | 40 | rs137853204 | Disease: Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] |
8666 | P00568 (AK1) | G | R | 64 | rs137853205 | Disease: Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] |
8667 | P00568 (AK1) | E | Q | 123 | rs8192462 | Benign |
8668 | P00568 (AK1) | R | W | 128 | rs104894101 | Disease: Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] |
8669 | P00568 (AK1) | Y | C | 164 | rs137853203 | Disease: Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] |
8670 | P00709 (LALBA) | I | V | 46 | rs2232565 | Benign |
8671 | P00734 (F2) | E | G | 72 | - | Disease: Factor II deficiency (FA2D) [MIM:613679] |
8672 | P00734 (F2) | T | M | 165 | rs5896 | Benign |
8673 | P00734 (F2) | E | K | 200 | rs62623459 | Disease: Factor II deficiency (FA2D) [MIM:613679] |
8674 | P00734 (F2) | R | C | 314 | rs121918477 | Disease: Factor II deficiency (FA2D) [MIM:613679] |
8675 | P00734 (F2) | R | H | 314 | rs754231232 | Disease: Factor II deficiency (FA2D) [MIM:613679] |
8676 | P00734 (F2) | M | T | 380 | rs121918481 | Disease: Factor II deficiency (FA2D) [MIM:613679] |
8677 | P00734 (F2) | P | T | 386 | rs5897 | Benign |
8678 | P00734 (F2) | R | C | 425 | rs121918479 | Disease: Factor II deficiency (FA2D) [MIM:613679] |
8679 | P00734 (F2) | R | H | 431 | rs121918482 | Disease: Factor II deficiency (FA2D) [MIM:613679] |
8680 | P00734 (F2) | R | W | 461 | rs121918478 | Disease: Factor II deficiency (FA2D) [MIM:613679] |
8681 | P00734 (F2) | E | A | 509 | - | Disease: Factor II deficiency (FA2D) [MIM:613679] |
8682 | P00734 (F2) | E | Q | 532 | - | Benign |
8683 | P00734 (F2) | G | V | 601 | rs121918480 | Disease: Factor II deficiency (FA2D) [MIM:613679] |
8684 | P00736 (C1R) | V | D | 50 | - | Disease: Ehlers- Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] |
8685 | P00736 (C1R) | Y | H | 131 | rs1278295523 | Benign |
8686 | P00736 (C1R) | S | L | 152 | rs1801046 | Benign |
8687 | P00736 (C1R) | H | Y | 163 | rs144141261 | Benign |
8688 | P00736 (C1R) | E | K | 184 | rs1126605 | Benign |
8689 | P00736 (C1R) | T | R | 186 | rs4519167 | Benign |
8690 | P00736 (C1R) | G | R | 261 | rs3813728 | Benign |
8691 | P00736 (C1R) | Y | C | 302 | rs1057519576 | Disease: Ehlers- Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] |
8692 | P00736 (C1R) | C | W | 309 | rs769707492 | Disease: Ehlers- Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] |
8693 | P00736 (C1R) | C | R | 338 | rs1057519577 | Disease: Ehlers- Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] |
8694 | P00736 (C1R) | C | F | 358 | rs1057518645 | Disease: Ehlers- Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] |
8695 | P00736 (C1R) | C | W | 371 | rs1057519579 | Disease: Ehlers- Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] |
8696 | P00738 (HP) | N | D | 129 | rs199926732 | Benign |
8697 | P00738 (HP) | E | K | 130 | rs200877317 | Benign |
8698 | P00738 (HP) | I | T | 247 | rs104894517 | Disease: Anhaptoglobi nemia (AHP) [MIM:614081] |
8699 | P00738 (HP) | D | H | 397 | rs189115161 | Benign |
8700 | P00739 (HPR) | T | M | 27 | rs11642506 | Benign |
8701 | P00739 (HPR) | N | H | 42 | rs152832 | Benign |
8702 | P00739 (HPR) | R | K | 58 | rs152833 | Benign |
8703 | P00739 (HPR) | A | V | 156 | rs1049933 | Benign |
8704 | P00739 (HPR) | R | K | 203 | rs2021171 | Benign |
8705 | P00739 (HPR) | V | A | 283 | rs1065360 | Benign |
8706 | P00739 (HPR) | H | D | 339 | rs12646 | Benign |
8707 | P00740 (F9) | I | F | 7 | rs150190385 | Benign |
8708 | P00740 (F9) | I | N | 17 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8709 | P00740 (F9) | C | R | 28 | rs387906481 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8710 | P00740 (F9) | C | Y | 28 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8711 | P00740 (F9) | V | I | 30 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8712 | P00740 (F9) | A | T | 37 | rs367569299 | Benign |
8713 | P00740 (F9) | R | L | 43 | rs1275708479 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8714 | P00740 (F9) | R | Q | 43 | rs1275708479 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8715 | P00740 (F9) | R | W | 43 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8716 | P00740 (F9) | K | N | 45 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8717 | P00740 (F9) | R | S | 46 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8718 | P00740 (F9) | R | T | 46 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8719 | P00740 (F9) | N | I | 48 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8720 | P00740 (F9) | S | P | 49 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8721 | P00740 (F9) | L | S | 52 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8722 | P00740 (F9) | E | A | 53 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8723 | P00740 (F9) | E | G | 54 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8724 | P00740 (F9) | F | C | 55 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8725 | P00740 (F9) | G | A | 58 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8726 | P00740 (F9) | G | R | 58 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8727 | P00740 (F9) | E | V | 66 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8728 | P00740 (F9) | E | K | 67 | rs1410080079 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8729 | P00740 (F9) | F | S | 71 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8730 | P00740 (F9) | E | K | 73 | rs137852225 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8731 | P00740 (F9) | E | V | 73 | rs137852226 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8732 | P00740 (F9) | R | Q | 75 | rs137852228 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8733 | P00740 (F9) | E | D | 79 | rs137852229 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8734 | P00740 (F9) | T | R | 84 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8735 | P00740 (F9) | Y | C | 91 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8736 | P00740 (F9) | D | G | 93 | rs137852230 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8737 | P00740 (F9) | Q | P | 96 | rs137852231 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8738 | P00740 (F9) | C | S | 97 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8739 | P00740 (F9) | P | R | 101 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8740 | P00740 (F9) | C | R | 102 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8741 | P00740 (F9) | G | D | 106 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8742 | P00740 (F9) | G | S | 106 | rs137852233 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8743 | P00740 (F9) | C | S | 108 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8744 | P00740 (F9) | D | N | 110 | rs137852274 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8745 | P00740 (F9) | I | S | 112 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8746 | P00740 (F9) | N | K | 113 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8747 | P00740 (F9) | Y | C | 115 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8748 | P00740 (F9) | C | F | 119 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8749 | P00740 (F9) | C | R | 119 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8750 | P00740 (F9) | E | K | 124 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8751 | P00740 (F9) | G | E | 125 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8752 | P00740 (F9) | G | R | 125 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8753 | P00740 (F9) | G | V | 125 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8754 | P00740 (F9) | C | Y | 134 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8755 | P00740 (F9) | I | T | 136 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8756 | P00740 (F9) | G | D | 139 | rs1216516070 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8757 | P00740 (F9) | G | S | 139 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8758 | P00740 (F9) | C | F | 155 | rs1330705989 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8759 | P00740 (F9) | G | E | 160 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8760 | P00740 (F9) | Q | H | 167 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8761 | P00740 (F9) | S | C | 169 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8762 | P00740 (F9) | C | F | 170 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8763 | P00740 (F9) | C | R | 178 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8764 | P00740 (F9) | C | W | 178 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8765 | P00740 (F9) | R | C | 191 | rs137852237 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8766 | P00740 (F9) | R | H | 191 | rs137852238 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8767 | P00740 (F9) | T | A | 194 | rs6048 | Benign |
8768 | P00740 (F9) | R | G | 226 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8769 | P00740 (F9) | R | Q | 226 | rs137852241 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8770 | P00740 (F9) | R | W | 226 | rs137852240 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8771 | P00740 (F9) | V | D | 227 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8772 | P00740 (F9) | V | F | 227 | rs137852242 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8773 | P00740 (F9) | V | F | 228 | rs137852243 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8774 | P00740 (F9) | V | L | 228 | rs137852243 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8775 | P00740 (F9) | Q | H | 241 | rs1182648920 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8776 | P00740 (F9) | Q | K | 241 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8777 | P00740 (F9) | C | S | 252 | rs267606792 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8778 | P00740 (F9) | C | Y | 252 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8779 | P00740 (F9) | G | E | 253 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8780 | P00740 (F9) | G | R | 253 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8781 | P00740 (F9) | A | T | 265 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8782 | P00740 (F9) | C | W | 268 | rs137852246 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8783 | P00740 (F9) | A | T | 279 | rs137852247 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8784 | P00740 (F9) | N | D | 283 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8785 | P00740 (F9) | E | V | 291 | rs137852279 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8786 | P00740 (F9) | R | G | 294 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8787 | P00740 (F9) | R | Q | 294 | rs137852249 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8788 | P00740 (F9) | H | R | 302 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8789 | P00740 (F9) | N | S | 306 | rs137852251 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8790 | P00740 (F9) | I | F | 316 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8791 | P00740 (F9) | L | R | 318 | rs1222227572 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8792 | P00740 (F9) | L | Q | 321 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8793 | P00740 (F9) | N | Y | 328 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8794 | P00740 (F9) | P | H | 333 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8795 | P00740 (F9) | P | T | 333 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8796 | P00740 (F9) | T | K | 342 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8797 | P00740 (F9) | T | M | 342 | rs137852254 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8798 | P00740 (F9) | I | L | 344 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8799 | P00740 (F9) | G | D | 351 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8800 | P00740 (F9) | W | C | 356 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8801 | P00740 (F9) | G | E | 357 | rs137852275 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8802 | P00740 (F9) | G | R | 357 | rs137852257 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8803 | P00740 (F9) | K | E | 362 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8804 | P00740 (F9) | G | W | 363 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8805 | P00740 (F9) | A | D | 366 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8806 | P00740 (F9) | R | G | 379 | rs137852258 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8807 | P00740 (F9) | R | Q | 379 | rs137852259 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8808 | P00740 (F9) | C | Y | 382 | rs1303221289 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8809 | P00740 (F9) | L | F | 383 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8810 | P00740 (F9) | L | I | 383 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8811 | P00740 (F9) | R | L | 384 | rs137852283 | Disease: Thrombophili a, X-linked, due to factor IX defect (THPH8) [MIM:300807] |
8812 | P00740 (F9) | K | E | 387 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8813 | P00740 (F9) | I | F | 390 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8814 | P00740 (F9) | M | K | 394 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8815 | P00740 (F9) | F | I | 395 | rs1175050951 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8816 | P00740 (F9) | F | L | 395 | rs1175050951 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8817 | P00740 (F9) | C | F | 396 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8818 | P00740 (F9) | C | S | 396 | rs137852273 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8819 | P00740 (F9) | A | P | 397 | rs137852281 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8820 | P00740 (F9) | R | T | 404 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8821 | P00740 (F9) | C | R | 407 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8822 | P00740 (F9) | C | S | 407 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8823 | P00740 (F9) | D | H | 410 | rs137852278 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8824 | P00740 (F9) | S | G | 411 | rs137852277 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8825 | P00740 (F9) | S | I | 411 | rs137852276 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8826 | P00740 (F9) | G | E | 412 | rs1233706534 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8827 | P00740 (F9) | G | R | 413 | rs1306658513 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8828 | P00740 (F9) | P | T | 414 | rs137852265 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8829 | P00740 (F9) | V | E | 419 | rs137852280 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8830 | P00740 (F9) | F | V | 424 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8831 | P00740 (F9) | T | P | 426 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8832 | P00740 (F9) | S | T | 430 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8833 | P00740 (F9) | W | G | 431 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8834 | P00740 (F9) | W | R | 431 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8835 | P00740 (F9) | G | S | 432 | rs1170838100 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8836 | P00740 (F9) | G | V | 432 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8837 | P00740 (F9) | E | A | 433 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8838 | P00740 (F9) | E | K | 433 | rs767828752 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8839 | P00740 (F9) | C | Y | 435 | rs1385141619 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8840 | P00740 (F9) | A | V | 436 | rs137852266 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8841 | P00740 (F9) | G | E | 442 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8842 | P00740 (F9) | G | R | 442 | rs137852267 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8843 | P00740 (F9) | I | T | 443 | rs137852268 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8844 | P00740 (F9) | R | Q | 449 | rs143018900 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8845 | P00740 (F9) | R | W | 449 | rs757996262 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8846 | P00740 (F9) | Y | C | 450 | rs1243180674 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8847 | P00740 (F9) | W | R | 453 | rs137852269 | Disease: Hemophilia B (HEMB) [MIM:306900] |
8848 | P00740 (F9) | I | T | 454 | - | Disease: Hemophilia B (HEMB) [MIM:306900] |
8849 | P00740 (F9) | T | P | 461 | rs4149751 | Benign |
8850 | P00742 (F10) | L | I | 7 | rs5963 | Benign |
8851 | P00742 (F10) | Q | H | 30 | rs5961 | Benign |
8852 | P00742 (F10) | E | G | 47 | rs121964943 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8853 | P00742 (F10) | G | V | 51 | rs751782758 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8854 | P00742 (F10) | E | G | 54 | rs121964944 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8855 | P00742 (F10) | E | K | 54 | rs121964939 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8856 | P00742 (F10) | E | Q | 72 | rs121964945 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8857 | P00742 (F10) | E | K | 91 | rs1477329751 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8858 | P00742 (F10) | C | Y | 149 | - | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8859 | P00742 (F10) | C | Y | 151 | - | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8860 | P00742 (F10) | A | T | 152 | rs3211772 | Benign |
8861 | P00742 (F10) | G | R | 192 | rs3211783 | Benign |
8862 | P00742 (F10) | G | R | 289 | rs121964946 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8863 | P00742 (F10) | E | K | 304 | rs747292771 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8864 | P00742 (F10) | D | N | 322 | rs121964942 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8865 | P00742 (F10) | R | W | 327 | rs770119164 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8866 | P00742 (F10) | V | M | 338 | rs121964947 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8867 | P00742 (F10) | E | K | 350 | rs372309538 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8868 | P00742 (F10) | T | M | 358 | rs768222784 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8869 | P00742 (F10) | G | S | 363 | - | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8870 | P00742 (F10) | R | C | 366 | rs104894392 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8871 | P00742 (F10) | S | P | 374 | rs121964941 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8872 | P00742 (F10) | V | A | 382 | - | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8873 | P00742 (F10) | P | S | 383 | rs121964940 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8874 | P00742 (F10) | C | F | 390 | rs199778916 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8875 | P00742 (F10) | C | R | 404 | - | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8876 | P00742 (F10) | G | S | 406 | rs376163818 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8877 | P00742 (F10) | G | R | 420 | rs750759634 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8878 | P00742 (F10) | G | D | 421 | rs758726161 | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8879 | P00742 (F10) | K | N | 448 | - | Disease: Factor X deficiency (FA10D) [MIM:227600] |
8880 | P00746 (CFD) | V | G | 213 | rs267606720 | Disease: Complement factor D deficiency (CFDD) [MIM:613912] |
8881 | P00746 (CFD) | C | R | 214 | rs267606721 | Disease: Complement factor D deficiency (CFDD) [MIM:613912] |
8882 | P00746 (CFD) | I | M | 248 | rs2230216 | Benign |
8883 | P00747 (PLG) | K | E | 38 | rs73015965 | Disease: Plasminogen deficiency (PLGD) [MIM:217090] |
8884 | P00747 (PLG) | I | R | 46 | rs1049573 | Benign |
8885 | P00747 (PLG) | E | K | 57 | rs4252070 | Benign |
8886 | P00747 (PLG) | H | Q | 133 | rs4252186 | Benign |
8887 | P00747 (PLG) | L | P | 147 | rs770198253 | Disease: Plasminogen deficiency (PLGD) [MIM:217090] |
8888 | P00747 (PLG) | R | H | 235 | rs121918030 | Disease: Plasminogen deficiency (PLGD) [MIM:217090] |
8889 | P00747 (PLG) | R | H | 261 | rs4252187 | Benign |
8890 | P00747 (PLG) | V | F | 374 | rs121918028 | Disease: Plasminogen deficiency (PLGD) [MIM:217090] |
8891 | P00747 (PLG) | R | W | 408 | rs4252119 | Benign |
8892 | P00747 (PLG) | K | I | 453 | rs1804181 | Benign |
8893 | P00747 (PLG) | D | N | 472 | rs4252125 | Benign |
8894 | P00747 (PLG) | A | V | 494 | rs4252128 | Benign |
8895 | P00747 (PLG) | R | W | 523 | rs4252129 | Benign |
8896 | P00747 (PLG) | R | H | 532 | - | Disease: Plasminogen deficiency (PLGD) [MIM:217090] |
8897 | P00747 (PLG) | S | P | 591 | rs121918029 | Disease: Plasminogen deficiency (PLGD) [MIM:217090] |
8898 | P00747 (PLG) | A | T | 620 | rs121918027 | Disease: Plasminogen deficiency (PLGD) [MIM:217090] |
8899 | P00747 (PLG) | V | D | 676 | rs17857492 | Benign |
8900 | P00747 (PLG) | G | R | 751 | rs121918033 | Disease: Plasminogen deficiency (PLGD) [MIM:217090] |
8901 | P00748 (F12) | Y | C | 53 | rs118204455 | Disease: Factor XII deficiency (FA12D) [MIM:234000] |
8902 | P00748 (F12) | R | P | 142 | - | Disease: Factor XII deficiency (FA12D) [MIM:234000] |
8903 | P00748 (F12) | A | P | 207 | rs17876030 | Benign |
8904 | P00748 (F12) | T | K | 328 | rs118204456 | Disease: Hereditary angioedema 3 (HAE3) [MIM:610618] |
8905 | P00748 (F12) | T | R | 328 | rs118204456 | Disease: Hereditary angioedema 3 (HAE3) [MIM:610618] |
8906 | P00748 (F12) | P | Q | 342 | rs2230939 | Benign |
8907 | P00748 (F12) | R | P | 372 | rs118204454 | Disease: Factor XII deficiency (FA12D) [MIM:234000] |
8908 | P00748 (F12) | A | T | 411 | rs865853663 | Disease: Factor XII deficiency (FA12D) [MIM:234000] |
8909 | P00748 (F12) | L | M | 414 | - | Disease: Factor XII deficiency (FA12D) [MIM:234000] |
8910 | P00748 (F12) | R | Q | 417 | rs932430490 | Disease: Factor XII deficiency (FA12D) [MIM:234000] |
8911 | P00748 (F12) | Q | K | 440 | - | Disease: Factor XII deficiency (FA12D) [MIM:234000] |
8912 | P00748 (F12) | D | N | 461 | - | Disease: Factor XII deficiency (FA12D) [MIM:234000] |
8913 | P00748 (F12) | W | C | 505 | - | Disease: Factor XII deficiency (FA12D) [MIM:234000] |
8914 | P00748 (F12) | G | D | 545 | rs17876034 | Benign |
8915 | P00748 (F12) | G | R | 589 | rs766505234 | Disease: Factor XII deficiency (FA12D) [MIM:234000] |
8916 | P00748 (F12) | C | S | 590 | rs1157280571 | Disease: Factor XII deficiency (FA12D) [MIM:234000] |
8917 | P00748 (F12) | Y | H | 605 | rs17876035 | Benign |
8918 | P00749 (PLAU) | V | L | 15 | rs2227580 | Benign |
8919 | P00749 (PLAU) | P | L | 141 | rs2227564 | Benign |
8920 | P00749 (PLAU) | I | M | 214 | rs1050120 | Benign |
8921 | P00749 (PLAU) | K | Q | 231 | rs2227567 | Benign |
8922 | P00750 (PLAT) | A | D | 34 | rs8178733 | Benign |
8923 | P00750 (PLAT) | R | S | 136 | rs8178747 | Benign |
8924 | P00750 (PLAT) | A | T | 146 | rs8178748 | Benign |
8925 | P00750 (PLAT) | R | W | 164 | rs2020921 | Benign |
8926 | P00751 (CFB) | L | H | 9 | rs4151667 | Benign |
8927 | P00751 (CFB) | W | Q | 28 | - | Benign |
8928 | P00751 (CFB) | W | R | 28 | - | Benign |
8929 | P00751 (CFB) | R | Q | 32 | rs641153 | Benign |
8930 | P00751 (CFB) | R | W | 32 | rs12614 | Benign |
8931 | P00751 (CFB) | S | P | 166 | - | Disease: Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] |
8932 | P00751 (CFB) | R | Q | 203 | rs745794224 | Disease: Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] |
8933 | P00751 (CFB) | I | L | 242 | rs144812066 | Disease: Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] |
8934 | P00751 (CFB) | G | S | 252 | rs4151651 | Benign |
8935 | P00751 (CFB) | F | L | 286 | rs117905900 | Disease: Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] |
8936 | P00751 (CFB) | K | E | 323 | rs121909748 | Disease: Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] |
8937 | P00751 (CFB) | K | Q | 323 | - | Disease: Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] |
8938 | P00751 (CFB) | M | I | 458 | rs200837114 | Disease: Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] |
8939 | P00751 (CFB) | K | R | 533 | rs149101394 | Benign |
8940 | P00751 (CFB) | K | E | 565 | rs4151659 | Benign |
8941 | P00751 (CFB) | D | E | 651 | rs4151660 | Benign |
8942 | P00751 (CFB) | A | S | 736 | - | Benign |
8943 | P00797 (REN) | L | R | 16 | rs121917743 | Disease: Familial juvenile hyperuricemi c nephropathy 2 (HNFJ2) [MIM:613092] |
8944 | P00797 (REN) | R | W | 33 | rs11571098 | Benign |
8945 | P00797 (REN) | D | N | 104 | rs868694193 | Disease: Renal tubular dysgenesis (RTD) [MIM:267430] |
8946 | P00797 (REN) | Q | K | 160 | rs11571083 | Benign |
8947 | P00797 (REN) | G | R | 217 | rs11571117 | Benign |
8948 | P00797 (REN) | R | K | 230 | rs121917742 | Disease: Renal tubular dysgenesis (RTD) [MIM:267430] |
8949 | P00813 (ADA) | D | N | 8 | rs73598374 | Benign |
8950 | P00813 (ADA) | H | D | 15 | rs121908725 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8951 | P00813 (ADA) | G | R | 20 | rs121908724 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8952 | P00813 (ADA) | G | C | 74 | rs121908730 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8953 | P00813 (ADA) | R | W | 76 | rs121908736 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8954 | P00813 (ADA) | K | R | 80 | rs11555566 | Benign |
8955 | P00813 (ADA) | A | D | 83 | rs121908726 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8956 | P00813 (ADA) | R | L | 101 | rs121908714 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8957 | P00813 (ADA) | R | Q | 101 | rs121908714 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8958 | P00813 (ADA) | R | W | 101 | rs121908717 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8959 | P00813 (ADA) | L | P | 107 | rs121908739 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8960 | P00813 (ADA) | V | M | 129 | rs121908731 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8961 | P00813 (ADA) | G | E | 140 | rs121908732 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8962 | P00813 (ADA) | R | Q | 149 | rs121908737 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8963 | P00813 (ADA) | R | W | 149 | rs121908733 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8964 | P00813 (ADA) | L | M | 152 | rs121908728 | Benign |
8965 | P00813 (ADA) | R | C | 156 | rs121908735 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8966 | P00813 (ADA) | R | H | 156 | rs121908722 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8967 | P00813 (ADA) | V | M | 177 | rs121908719 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8968 | P00813 (ADA) | A | D | 179 | rs121908727 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8969 | P00813 (ADA) | Q | P | 199 | rs121908734 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8970 | P00813 (ADA) | R | C | 211 | rs121908740 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8971 | P00813 (ADA) | R | H | 211 | rs121908716 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8972 | P00813 (ADA) | A | T | 215 | rs114025668 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8973 | P00813 (ADA) | G | R | 216 | rs121908723 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8974 | P00813 (ADA) | T | I | 233 | rs121908729 | Benign |
8975 | P00813 (ADA) | P | L | 274 | rs121908738 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8976 | P00813 (ADA) | S | L | 291 | rs121908721 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8977 | P00813 (ADA) | P | Q | 297 | rs121908718 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8978 | P00813 (ADA) | L | R | 304 | rs199422327 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8979 | P00813 (ADA) | A | V | 329 | rs121908715 | Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] |
8980 | P00846 (MT-ATP6) | A | T | 7 | - | Benign |
8981 | P00846 (MT-ATP6) | A | T | 11 | - | Benign |
8982 | P00846 (MT-ATP6) | I | V | 14 | rs3020563 | Benign |
8983 | P00846 (MT-ATP6) | G | S | 16 | rs28502681 | Benign |
8984 | P00846 (MT-ATP6) | T | S | 33 | - | Benign |
8985 | P00846 (MT-ATP6) | L | P | 37 | - | Benign |
8986 | P00846 (MT-ATP6) | T | I | 53 | rs201336180 | Benign |
8987 | P00846 (MT-ATP6) | T | A | 59 | rs2000975 | Benign |
8988 | P00846 (MT-ATP6) | M | T | 60 | rs878959404 | Benign |
8989 | P00846 (MT-ATP6) | H | Y | 61 | - | Benign |
8990 | P00846 (MT-ATP6) | A | T | 80 | - | Benign |
8991 | P00846 (MT-ATP6) | H | Y | 90 | rs2298007 | Benign |
8992 | P00846 (MT-ATP6) | T | A | 112 | rs2001031 | Benign |
8993 | P00846 (MT-ATP6) | F | L | 117 | rs201123510 | Benign |
8994 | P00846 (MT-ATP6) | I | V | 121 | rs386829057 | Benign |
8995 | P00846 (MT-ATP6) | T | A | 133 | rs200329150 | Benign |
8996 | P00846 (MT-ATP6) | S | N | 148 | rs794726857 | Disease: Myopathy, lactic acidosis, and sideroblasti c anemia 3 (MLASA3) [MIM:500011] |
8997 | P00846 (MT-ATP6) | A | T | 155 | - | Benign |
8998 | P00846 (MT-ATP6) | L | P | 156 | rs199476133 | Disease: Mitochondria l complex V deficiency, mitochondria l 1 (MC5DM1) [MIM:500015] |
8999 | P00846 (MT-ATP6) | L | R | 156 | rs199476133 | Disease: Neuropathy, ataxia, and retinitis pigmentosa (NARP) [MIM:551500] |
9000 | P00846 (MT-ATP6) | A | T | 177 | rs9645429 | Benign |
9001 | P00846 (MT-ATP6) | T | A | 178 | - | Benign |
9002 | P00846 (MT-ATP6) | S | L | 182 | - | Benign |
9003 | P00846 (MT-ATP6) | I | V | 192 | - | Benign |
9004 | P00846 (MT-ATP6) | I | T | 192 | rs199476134 | Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000] |
9005 | P00846 (MT-ATP6) | F | L | 193 | - | Benign |
9006 | P00846 (MT-ATP6) | I | T | 204 | - | Benign |
9007 | P00846 (MT-ATP6) | V | I | 213 | rs2298010 | Benign |
9008 | P00846 (MT-ATP6) | L | P | 217 | rs199476135 | Disease: Mitochondria l infantile bilateral striatal necrosis (MIBSN) [MIM:500003] |
9009 | P00846 (MT-ATP6) | S | G | 219 | - | Benign |
9010 | P00846 (MT-ATP6) | L | P | 220 | rs199476138 | Disease: Leigh syndrome (LS) [MIM:256000] |
9011 | P00915 (CA1) | H | R | 68 | rs990757234 | Benign |
9012 | P00915 (CA1) | A | V | 143 | rs7821248 | Benign |
9013 | P00915 (CA1) | G | R | 254 | rs121909577 | Benign |
9014 | P00918 (CA2) | K | E | 18 | rs118203931 | Benign |
9015 | P00918 (CA2) | Q | P | 92 | rs1304160279 | Disease: Osteopetrosi s, autosomal recessive 3 (OPTB3) [MIM:259730] |
9016 | P00918 (CA2) | H | Y | 94 | - | Disease: Osteopetrosi s, autosomal recessive 3 (OPTB3) [MIM:259730] |
9017 | P00918 (CA2) | H | Y | 107 | rs118203933 | Disease: Osteopetrosi s, autosomal recessive 3 (OPTB3) [MIM:259730] |
9018 | P00918 (CA2) | G | R | 144 | - | Disease: Osteopetrosi s, autosomal recessive 3 (OPTB3) [MIM:259730] |
9019 | P00918 (CA2) | P | H | 236 | rs118203932 | Benign |
9020 | P00918 (CA2) | N | D | 252 | rs2228063 | Benign |
9021 | P00966 (ASS1) | G | S | 14 | rs121908636 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9022 | P00966 (ASS1) | S | L | 18 | rs121908643 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9023 | P00966 (ASS1) | C | R | 19 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9024 | P00966 (ASS1) | Q | L | 40 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9025 | P00966 (ASS1) | V | A | 69 | rs771594651 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9026 | P00966 (ASS1) | S | P | 79 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9027 | P00966 (ASS1) | R | C | 86 | rs121908644 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9028 | P00966 (ASS1) | R | H | 86 | rs575001023 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9029 | P00966 (ASS1) | T | P | 91 | rs769018733 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9030 | P00966 (ASS1) | R | S | 95 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9031 | P00966 (ASS1) | P | H | 96 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9032 | P00966 (ASS1) | P | L | 96 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9033 | P00966 (ASS1) | P | S | 96 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9034 | P00966 (ASS1) | R | C | 100 | rs370695114 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9035 | P00966 (ASS1) | R | H | 100 | rs138279074 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9036 | P00966 (ASS1) | R | L | 108 | rs35269064 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9037 | P00966 (ASS1) | A | D | 111 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9038 | P00966 (ASS1) | G | C | 117 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9039 | P00966 (ASS1) | G | D | 117 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9040 | P00966 (ASS1) | G | S | 117 | rs770944877 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9041 | P00966 (ASS1) | A | T | 118 | rs775305020 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9042 | P00966 (ASS1) | T | I | 119 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9043 | P00966 (ASS1) | D | N | 124 | rs936192871 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9044 | P00966 (ASS1) | R | L | 127 | rs201623252 | Benign |
9045 | P00966 (ASS1) | R | Q | 127 | rs201623252 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9046 | P00966 (ASS1) | R | W | 127 | rs771794639 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9047 | P00966 (ASS1) | V | G | 141 | rs1184442048 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9048 | P00966 (ASS1) | R | C | 157 | rs770585183 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9049 | P00966 (ASS1) | R | H | 157 | rs121908637 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9050 | P00966 (ASS1) | R | S | 157 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9051 | P00966 (ASS1) | L | P | 160 | rs969835605 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9052 | P00966 (ASS1) | A | P | 164 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9053 | P00966 (ASS1) | W | R | 179 | rs121908646 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9054 | P00966 (ASS1) | S | I | 180 | rs121908638 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9055 | P00966 (ASS1) | S | N | 180 | rs121908638 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9056 | P00966 (ASS1) | N | K | 184 | rs368192467 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9057 | P00966 (ASS1) | Y | D | 190 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9058 | P00966 (ASS1) | E | K | 191 | rs777828000 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9059 | P00966 (ASS1) | E | Q | 191 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9060 | P00966 (ASS1) | A | V | 192 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9061 | P00966 (ASS1) | A | E | 202 | rs376371866 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9062 | P00966 (ASS1) | L | P | 206 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9063 | P00966 (ASS1) | G | R | 230 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9064 | P00966 (ASS1) | N | I | 237 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9065 | P00966 (ASS1) | A | P | 258 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9066 | P00966 (ASS1) | A | V | 258 | rs753078725 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9067 | P00966 (ASS1) | V | M | 263 | rs192838388 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9068 | P00966 (ASS1) | R | C | 265 | rs148918985 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9069 | P00966 (ASS1) | R | H | 265 | rs398123131 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9070 | P00966 (ASS1) | V | M | 269 | rs370595480 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9071 | P00966 (ASS1) | E | Q | 270 | rs775163147 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9072 | P00966 (ASS1) | R | C | 272 | rs762387914 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9073 | P00966 (ASS1) | R | H | 272 | rs768215008 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9074 | P00966 (ASS1) | R | L | 272 | rs768215008 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9075 | P00966 (ASS1) | K | T | 277 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9076 | P00966 (ASS1) | R | Q | 279 | rs371265106 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9077 | P00966 (ASS1) | G | R | 280 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9078 | P00966 (ASS1) | E | K | 283 | rs765338121 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9079 | P00966 (ASS1) | T | I | 284 | rs886039853 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9080 | P00966 (ASS1) | L | P | 290 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9081 | P00966 (ASS1) | Y | S | 291 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9082 | P00966 (ASS1) | D | G | 296 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9083 | P00966 (ASS1) | A | D | 299 | rs768394647 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9084 | P00966 (ASS1) | M | V | 302 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9085 | P00966 (ASS1) | R | W | 304 | rs121908642 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9086 | P00966 (ASS1) | V | G | 306 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9087 | P00966 (ASS1) | R | C | 307 | rs183276875 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9088 | P00966 (ASS1) | K | Q | 310 | rs121908648 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9089 | P00966 (ASS1) | K | R | 310 | rs199751308 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9090 | P00966 (ASS1) | V | M | 321 | rs727503813 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9091 | P00966 (ASS1) | G | S | 324 | rs121908639 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9092 | P00966 (ASS1) | G | V | 324 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9093 | P00966 (ASS1) | R | H | 335 | rs555388438 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9094 | P00966 (ASS1) | C | R | 337 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9095 | P00966 (ASS1) | S | F | 341 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9096 | P00966 (ASS1) | V | G | 345 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9097 | P00966 (ASS1) | G | R | 347 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9098 | P00966 (ASS1) | G | V | 356 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9099 | P00966 (ASS1) | Y | D | 359 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9100 | P00966 (ASS1) | G | V | 362 | rs121908647 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9101 | P00966 (ASS1) | R | G | 363 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9102 | P00966 (ASS1) | R | L | 363 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9103 | P00966 (ASS1) | R | Q | 363 | rs771937610 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9104 | P00966 (ASS1) | R | W | 363 | rs121908640 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9105 | P00966 (ASS1) | T | I | 389 | rs1474017319 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9106 | P00966 (ASS1) | T | P | 389 | - | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9107 | P00966 (ASS1) | G | R | 390 | rs121908641 | Disease: Citrullinemi a 1 (CTLN1) [MIM:215700] |
9108 | P00973 (OAS1) | N | D | 31 | rs1050994 | Benign |
9109 | P00973 (OAS1) | G | R | 127 | rs4767022 | Benign |
9110 | P00973 (OAS1) | G | S | 162 | rs1131454 | Benign |
9111 | P00973 (OAS1) | A | T | 352 | rs1131476 | Benign |
9112 | P00973 (OAS1) | D | G | 354 | rs35919998 | Benign |
9113 | P00973 (OAS1) | R | T | 361 | rs1051042 | Benign |
9114 | P00995 (SPINK1) | L | F | 12 | rs35877720 | Disease: Pancreatitis , hereditary (PCTT) [MIM:167800] |
9115 | P00995 (SPINK1) | L | P | 14 | rs104893939 | Disease: Pancreatitis , hereditary (PCTT) [MIM:167800] |
9116 | P00995 (SPINK1) | N | S | 34 | rs17107315 | Disease: Tropical calcific pancreatitis (TCP) [MIM:608189] |
9117 | P00995 (SPINK1) | P | S | 55 | rs111966833 | Benign |
9118 | P00995 (SPINK1) | R | H | 67 | rs35523678 | Benign |
9119 | P01008 (SERPINC1) | Y | S | 17 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9120 | P01008 (SERPINC1) | L | P | 23 | rs387906575 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9121 | P01008 (SERPINC1) | V | E | 30 | rs2227624 | Benign |
9122 | P01008 (SERPINC1) | C | R | 32 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9123 | P01008 (SERPINC1) | I | N | 39 | rs121909558 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9124 | P01008 (SERPINC1) | M | T | 52 | rs892712171 | Benign |
9125 | P01008 (SERPINC1) | C | F | 53 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9126 | P01008 (SERPINC1) | R | C | 56 | rs28929469 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9127 | P01008 (SERPINC1) | P | L | 73 | rs121909551 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9128 | P01008 (SERPINC1) | R | C | 79 | rs121909547 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9129 | P01008 (SERPINC1) | R | H | 79 | rs121909552 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9130 | P01008 (SERPINC1) | R | S | 79 | rs121909547 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9131 | P01008 (SERPINC1) | R | C | 89 | rs147266200 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9132 | P01008 (SERPINC1) | F | L | 90 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9133 | P01008 (SERPINC1) | Y | C | 95 | rs907768931 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9134 | P01008 (SERPINC1) | Y | S | 95 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9135 | P01008 (SERPINC1) | L | P | 98 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9136 | P01008 (SERPINC1) | P | T | 112 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9137 | P01008 (SERPINC1) | M | K | 121 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9138 | P01008 (SERPINC1) | G | D | 125 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9139 | P01008 (SERPINC1) | C | R | 127 | rs121909573 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9140 | P01008 (SERPINC1) | L | F | 131 | rs121909567 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9141 | P01008 (SERPINC1) | L | V | 131 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9142 | P01008 (SERPINC1) | Q | K | 133 | rs1411331203 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9143 | P01008 (SERPINC1) | K | E | 146 | rs1170430756 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9144 | P01008 (SERPINC1) | T | A | 147 | rs2227606 | Benign |
9145 | P01008 (SERPINC1) | S | P | 148 | rs121909569 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9146 | P01008 (SERPINC1) | Q | P | 150 | rs765445413 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9147 | P01008 (SERPINC1) | H | Y | 152 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9148 | P01008 (SERPINC1) | L | P | 158 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9149 | P01008 (SERPINC1) | C | Y | 160 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9150 | P01008 (SERPINC1) | R | Q | 161 | rs121909563 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9151 | P01008 (SERPINC1) | N | T | 167 | rs121909570 | Benign |
9152 | P01008 (SERPINC1) | S | P | 170 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9153 | P01008 (SERPINC1) | L | H | 178 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9154 | P01008 (SERPINC1) | F | L | 179 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9155 | P01008 (SERPINC1) | Y | C | 190 | - | Benign |
9156 | P01008 (SERPINC1) | Y | C | 198 | rs1425532034 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9157 | P01008 (SERPINC1) | Y | H | 198 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9158 | P01008 (SERPINC1) | S | F | 214 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9159 | P01008 (SERPINC1) | S | Y | 214 | rs483352854 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9160 | P01008 (SERPINC1) | I | N | 218 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9161 | P01008 (SERPINC1) | N | D | 219 | rs121909571 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9162 | P01008 (SERPINC1) | N | K | 219 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9163 | P01008 (SERPINC1) | S | P | 223 | rs121909572 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9164 | P01008 (SERPINC1) | T | I | 243 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9165 | P01008 (SERPINC1) | V | G | 248 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9166 | P01008 (SERPINC1) | I | T | 251 | rs1423630663 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9167 | P01008 (SERPINC1) | W | R | 257 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9168 | P01008 (SERPINC1) | F | L | 261 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9169 | P01008 (SERPINC1) | E | K | 269 | rs758087836 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9170 | P01008 (SERPINC1) | M | I | 283 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9171 | P01008 (SERPINC1) | M | V | 283 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9172 | P01008 (SERPINC1) | R | P | 293 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9173 | P01008 (SERPINC1) | L | P | 302 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9174 | P01008 (SERPINC1) | I | N | 316 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9175 | P01008 (SERPINC1) | S | P | 323 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9176 | P01008 (SERPINC1) | E | K | 334 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9177 | P01008 (SERPINC1) | S | P | 381 | rs121909565 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9178 | P01008 (SERPINC1) | R | Q | 391 | rs201541724 | Benign |
9179 | P01008 (SERPINC1) | S | P | 397 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9180 | P01008 (SERPINC1) | D | H | 398 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9181 | P01008 (SERPINC1) | H | R | 401 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9182 | P01008 (SERPINC1) | S | R | 412 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9183 | P01008 (SERPINC1) | A | T | 414 | rs121909557 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9184 | P01008 (SERPINC1) | A | P | 416 | rs121909548 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9185 | P01008 (SERPINC1) | A | S | 416 | rs121909548 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9186 | P01008 (SERPINC1) | A | V | 419 | rs121909568 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9187 | P01008 (SERPINC1) | G | D | 424 | rs121909566 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9188 | P01008 (SERPINC1) | R | C | 425 | rs121909554 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9189 | P01008 (SERPINC1) | R | H | 425 | rs121909549 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9190 | P01008 (SERPINC1) | R | P | 425 | rs121909549 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9191 | P01008 (SERPINC1) | S | L | 426 | rs121909550 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9192 | P01008 (SERPINC1) | F | C | 434 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9193 | P01008 (SERPINC1) | F | L | 434 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9194 | P01008 (SERPINC1) | F | S | 434 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9195 | P01008 (SERPINC1) | A | T | 436 | rs121909546 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9196 | P01008 (SERPINC1) | N | K | 437 | rs1301351856 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9197 | P01008 (SERPINC1) | R | G | 438 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9198 | P01008 (SERPINC1) | R | M | 438 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9199 | P01008 (SERPINC1) | P | A | 439 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9200 | P01008 (SERPINC1) | P | L | 439 | rs121909555 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9201 | P01008 (SERPINC1) | P | T | 439 | rs1487411568 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9202 | P01008 (SERPINC1) | L | P | 441 | rs1188571702 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9203 | P01008 (SERPINC1) | I | T | 453 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9204 | P01008 (SERPINC1) | G | R | 456 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9205 | P01008 (SERPINC1) | R | T | 457 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9206 | P01008 (SERPINC1) | A | D | 459 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9207 | P01008 (SERPINC1) | P | L | 461 | rs121909564 | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9208 | P01008 (SERPINC1) | C | F | 462 | - | Disease: Antithrombin III deficiency (AT3D) [MIM:613118] |
9209 | P01009 (SERPINA1) | D | A | 26 | rs199422212 | Benign |
9210 | P01009 (SERPINA1) | T | A | 37 | rs11558262 | Benign |
9211 | P01009 (SERPINA1) | A | T | 58 | rs149319176 | Benign |
9212 | P01009 (SERPINA1) | R | C | 63 | rs28931570 | Benign |
9213 | P01009 (SERPINA1) | L | P | 65 | rs28931569 | Benign |
9214 | P01009 (SERPINA1) | S | F | 69 | rs199687431 | Benign |
9215 | P01009 (SERPINA1) | S | F | 77 | rs55819880 | Benign |
9216 | P01009 (SERPINA1) | A | T | 84 | rs111850950 | Benign |
9217 | P01009 (SERPINA1) | G | E | 91 | rs28931568 | Benign |
9218 | P01009 (SERPINA1) | T | I | 92 | rs1490133295 | Benign |
9219 | P01009 (SERPINA1) | T | M | 109 | rs199422213 | Benign |
9220 | P01009 (SERPINA1) | P | T | 112 | rs886044322 | Benign |
9221 | P01009 (SERPINA1) | I | N | 116 | rs28931572 | Benign |
9222 | P01009 (SERPINA1) | R | H | 125 | rs709932 | Benign |
9223 | P01009 (SERPINA1) | G | S | 139 | rs11558261 | Benign |
9224 | P01009 (SERPINA1) | G | R | 172 | rs112030253 | Benign |
9225 | P01009 (SERPINA1) | G | W | 172 | rs112030253 | Benign |
9226 | P01009 (SERPINA1) | Q | E | 180 | rs864622051 | Benign |
9227 | P01009 (SERPINA1) | E | K | 228 | rs199422208 | Benign |
9228 | P01009 (SERPINA1) | V | A | 237 | rs6647 | Benign |
9229 | P01009 (SERPINA1) | R | C | 247 | rs28929470 | Benign |
9230 | P01009 (SERPINA1) | D | V | 280 | rs121912714 | Benign |
9231 | P01009 (SERPINA1) | E | V | 288 | rs17580 | Benign |
9232 | P01009 (SERPINA1) | S | F | 354 | rs201788603 | Benign |
9233 | P01009 (SERPINA1) | A | T | 360 | rs1802959 | Benign |
9234 | P01009 (SERPINA1) | D | N | 365 | rs143370956 | Benign |
9235 | P01009 (SERPINA1) | E | K | 366 | rs28929474 | Benign |
9236 | P01009 (SERPINA1) | M | R | 382 | rs121912713 | Benign |
9237 | P01009 (SERPINA1) | P | H | 386 | rs569384943 | Benign |
9238 | P01009 (SERPINA1) | P | T | 386 | rs12233 | Benign |
9239 | P01009 (SERPINA1) | E | K | 387 | rs121912712 | Benign |
9240 | P01009 (SERPINA1) | P | L | 393 | rs199422209 | Benign |
9241 | P01009 (SERPINA1) | E | D | 400 | rs1303 | Benign |
9242 | P01011 (SERPINA3) | A | T | 9 | rs4934 | Benign |
9243 | P01011 (SERPINA3) | L | P | 78 | rs1800463 | Benign |
9244 | P01011 (SERPINA3) | A | G | 167 | - | Benign |
9245 | P01011 (SERPINA3) | P | A | 252 | rs17473 | Benign |
9246 | P01011 (SERPINA3) | K | R | 267 | rs17853314 | Benign |
9247 | P01011 (SERPINA3) | M | V | 401 | rs755521612 | Benign |
9248 | P01011 (SERPINA3) | D | G | 407 | rs10956 | Benign |
9249 | P01019 (AGT) | L | F | 43 | rs41271499 | Benign |
9250 | P01019 (AGT) | E | K | 98 | rs11568032 | Benign |
9251 | P01019 (AGT) | G | C | 114 | rs2229389 | Benign |
9252 | P01019 (AGT) | T | M | 137 | rs34829218 | Benign |
9253 | P01019 (AGT) | T | M | 207 | rs4762 | Benign |
9254 | P01019 (AGT) | T | I | 242 | rs765678426 | Benign |
9255 | P01019 (AGT) | L | R | 244 | rs5041 | Benign |
9256 | P01019 (AGT) | M | I | 268 | rs11568053 | Benign |
9257 | P01019 (AGT) | M | T | 268 | rs699 | Benign |
9258 | P01019 (AGT) | Y | C | 281 | rs56073403 | Benign |
9259 | P01019 (AGT) | P | S | 335 | rs17856352 | Benign |
9260 | P01019 (AGT) | R | Q | 375 | rs74315283 | Disease: Renal tubular dysgenesis (RTD) [MIM:267430] |
9261 | P01019 (AGT) | L | M | 392 | rs1805090 | Benign |
9262 | P01023 (A2M) | N | D | 639 | rs226405 | Benign |
9263 | P01023 (A2M) | R | H | 704 | rs1800434 | Benign |
9264 | P01023 (A2M) | L | Q | 815 | rs3180392 | Benign |
9265 | P01023 (A2M) | C | Y | 972 | rs1800433 | Benign |
9266 | P01023 (A2M) | I | V | 1000 | rs669 | Benign |
9267 | P01024 (C3) | R | G | 102 | rs2230199 | Benign |
9268 | P01024 (C3) | K | Q | 155 | rs147859257 | Disease: Macular degeneration , age-related, 9 (ARMD9) [MIM:611378] |
9269 | P01024 (C3) | P | L | 314 | rs1047286 | Benign |
9270 | P01024 (C3) | E | D | 469 | rs11569422 | Benign |
9271 | P01024 (C3) | D | N | 549 | rs1449441916 | Disease: Complement component 3 deficiency (C3D) [MIM:613779] |
9272 | P01024 (C3) | R | Q | 592 | rs121909583 | Disease: Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
9273 | P01024 (C3) | R | W | 592 | rs771353792 | Disease: Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
9274 | P01024 (C3) | F | V | 603 | - | Disease: Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
9275 | P01024 (C3) | R | W | 735 | rs117793540 | Disease: Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
9276 | P01024 (C3) | R | K | 863 | rs11569472 | Benign |
9277 | P01024 (C3) | R | L | 1042 | - | Disease: Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
9278 | P01024 (C3) | A | V | 1094 | rs121909584 | Disease: Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
9279 | P01024 (C3) | D | N | 1115 | rs121909585 | Disease: Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
9280 | P01024 (C3) | C | W | 1158 | - | Disease: Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
9281 | P01024 (C3) | Q | K | 1161 | - | Disease: Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
9282 | P01024 (C3) | G | D | 1224 | rs11569534 | Benign |
9283 | P01024 (C3) | I | T | 1367 | rs11569541 | Benign |
9284 | P01024 (C3) | H | D | 1464 | - | Disease: Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
9285 | P01024 (C3) | Q | R | 1521 | rs7256789 | Benign |
9286 | P01024 (C3) | H | N | 1601 | rs1803225 | Benign |
9287 | P01024 (C3) | S | R | 1619 | rs2230210 | Benign |
9288 | P01031 (C5) | V | I | 145 | rs17216529 | Benign |
9289 | P01031 (C5) | L | M | 354 | rs34552775 | Benign |
9290 | P01031 (C5) | T | I | 389 | - | Benign |
9291 | P01031 (C5) | R | G | 449 | rs2230213 | Benign |
9292 | P01031 (C5) | F | S | 518 | - | Benign |
9293 | P01031 (C5) | V | I | 802 | rs17611 | Benign |
9294 | P01031 (C5) | R | C | 885 | rs373359894 | Benign |
9295 | P01031 (C5) | R | H | 885 | rs56040400 | Benign |
9296 | P01031 (C5) | R | Q | 928 | rs41309892 | Benign |
9297 | P01031 (C5) | G | V | 933 | rs41309902 | Benign |
9298 | P01031 (C5) | D | Y | 966 | rs2230212 | Benign |
9299 | P01031 (C5) | I | T | 1033 | rs41311881 | Benign |
9300 | P01031 (C5) | D | N | 1037 | rs41311883 | Benign |
9301 | P01031 (C5) | Q | K | 1043 | rs41311887 | Benign |
9302 | P01031 (C5) | M | L | 1053 | rs17609 | Benign |
9303 | P01031 (C5) | S | N | 1310 | rs17610 | Benign |
9304 | P01031 (C5) | V | A | 1365 | rs16910245 | Benign |
9305 | P01031 (C5) | E | D | 1437 | rs17612 | Benign |
9306 | P01034 (CST3) | A | T | 25 | rs1064039 | Disease: Macular degeneration , age-related, 11 (ARMD11) [MIM:611953] |
9307 | P01034 (CST3) | L | Q | 94 | rs28939068 | Disease: Amyloidosis 6 (AMYL6) [MIM:105150] |
9308 | P01036 (CST4) | D | N | 36 | rs3210291 | Benign |
9309 | P01037 (CST1) | Y | H | 4 | rs6076122 | Benign |
9310 | P01037 (CST1) | P | L | 31 | rs2070856 | Benign |
9311 | P01037 (CST1) | N | D | 129 | rs3188319 | Benign |
9312 | P01037 (CST1) | R | M | 131 | rs3188320 | Benign |
9313 | P01037 (CST1) | K | N | 135 | rs3188322 | Benign |
9314 | P01040 (CSTA) | T | M | 96 | rs34173813 | Benign |
9315 | P01042 (KNG1) | G | S | 163 | rs5030015 | Benign |
9316 | P01042 (KNG1) | M | T | 178 | rs1656922 | Benign |
9317 | P01042 (KNG1) | I | M | 197 | rs2304456 | Benign |
9318 | P01042 (KNG1) | L | P | 212 | rs5030024 | Benign |
9319 | P01042 (KNG1) | D | E | 430 | rs5030084 | Benign |
9320 | P01042 (KNG1) | I | T | 581 | rs710446 | Benign |
9321 | P01042 (KNG1) | G | A | 642 | rs5030087 | Benign |
9322 | P01106 (MYC) | N | S | 11 | rs4645959 | Benign |
9323 | P01106 (MYC) | G | C | 160 | rs4645960 | Benign |
9324 | P01106 (MYC) | V | I | 170 | rs4645961 | Benign |
9325 | P01106 (MYC) | A | V | 322 | rs4645968 | Benign |
9326 | P01111 (NRAS) | G | D | 12 | rs121913237 | Disease: Leukemia, juvenile myelomonocyt ic (JMML) [MIM:607785] |
9327 | P01111 (NRAS) | G | D | 13 | rs121434596 | Disease: RAS- associated autoimmune leukoprolife rative disorder (RALD) [MIM:614470] |
9328 | P01111 (NRAS) | G | R | 13 | rs121434595 | Disease: Colorectal cancer |
9329 | P01111 (NRAS) | P | L | 34 | rs397514553 | Disease: Keratinocyti c non-epidermo lytic nevus (KNEN) [MIM:162900] |
9330 | P01111 (NRAS) | T | I | 50 | rs267606921 | Disease: Noonan syndrome 6 (NS6) [MIM:613224] |
9331 | P01111 (NRAS) | G | E | 60 | rs267606920 | Disease: Noonan syndrome 6 (NS6) [MIM:613224] |
9332 | P01111 (NRAS) | Q | K | 61 | rs121913254 | Disease: Melanosis, neurocutaneo us (NCMS) [MIM:249400] |
9333 | P01111 (NRAS) | Q | R | 61 | rs11554290 | Disease: Thyroid cancer, non- medullary, 2 (NMTC2) [MIM:188470] |
9334 | P01112 (HRAS) | G | A | 12 | rs104894230 | Disease: Costello syndrome (CSTLO) [MIM:218040] |
9335 | P01112 (HRAS) | G | C | 12 | rs104894229 | Disease: Costello syndrome (CSTLO) [MIM:218040] |
9336 | P01112 (HRAS) | G | D | 12 | rs104894230 | Disease: Costello syndrome (CSTLO) [MIM:218040] |
9337 | P01112 (HRAS) | G | E | 12 | - | Disease: Costello syndrome (CSTLO) [MIM:218040] |
9338 | P01112 (HRAS) | G | S | 12 | rs104894229 | Disease: Costello syndrome (CSTLO) [MIM:218040] |
9339 | P01112 (HRAS) | G | V | 12 | rs104894230 | Disease: Bladder carcinoma |
9340 | P01112 (HRAS) | G | C | 13 | rs104894228 | Disease: Costello syndrome (CSTLO) [MIM:218040] |
9341 | P01112 (HRAS) | G | D | 13 | rs104894226 | Disease: Costello syndrome (CSTLO) [MIM:218040] |
9342 | P01112 (HRAS) | G | R | 13 | rs104894228 | Disease: Schimmelpenn ing- Feuerstein- Mims syndrome (SFM) [MIM:163200] |
9343 | P01112 (HRAS) | Q | K | 22 | rs121917757 | Disease: Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] |
9344 | P01112 (HRAS) | T | I | 58 | rs121917758 | Disease: Costello syndrome (CSTLO) [MIM:218040] |
9345 | P01112 (HRAS) | Q | K | 61 | rs28933406 | Disease: Thyroid cancer, non- medullary, 2 (NMTC2) [MIM:188470] |
9346 | P01112 (HRAS) | E | K | 63 | rs121917756 | Disease: Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] |
9347 | P01112 (HRAS) | K | R | 117 | rs104894227 | Disease: Costello syndrome (CSTLO) [MIM:218040] |
9348 | P01112 (HRAS) | A | T | 146 | rs104894231 | Disease: Costello syndrome (CSTLO) [MIM:218040] |
9349 | P01112 (HRAS) | A | V | 146 | rs121917759 | Disease: Costello syndrome (CSTLO) [MIM:218040] |
9350 | P01116 (KRAS) | K | E | 5 | rs193929331 | Disease: Noonan syndrome 3 (NS3) [MIM:609942] |
9351 | P01116 (KRAS) | K | N | 5 | rs104894361 | Disease: Gastric cancer (GASC) [MIM:613659] |
9352 | P01116 (KRAS) | G | D | 12 | rs121913529 | Disease: Schimmelpenn ing- Feuerstein- Mims syndrome (SFM) [MIM:163200] |
9353 | P01116 (KRAS) | G | S | 12 | rs121913530 | Disease: Leukemia, juvenile myelomonocyt ic (JMML) [MIM:607785] |
9354 | P01116 (KRAS) | G | V | 12 | rs121913529 | Disease: Gastric cancer (GASC) [MIM:613659] |
9355 | P01116 (KRAS) | G | R | 13 | rs121913535 | Benign |
9356 | P01116 (KRAS) | G | D | 13 | rs112445441 | Disease: Oculoectoder mal syndrome (OES) [MIM:600268] |
9357 | P01116 (KRAS) | V | I | 14 | rs104894365 | Disease: Noonan syndrome 3 (NS3) [MIM:609942] |
9358 | P01116 (KRAS) | L | F | 19 | - | Disease: Oculoectoder mal syndrome (OES) [MIM:600268] |
9359 | P01116 (KRAS) | Q | E | 22 | - | Disease: Cardiofacioc utaneous syndrome 2 (CFC2) [MIM:615278] |
9360 | P01116 (KRAS) | Q | R | 22 | rs727503110 | Disease: Noonan syndrome 3 (NS3) [MIM:609942] |
9361 | P01116 (KRAS) | P | L | 34 | rs104894366 | Disease: Noonan syndrome 3 (NS3) [MIM:609942] |
9362 | P01116 (KRAS) | P | Q | 34 | - | Disease: Noonan syndrome 3 (NS3) [MIM:609942] |
9363 | P01116 (KRAS) | P | R | 34 | rs104894366 | Disease: Cardiofacioc utaneous syndrome 2 (CFC2) [MIM:615278] |
9364 | P01116 (KRAS) | I | M | 36 | rs727503109 | Disease: Noonan syndrome 3 (NS3) [MIM:609942] |
9365 | P01116 (KRAS) | T | I | 58 | rs104894364 | Disease: Noonan syndrome 3 (NS3) [MIM:609942] |
9366 | P01116 (KRAS) | A | T | 59 | rs121913528 | Disease: Gastric cancer (GASC) [MIM:613659] |
9367 | P01116 (KRAS) | G | R | 60 | rs104894359 | Disease: Cardiofacioc utaneous syndrome 2 (CFC2) [MIM:615278] |
9368 | P01116 (KRAS) | G | S | 60 | rs104894359 | Disease: Noonan syndrome 3 (NS3) [MIM:609942] |
9369 | P01116 (KRAS) | Y | H | 71 | rs387907205 | Disease: Cardiofacioc utaneous syndrome 2 (CFC2) [MIM:615278] |
9370 | P01116 (KRAS) | A | T | 146 | rs121913527 | Disease: Oculoectoder mal syndrome (OES) [MIM:600268] |
9371 | P01116 (KRAS) | A | V | 146 | - | Disease: Oculoectoder mal syndrome (OES) [MIM:600268] |
9372 | P01116 (KRAS) | K | E | 147 | rs387907206 | Disease: Cardiofacioc utaneous syndrome 2 (CFC2) [MIM:615278] |
9373 | P01127 (PDGFB) | L | R | 9 | - | Disease: Basal ganglia calcificatio n, idiopathic, 5 (IBGC5) [MIM:615483] |
9374 | P01127 (PDGFB) | I | V | 88 | rs17565 | Benign |
9375 | P01127 (PDGFB) | L | P | 119 | rs397515632 | Disease: Basal ganglia calcificatio n, idiopathic, 5 (IBGC5) [MIM:615483] |
9376 | P01130 (LDLR) | G | R | 2 | rs5931 | Benign |
9377 | P01130 (LDLR) | C | W | 27 | rs2228671 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9378 | P01130 (LDLR) | C | S | 46 | rs121908041 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9379 | P01130 (LDLR) | A | S | 50 | rs137853960 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9380 | P01130 (LDLR) | C | Y | 52 | rs879254418 | Benign |
9381 | P01130 (LDLR) | S | P | 56 | rs878854026 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9382 | P01130 (LDLR) | R | C | 78 | rs370860696 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9383 | P01130 (LDLR) | W | G | 87 | rs121908025 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9384 | P01130 (LDLR) | C | Y | 89 | rs875989894 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9385 | P01130 (LDLR) | D | G | 90 | rs771019366 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9386 | P01130 (LDLR) | D | N | 90 | rs749038326 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9387 | P01130 (LDLR) | D | Y | 90 | rs749038326 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9388 | P01130 (LDLR) | Q | E | 92 | rs774467219 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9389 | P01130 (LDLR) | C | G | 95 | rs879254456 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9390 | P01130 (LDLR) | E | K | 101 | rs144172724 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9391 | P01130 (LDLR) | P | S | 105 | rs13306510 | Benign |
9392 | P01130 (LDLR) | C | R | 109 | rs140807148 | Benign |
9393 | P01130 (LDLR) | C | R | 116 | rs879254482 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9394 | P01130 (LDLR) | C | F | 134 | rs879254514 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9395 | P01130 (LDLR) | C | W | 134 | rs879254515 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9396 | P01130 (LDLR) | D | H | 139 | rs879254517 | Benign |
9397 | P01130 (LDLR) | E | K | 140 | rs748944640 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9398 | P01130 (LDLR) | C | R | 143 | rs875989901 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9399 | P01130 (LDLR) | C | Y | 148 | rs879254526 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9400 | P01130 (LDLR) | C | G | 155 | rs879254535 | Benign |
9401 | P01130 (LDLR) | C | Y | 155 | rs879254536 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9402 | P01130 (LDLR) | D | H | 168 | rs200727689 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9403 | P01130 (LDLR) | D | N | 168 | rs200727689 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9404 | P01130 (LDLR) | D | Y | 168 | rs200727689 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9405 | P01130 (LDLR) | D | H | 172 | rs879254554 | Benign |
9406 | P01130 (LDLR) | D | N | 172 | rs879254554 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9407 | P01130 (LDLR) | C | R | 173 | rs879254558 | Benign |
9408 | P01130 (LDLR) | C | W | 173 | rs769318035 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9409 | P01130 (LDLR) | D | N | 175 | rs121908033 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9410 | P01130 (LDLR) | D | Y | 175 | rs121908033 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9411 | P01130 (LDLR) | S | L | 177 | rs121908026 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9412 | P01130 (LDLR) | C | W | 184 | rs879254571 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9413 | P01130 (LDLR) | C | Y | 184 | rs121908039 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9414 | P01130 (LDLR) | C | F | 197 | rs376459828 | Benign |
9415 | P01130 (LDLR) | C | Y | 197 | rs376459828 | Benign |
9416 | P01130 (LDLR) | C | R | 197 | rs730882085 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9417 | P01130 (LDLR) | E | K | 201 | rs879254589 | Benign |
9418 | P01130 (LDLR) | D | G | 221 | rs373822756 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9419 | P01130 (LDLR) | D | N | 221 | rs875989906 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9420 | P01130 (LDLR) | D | Y | 221 | rs875989906 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9421 | P01130 (LDLR) | C | Y | 222 | rs730882086 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9422 | P01130 (LDLR) | D | G | 224 | rs879254630 | Benign |
9423 | P01130 (LDLR) | D | N | 224 | rs387906303 | Benign |
9424 | P01130 (LDLR) | D | V | 224 | rs879254630 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9425 | P01130 (LDLR) | S | P | 226 | rs879254635 | Benign |
9426 | P01130 (LDLR) | D | E | 227 | rs121908028 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9427 | P01130 (LDLR) | E | K | 228 | rs121908029 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9428 | P01130 (LDLR) | E | Q | 228 | rs121908029 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9429 | P01130 (LDLR) | C | G | 231 | rs746091400 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9430 | P01130 (LDLR) | E | K | 240 | rs768563000 | Benign |
9431 | P01130 (LDLR) | C | F | 248 | rs879254663 | Benign |
9432 | P01130 (LDLR) | C | Y | 248 | rs879254663 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9433 | P01130 (LDLR) | R | W | 253 | rs150673992 | Benign |
9434 | P01130 (LDLR) | Q | P | 254 | rs879254667 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9435 | P01130 (LDLR) | C | S | 255 | rs879254668 | Benign |
9436 | P01130 (LDLR) | D | G | 256 | rs879254670 | Benign |
9437 | P01130 (LDLR) | R | W | 257 | rs200990725 | Benign |
9438 | P01130 (LDLR) | C | F | 261 | rs121908040 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9439 | P01130 (LDLR) | C | Y | 270 | rs879254683 | Benign |
9440 | P01130 (LDLR) | C | R | 276 | rs879254692 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9441 | P01130 (LDLR) | C | Y | 276 | rs730882089 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9442 | P01130 (LDLR) | E | K | 288 | rs368657165 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9443 | P01130 (LDLR) | R | G | 300 | rs767618089 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9444 | P01130 (LDLR) | D | A | 301 | rs879254714 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9445 | P01130 (LDLR) | D | G | 301 | rs879254714 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9446 | P01130 (LDLR) | C | W | 302 | rs879254716 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9447 | P01130 (LDLR) | C | Y | 302 | rs879254715 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9448 | P01130 (LDLR) | D | E | 304 | rs875989909 | Benign |
9449 | P01130 (LDLR) | D | N | 304 | rs121908030 | Benign |
9450 | P01130 (LDLR) | C | Y | 313 | rs875989911 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9451 | P01130 (LDLR) | C | Y | 318 | rs879254739 | Benign |
9452 | P01130 (LDLR) | C | F | 318 | rs879254739 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9453 | P01130 (LDLR) | C | R | 318 | rs879254738 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9454 | P01130 (LDLR) | H | Y | 327 | rs747507019 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9455 | P01130 (LDLR) | C | F | 329 | rs761954844 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9456 | P01130 (LDLR) | C | Y | 329 | rs761954844 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9457 | P01130 (LDLR) | G | S | 335 | rs544453230 | Benign |
9458 | P01130 (LDLR) | C | S | 338 | rs879254753 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9459 | P01130 (LDLR) | D | E | 342 | rs780563386 | Benign |
9460 | P01130 (LDLR) | R | P | 350 | rs875989914 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9461 | P01130 (LDLR) | C | Y | 352 | rs193922566 | Benign |
9462 | P01130 (LDLR) | D | G | 354 | rs755449669 | Benign |
9463 | P01130 (LDLR) | D | V | 354 | rs755449669 | Benign |
9464 | P01130 (LDLR) | D | Y | 356 | rs767767730 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9465 | P01130 (LDLR) | E | K | 357 | rs879254781 | Benign |
9466 | P01130 (LDLR) | C | Y | 358 | rs875989915 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9467 | P01130 (LDLR) | C | R | 364 | rs879254787 | Benign |
9468 | P01130 (LDLR) | Q | R | 366 | rs746982741 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9469 | P01130 (LDLR) | C | R | 368 | rs879254791 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9470 | P01130 (LDLR) | N | T | 370 | rs879254792 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9471 | P01130 (LDLR) | C | R | 379 | rs879254803 | Benign |
9472 | P01130 (LDLR) | C | Y | 379 | rs879254804 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9473 | P01130 (LDLR) | A | T | 391 | rs11669576 | Benign |
9474 | P01130 (LDLR) | A | D | 399 | rs875989918 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9475 | P01130 (LDLR) | L | H | 401 | rs121908038 | Benign |
9476 | P01130 (LDLR) | L | V | 401 | rs146200173 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9477 | P01130 (LDLR) | F | L | 403 | rs879254831 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9478 | P01130 (LDLR) | R | Q | 406 | rs552422789 | Benign |
9479 | P01130 (LDLR) | L | R | 414 | rs748554592 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9480 | P01130 (LDLR) | D | G | 415 | rs879254845 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9481 | P01130 (LDLR) | R | Q | 416 | rs773658037 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9482 | P01130 (LDLR) | R | W | 416 | rs570942190 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9483 | P01130 (LDLR) | I | T | 423 | rs879254849 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9484 | P01130 (LDLR) | V | M | 429 | rs28942078 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9485 | P01130 (LDLR) | L | V | 432 | rs730882100 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9486 | P01130 (LDLR) | D | H | 433 | rs121908036 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9487 | P01130 (LDLR) | I | M | 441 | rs5933 | Benign |
9488 | P01130 (LDLR) | I | N | 441 | rs879254862 | Benign |
9489 | P01130 (LDLR) | W | C | 443 | rs879254867 | Benign |
9490 | P01130 (LDLR) | I | T | 451 | rs879254874 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9491 | P01130 (LDLR) | T | N | 454 | rs879254879 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9492 | P01130 (LDLR) | V | I | 468 | rs5932 | Benign |
9493 | P01130 (LDLR) | R | G | 471 | rs879254891 | Benign |
9494 | P01130 (LDLR) | G | R | 478 | rs144614838 | Benign |
9495 | P01130 (LDLR) | L | P | 479 | rs879254900 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9496 | P01130 (LDLR) | D | H | 482 | rs139624145 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9497 | P01130 (LDLR) | W | R | 483 | rs879254905 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9498 | P01130 (LDLR) | H | R | 485 | rs879254906 | Benign |
9499 | P01130 (LDLR) | V | M | 523 | rs28942080 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9500 | P01130 (LDLR) | G | D | 546 | rs28942081 | Benign |
9501 | P01130 (LDLR) | G | D | 549 | rs28941776 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9502 | P01130 (LDLR) | N | H | 564 | rs397509365 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9503 | P01130 (LDLR) | N | S | 564 | rs758194385 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9504 | P01130 (LDLR) | G | V | 565 | rs28942082 | Benign |
9505 | P01130 (LDLR) | L | V | 568 | rs746959386 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9506 | P01130 (LDLR) | R | C | 574 | rs185098634 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9507 | P01130 (LDLR) | W | G | 577 | rs879255000 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9508 | P01130 (LDLR) | D | N | 579 | rs875989929 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9509 | P01130 (LDLR) | D | Y | 579 | rs875989929 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9510 | P01130 (LDLR) | G | E | 592 | rs137929307 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9511 | P01130 (LDLR) | L | S | 599 | rs879255025 | Benign |
9512 | P01130 (LDLR) | P | S | 608 | rs879255034 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9513 | P01130 (LDLR) | R | C | 633 | rs746118995 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9514 | P01130 (LDLR) | V | D | 639 | rs794728584 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9515 | P01130 (LDLR) | P | L | 649 | rs879255081 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9516 | P01130 (LDLR) | C | Y | 667 | rs28942083 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9517 | P01130 (LDLR) | C | R | 677 | rs775092314 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9518 | P01130 (LDLR) | L | P | 682 | rs879255119 | Benign |
9519 | P01130 (LDLR) | P | L | 685 | rs28942084 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9520 | P01130 (LDLR) | D | E | 700 | rs759858813 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9521 | P01130 (LDLR) | E | K | 714 | rs869320652 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9522 | P01130 (LDLR) | T | I | 742 | rs767546791 | Benign |
9523 | P01130 (LDLR) | I | F | 792 | rs761123215 | Benign |
9524 | P01130 (LDLR) | V | M | 797 | rs750518671 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9525 | P01130 (LDLR) | N | K | 825 | rs374045590 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9526 | P01130 (LDLR) | P | S | 826 | - | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9527 | P01130 (LDLR) | V | I | 827 | rs137853964 | Benign |
9528 | P01130 (LDLR) | Y | C | 828 | rs28942085 | Disease: Familial hypercholest erolemia (FH) [MIM:143890] |
9529 | P01130 (LDLR) | G | D | 844 | rs121908037 | Benign |
9530 | P01133 (EGF) | S | R | 16 | rs11568849 | Benign |
9531 | P01133 (EGF) | H | Y | 151 | rs9991664 | Benign |
9532 | P01133 (EGF) | D | H | 257 | rs11568911 | Benign |
9533 | P01133 (EGF) | L | H | 292 | rs35191533 | Benign |
9534 | P01133 (EGF) | R | K | 431 | rs11568943 | Benign |
9535 | P01133 (EGF) | S | R | 638 | rs11568992 | Benign |
9536 | P01133 (EGF) | M | I | 708 | rs2237051 | Benign |
9537 | P01133 (EGF) | G | R | 723 | rs6413481 | Benign |
9538 | P01133 (EGF) | D | V | 784 | rs11569017 | Benign |
9539 | P01133 (EGF) | M | T | 842 | rs11569046 | Benign |
9540 | P01133 (EGF) | E | V | 920 | rs4698803 | Benign |
9541 | P01133 (EGF) | D | E | 981 | rs11569086 | Benign |
9542 | P01133 (EGF) | L | F | 1043 | rs11569098 | Benign |
9543 | P01133 (EGF) | P | L | 1070 | rs121434567 | Disease: Hypomagnesem ia 4 (HOMG4) [MIM:611718] |
9544 | P01133 (EGF) | A | G | 1084 | rs11569111 | Benign |
9545 | P01135 (TGFA) | V | M | 109 | rs11466259 | Benign |
9546 | P01137 (TGFB1) | L | P | 10 | rs1800470 | Benign |
9547 | P01137 (TGFB1) | R | P | 25 | rs1800471 | Benign |
9548 | P01137 (TGFB1) | R | C | 45 | - | Disease: Inflammatory bowel disease, immunodefici ency, and encephalopat hy (IBDIMDE) [MIM:618213] |
9549 | P01137 (TGFB1) | Y | H | 81 | - | Disease: Camurati- Engelmann disease (CAEND) [MIM:131300] |
9550 | P01137 (TGFB1) | R | C | 110 | - | Disease: Inflammatory bowel disease, immunodefici ency, and encephalopat hy (IBDIMDE) [MIM:618213] |
9551 | P01137 (TGFB1) | R | C | 218 | - | Disease: Camurati- Engelmann disease (CAEND) [MIM:131300] |
9552 | P01137 (TGFB1) | R | H | 218 | - | Disease: Camurati- Engelmann disease (CAEND) [MIM:131300] |
9553 | P01137 (TGFB1) | H | D | 222 | - | Disease: Camurati- Engelmann disease (CAEND) [MIM:131300] |
9554 | P01137 (TGFB1) | C | G | 223 | - | Disease: Camurati- Engelmann disease (CAEND) [MIM:131300] |
9555 | P01137 (TGFB1) | C | R | 223 | - | Disease: Camurati- Engelmann disease (CAEND) [MIM:131300] |
9556 | P01137 (TGFB1) | C | R | 225 | - | Disease: Camurati- Engelmann disease (CAEND) [MIM:131300] |
9557 | P01137 (TGFB1) | T | I | 263 | rs1800472 | Benign |
9558 | P01137 (TGFB1) | C | R | 387 | - | Disease: Inflammatory bowel disease, immunodefici ency, and encephalopat hy (IBDIMDE) [MIM:618213] |
9559 | P01138 (NGF) | A | V | 35 | rs6330 | Benign |
9560 | P01138 (NGF) | V | M | 72 | rs11466110 | Benign |
9561 | P01138 (NGF) | R | Q | 80 | rs11466111 | Benign |
9562 | P01138 (NGF) | R | W | 221 | rs11466112 | Disease: Neuropathy, hereditary sensory and autonomic, 5 (HSAN5) [MIM:608654] |
9563 | P01148 (GNRH1) | W | S | 16 | rs6185 | Benign |
9564 | P01160 (NPPA) | V | M | 32 | rs5063 | Benign |
9565 | P01160 (NPPA) | R | Q | 150 | rs202102042 | Disease: Atrial standstill 2 (ATRST2) [MIM:615745] |
9566 | P01185 (AVP) | S | F | 17 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9567 | P01185 (AVP) | A | T | 19 | rs387906511 | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9568 | P01185 (AVP) | A | V | 19 | rs387906512 | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9569 | P01185 (AVP) | Y | H | 21 | rs121964893 | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9570 | P01185 (AVP) | P | L | 26 | rs142886338 | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9571 | P01185 (AVP) | G | R | 45 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9572 | P01185 (AVP) | G | V | 48 | rs121964883 | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9573 | P01185 (AVP) | R | C | 51 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9574 | P01185 (AVP) | C | R | 52 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9575 | P01185 (AVP) | G | R | 54 | rs121964888 | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9576 | P01185 (AVP) | G | V | 54 | rs121964887 | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9577 | P01185 (AVP) | P | L | 55 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9578 | P01185 (AVP) | C | F | 58 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9579 | P01185 (AVP) | C | R | 59 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9580 | P01185 (AVP) | C | Y | 59 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9581 | P01185 (AVP) | V | A | 67 | rs28934878 | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9582 | P01185 (AVP) | E | G | 78 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9583 | P01185 (AVP) | L | P | 81 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9584 | P01185 (AVP) | P | L | 82 | rs5195 | Benign |
9585 | P01185 (AVP) | S | F | 87 | rs121964890 | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9586 | P01185 (AVP) | G | R | 88 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9587 | P01185 (AVP) | G | S | 88 | rs121964882 | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9588 | P01185 (AVP) | C | S | 92 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9589 | P01185 (AVP) | C | Y | 92 | rs121964891 | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9590 | P01185 (AVP) | G | W | 93 | rs121964885 | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9591 | P01185 (AVP) | G | C | 96 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9592 | P01185 (AVP) | G | D | 96 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9593 | P01185 (AVP) | G | V | 96 | rs121964886 | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9594 | P01185 (AVP) | R | C | 97 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9595 | P01185 (AVP) | R | P | 97 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9596 | P01185 (AVP) | C | G | 98 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9597 | P01185 (AVP) | C | S | 98 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9598 | P01185 (AVP) | A | P | 99 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9599 | P01185 (AVP) | C | F | 104 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9600 | P01185 (AVP) | C | G | 104 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9601 | P01185 (AVP) | C | R | 105 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9602 | P01185 (AVP) | C | Y | 105 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9603 | P01185 (AVP) | C | G | 116 | rs74315383 | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9604 | P01185 (AVP) | C | R | 116 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9605 | P01185 (AVP) | C | W | 116 | - | Disease: Diabetes insipidus, neurohypophy seal (NDI) [MIM:125700] |
9606 | P01185 (AVP) | G | V | 119 | rs1051744 | Benign |
9607 | P01189 (POMC) | S | T | 7 | - | Benign |
9608 | P01189 (POMC) | S | L | 9 | rs139750421 | Benign |
9609 | P01189 (POMC) | P | L | 62 | rs28932471 | Benign |
9610 | P01189 (POMC) | D | N | 106 | rs750136455 | Benign |
9611 | P01189 (POMC) | P | A | 132 | rs8192606 | Benign |
9612 | P01189 (POMC) | E | G | 214 | rs80326661 | Benign |
9613 | P01189 (POMC) | R | G | 236 | rs28932472 | Benign |
9614 | P01189 (POMC) | R | Q | 236 | - | Benign |
9615 | P01210 (PENK) | T | N | 83 | rs11998459 | Benign |
9616 | P01210 (PENK) | G | D | 247 | rs1800567 | Benign |
9617 | P01213 (PDYN) | C | Y | 22 | rs773876922 | Disease: Spinocerebel lar ataxia 23 (SCA23) [MIM:610245] |
9618 | P01213 (PDYN) | R | Q | 25 | rs369559888 | Benign |
9619 | P01213 (PDYN) | R | S | 138 | rs267606941 | Disease: Spinocerebel lar ataxia 23 (SCA23) [MIM:610245] |
9620 | P01213 (PDYN) | R | C | 206 | rs575606358 | Disease: Spinocerebel lar ataxia 23 (SCA23) [MIM:610245] |
9621 | P01213 (PDYN) | R | H | 206 | rs1004881058 | Disease: Spinocerebel lar ataxia 23 (SCA23) [MIM:610245] |
9622 | P01213 (PDYN) | L | S | 211 | rs267606940 | Disease: Spinocerebel lar ataxia 23 (SCA23) [MIM:610245] |
9623 | P01213 (PDYN) | R | W | 212 | rs201486601 | Disease: Spinocerebel lar ataxia 23 (SCA23) [MIM:610245] |
9624 | P01213 (PDYN) | R | C | 215 | rs267606939 | Disease: Spinocerebel lar ataxia 23 (SCA23) [MIM:610245] |
9625 | P01213 (PDYN) | G | D | 227 | - | Disease: Spinocerebel lar ataxia 23 (SCA23) [MIM:610245] |
9626 | P01222 (TSHB) | T | A | 14 | rs10776792 | Benign |
9627 | P01225 (FSHB) | S | I | 20 | rs6170 | Benign |
9628 | P01225 (FSHB) | C | G | 69 | rs5030776 | Disease: Hypogonadotr opic hypogonadism 24 without anosmia (HH24) [MIM:229070] |
9629 | P01229 (LHB) | M | I | 15 | rs34247911 | Benign |
9630 | P01229 (LHB) | A | T | 18 | rs5030775 | Benign |
9631 | P01229 (LHB) | W | R | 28 | rs1800447 | Benign |
9632 | P01229 (LHB) | I | T | 35 | rs34349826 | Benign |
9633 | P01229 (LHB) | Q | R | 74 | rs5030773 | Disease: Hypogonadotr opic hypogonadism 23 without anosmia (HH23) [MIM:228300] |
9634 | P01229 (LHB) | G | S | 122 | rs5030774 | Benign |
9635 | P01241 (GH1) | T | A | 3 | rs2001345 | Benign |
9636 | P01241 (GH1) | L | P | 16 | - | Disease: Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
9637 | P01241 (GH1) | D | N | 37 | - | Disease: Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
9638 | P01241 (GH1) | R | C | 42 | rs71640273 | Disease: Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
9639 | P01241 (GH1) | T | I | 53 | - | Disease: Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
9640 | P01241 (GH1) | K | R | 67 | - | Disease: Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
9641 | P01241 (GH1) | N | D | 73 | rs71640276 | Disease: Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
9642 | P01241 (GH1) | C | S | 79 | rs137853222 | Benign |
9643 | P01241 (GH1) | S | F | 97 | - | Disease: Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
9644 | P01241 (GH1) | E | K | 100 | - | Disease: Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
9645 | P01241 (GH1) | R | C | 103 | rs137853220 | Disease: Kowarski syndrome (KWKS) [MIM:262650] |
9646 | P01241 (GH1) | S | C | 105 | rs6174 | Benign |
9647 | P01241 (GH1) | Q | L | 117 | - | Disease: Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
9648 | P01241 (GH1) | S | C | 134 | - | Disease: Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
9649 | P01241 (GH1) | S | R | 134 | - | Disease: Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
9650 | P01241 (GH1) | V | I | 136 | rs5388 | Benign |
9651 | P01241 (GH1) | D | G | 138 | rs137853221 | Disease: Kowarski syndrome (KWKS) [MIM:262650] |
9652 | P01241 (GH1) | T | A | 201 | - | Disease: Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
9653 | P01241 (GH1) | I | M | 205 | rs148474991 | Benign |
9654 | P01241 (GH1) | R | H | 209 | rs137853223 | Disease: Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100] |
9655 | P01242 (GH2) | R | W | 90 | rs5389 | Benign |
9656 | P01258 (CALCA) | G | R | 2 | rs34587547 | Benign |
9657 | P01258 (CALCA) | D | N | 57 | rs5239 | Benign |
9658 | P01258 (CALCA) | E | K | 67 | rs34164367 | Benign |
9659 | P01258 (CALCA) | S | R | 76 | rs5241 | Benign |
9660 | P01258 (CALCA) | S | T | 123 | rs34414857 | Benign |
9661 | P01258 (CALCA) | Q | P | 138 | rs13306224 | Benign |
9662 | P01266 (TG) | Q | H | 135 | rs2069546 | Benign |
9663 | P01266 (TG) | C | Y | 183 | - | Disease: Thyroid dyshormonoge nesis 3 (TDH3) [MIM:274700] |
9664 | P01266 (TG) | Q | E | 515 | rs180222 | Benign |
9665 | P01266 (TG) | S | D | 604 | rs2069547 | Benign |
9666 | P01266 (TG) | G | D | 653 | rs2069548 | Benign |
9667 | P01266 (TG) | S | A | 734 | rs180223 | Benign |
9668 | P01266 (TG) | P | L | 777 | rs3739274 | Benign |
9669 | P01266 (TG) | G | R | 815 | rs16904774 | Benign |
9670 | P01266 (TG) | Q | E | 830 | rs2076737 | Benign |
9671 | P01266 (TG) | Q | H | 870 | rs2229843 | Benign |
9672 | P01266 (TG) | R | P | 988 | rs16893332 | Benign |
9673 | P01266 (TG) | M | V | 1028 | rs853326 | Benign |
9674 | P01266 (TG) | H | Y | 1043 | rs143983705 | Benign |
9675 | P01266 (TG) | I | T | 1059 | rs1016185504 | Benign |
9676 | P01266 (TG) | L | M | 1063 | rs11992497 | Benign |
9677 | P01266 (TG) | S | L | 1222 | rs12549018 | Benign |
9678 | P01266 (TG) | C | R | 1264 | rs2076738 | Disease: Thyroid dyshormonoge nesis 3 (TDH3) [MIM:274700] |
9679 | P01266 (TG) | D | G | 1312 | rs2069556 | Benign |
9680 | P01266 (TG) | W | R | 1437 | rs2069558 | Benign |
9681 | P01266 (TG) | P | H | 1463 | - | Benign |
9682 | P01266 (TG) | T | K | 1740 | rs16904791 | Benign |
9683 | P01266 (TG) | D | N | 1838 | rs2069561 | Benign |
9684 | P01266 (TG) | C | Y | 1897 | rs121912649 | Disease: Thyroid dyshormonoge nesis 3 (TDH3) [MIM:274700] |
9685 | P01266 (TG) | A | T | 1936 | rs2069562 | Benign |
9686 | P01266 (TG) | M | T | 1974 | rs56230101 | Benign |
9687 | P01266 (TG) | R | W | 1979 | - | Benign |
9688 | P01266 (TG) | C | S | 1996 | rs2076739 | Disease: Thyroid dyshormonoge nesis 3 (TDH3) [MIM:274700] |
9689 | P01266 (TG) | R | W | 1999 | rs2076740 | Benign |
9690 | P01266 (TG) | D | E | 2091 | - | Benign |
9691 | P01266 (TG) | P | L | 2149 | rs2069564 | Benign |
9692 | P01266 (TG) | Q | R | 2170 | rs2069565 | Benign |
9693 | P01266 (TG) | A | D | 2234 | rs370991693 | Disease: Thyroid dyshormonoge nesis 3 (TDH3) [MIM:274700] |
9694 | P01266 (TG) | R | H | 2242 | rs2069566 | Benign |
9695 | P01266 (TG) | R | Q | 2336 | rs121912650 | Disease: Thyroid dyshormonoge nesis 3 (TDH3) [MIM:274700] |
9696 | P01266 (TG) | G | R | 2375 | rs137854434 | Disease: Thyroid dyshormonoge nesis 3 (TDH3) [MIM:274700] |
9697 | P01266 (TG) | R | H | 2455 | rs2272707 | Benign |
9698 | P01266 (TG) | L | P | 2469 | rs2069568 | Benign |
9699 | P01266 (TG) | W | R | 2501 | rs2069569 | Benign |
9700 | P01266 (TG) | F | L | 2526 | rs12114109 | Benign |
9701 | P01266 (TG) | R | Q | 2530 | rs1133076 | Benign |
9702 | P01266 (TG) | N | S | 2616 | rs10091530 | Benign |
9703 | P01270 (PTH) | C | R | 18 | rs104894271 | Disease: Hypoparathyr oidism, familial isolated (FIH) [MIM:146200] |
9704 | P01270 (PTH) | S | P | 23 | rs104894272 | Disease: Hypoparathyr oidism, familial isolated (FIH) [MIM:146200] |
9705 | P01275 (GCG) | A | V | 115 | rs5650 | Benign |
9706 | P01286 (GHRH) | Y | C | 32 | rs17787698 | Benign |
9707 | P01286 (GHRH) | L | F | 75 | rs4988492 | Benign |
9708 | P01298 (PPY) | E | G | 78 | rs7215698 | Benign |
9709 | P01303 (NPY) | L | P | 7 | rs16139 | Benign |
9710 | P01303 (NPY) | L | M | 22 | rs5571 | Benign |
9711 | P01308 (INS) | R | C | 6 | rs121908278 | Disease: Maturity- onset diabetes of the young 10 (MODY10) [MIM:613370] |
9712 | P01308 (INS) | R | H | 6 | rs121908259 | Disease: Maturity- onset diabetes of the young 10 (MODY10) [MIM:613370] |
9713 | P01308 (INS) | A | D | 24 | rs80356663 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9714 | P01308 (INS) | H | D | 29 | rs121908272 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9715 | P01308 (INS) | G | R | 32 | rs80356664 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9716 | P01308 (INS) | G | S | 32 | rs80356664 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9717 | P01308 (INS) | H | D | 34 | rs121918101 | Disease: Hyperproinsu linemia (HPRI) [MIM:616214] |
9718 | P01308 (INS) | L | P | 35 | rs121908273 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9719 | P01308 (INS) | C | G | 43 | rs80356666 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9720 | P01308 (INS) | R | Q | 46 | rs121908260 | Disease: Maturity- onset diabetes of the young 10 (MODY10) [MIM:613370] |
9721 | P01308 (INS) | G | V | 47 | rs80356667 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9722 | P01308 (INS) | F | S | 48 | rs80356668 | Benign |
9723 | P01308 (INS) | F | C | 48 | rs80356668 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9724 | P01308 (INS) | F | L | 49 | rs148685531 | Benign |
9725 | P01308 (INS) | R | C | 55 | rs121908261 | Disease: Diabetes mellitus, insulin- dependent, 2 (IDDM2) [MIM:125852] |
9726 | P01308 (INS) | L | M | 68 | rs121908279 | Benign |
9727 | P01308 (INS) | R | C | 89 | rs80356669 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9728 | P01308 (INS) | R | H | 89 | rs28933985 | Disease: Hyperproinsu linemia (HPRI) [MIM:616214] |
9729 | P01308 (INS) | R | L | 89 | rs28933985 | Disease: Hyperproinsu linemia (HPRI) [MIM:616214] |
9730 | P01308 (INS) | G | C | 90 | rs80356670 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9731 | P01308 (INS) | V | L | 92 | rs121918102 | Benign |
9732 | P01308 (INS) | C | S | 96 | rs80356671 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9733 | P01308 (INS) | C | Y | 96 | rs80356671 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9734 | P01308 (INS) | S | C | 101 | rs121908276 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9735 | P01308 (INS) | Y | C | 103 | rs121908277 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9736 | P01308 (INS) | Y | C | 108 | rs80356672 | Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
9737 | P01344 (IGF2) | K | N | 120 | rs14367 | Benign |
9738 | P01344 (IGF2) | P | Q | 173 | rs1050342 | Benign |
9739 | P01344 (IGF2) | K | N | 180 | rs12993 | Benign |
9740 | P01350 (GAST) | R | P | 3 | rs34309618 | Benign |
9741 | P01374 (LTA) | C | R | 13 | rs2229094 | Benign |
9742 | P01374 (LTA) | H | P | 51 | rs2229092 | Benign |
9743 | P01374 (LTA) | T | N | 60 | rs1041981 | Benign |
9744 | P01374 (LTA) | T | P | 125 | - | Benign |
9745 | P01375 (TNF) | P | L | 84 | rs4645843 | Benign |
9746 | P01375 (TNF) | A | T | 94 | rs1800620 | Benign |
9747 | P01562 (IFNA1) | V | A | 10 | rs1758567 | Benign |
9748 | P01562 (IFNA1) | A | V | 137 | rs2230050 | Benign |
9749 | P01562 (IFNA1) | A | G | 163 | rs28383794 | Benign |
9750 | P01563 (IFNA2) | A | D | 6 | rs35971916 | Benign |
9751 | P01563 (IFNA2) | K | R | 46 | rs1061959 | Benign |
9752 | P01563 (IFNA2) | H | R | 57 | rs73420190 | Benign |
9753 | P01566 (IFNA10) | G | A | 42 | rs2230853 | Benign |
9754 | P01568 (IFNA21) | L | M | 119 | rs1053885 | Benign |
9755 | P01568 (IFNA21) | K | E | 179 | rs3750478 | Benign |
9756 | P01571 (IFNA17) | I | R | 184 | rs9298814 | Benign |
9757 | P01579 (IFNG) | K | Q | 29 | - | Benign |
9758 | P01579 (IFNG) | R | Q | 160 | rs201359065 | Benign |
9759 | P01583 (IL1A) | R | Q | 85 | rs3783531 | Benign |
9760 | P01583 (IL1A) | A | S | 114 | rs17561 | Benign |
9761 | P01583 (IL1A) | N | D | 125 | rs17562 | Benign |
9762 | P01583 (IL1A) | D | N | 138 | rs3783581 | Benign |
9763 | P01583 (IL1A) | D | H | 176 | rs1801715 | Benign |
9764 | P01584 (IL1B) | E | N | 141 | rs144640380 | Benign |
9765 | P01588 (EPO) | R | Q | 177 | rs1358275550 | Disease: Diamond- Blackfan anemia-like (DBAL) [MIM:617911] |
9766 | P01589 (IL2RA) | Y | S | 41 | rs796051888 | Disease: Immunodefici ency 41 with lymphoprolif eration and autoimmunity (IMD41) [MIM:606367] |
9767 | P01589 (IL2RA) | S | N | 166 | rs796051887 | Disease: Immunodefici ency 41 with lymphoprolif eration and autoimmunity (IMD41) [MIM:606367] |
9768 | P01589 (IL2RA) | I | T | 272 | rs12722712 | Benign |
9769 | P01601 (IGKV1D-16) | S | R | 48 | - | Benign |
9770 | P01602 (IGKV1-5) | K | D | 72 | - | Benign |
9771 | P01730 (CD4) | K | E | 191 | rs28917504 | Benign |
9772 | P01730 (CD4) | F | S | 227 | rs11064419 | Benign |
9773 | P01730 (CD4) | R | W | 265 | rs28919570 | Benign |
9774 | P01732 (CD8A) | G | S | 111 | rs121918660 | Disease: CD8 deficiency, familial (CD8 deficiency) [MIM:608957] |
9775 | P01743 (IGHV1-46) | T | N | 49 | - | Benign |
9776 | P01764 (IGHV3-23) | V | L | 24 | - | Benign |
9777 | P01764 (IGHV3-23) | A | G | 80 | - | Benign |
9778 | P01833 (PIGR) | G | S | 365 | rs2275531 | Benign |
9779 | P01833 (PIGR) | T | I | 555 | rs7542760 | Benign |
9780 | P01833 (PIGR) | A | V | 580 | rs291102 | Benign |
9781 | P01834 (IGKC) | W | R | 41 | - | Disease: Immunoglobul in kappa light chain deficiency (IGKCD) [MIM:614102] |
9782 | P01834 (IGKC) | V | L | 84 | - | Benign |
9783 | P01854 (IGHE) | W | C | 43 | - | Benign |
9784 | P01854 (IGHE) | W | L | 359 | - | Benign |
9785 | P01857 (IGHG1) | K | R | 97 | - | Benign |
9786 | P01857 (IGHG1) | D | E | 239 | - | Benign |
9787 | P01857 (IGHG1) | L | M | 241 | - | Benign |
9788 | P01859 (IGHG2) | S | A | 60 | - | Benign |
9789 | P01859 (IGHG2) | S | A | 257 | - | Benign |
9790 | P01871 (IGHM) | F | L | 40 | - | Benign |
9791 | P01871 (IGHM) | G | S | 191 | - | Benign |
9792 | P01871 (IGHM) | V | G | 215 | rs12365 | Benign |
9793 | P01871 (IGHM) | E | D | 418 | - | Benign |
9794 | P01876 (IGHA1) | E | D | 176 | rs1407 | Benign |
9795 | P01877 (IGHA2) | S | P | 93 | - | Benign |
9796 | P01877 (IGHA2) | R | P | 102 | - | Benign |
9797 | P01877 (IGHA2) | Y | F | 279 | - | Benign |
9798 | P01877 (IGHA2) | E | D | 296 | - | Benign |
9799 | P01877 (IGHA2) | I | V | 326 | - | Benign |
9800 | P01877 (IGHA2) | A | V | 335 | - | Benign |
9801 | P01889 (HLA-B) | L | R | 2 | - | Benign |
9802 | P01889 (HLA-B) | M | T | 4 | rs1050458 | Benign |
9803 | P01889 (HLA-B) | V | L | 9 | - | Benign |
9804 | P01889 (HLA-B) | S | W | 14 | - | Benign |
9805 | P01889 (HLA-B) | A | G | 15 | - | Benign |
9806 | P01889 (HLA-B) | L | V | 17 | - | Benign |
9807 | P01889 (HLA-B) | Y | D | 33 | - | Benign |
9808 | P01889 (HLA-B) | Y | H | 33 | - | Benign |
9809 | P01889 (HLA-B) | S | A | 35 | rs1131170 | Benign |
9810 | P01889 (HLA-B) | V | M | 36 | rs1050486 | Benign |
9811 | P01889 (HLA-B) | S | A | 48 | rs713031 | Benign |
9812 | P01889 (HLA-B) | S | T | 48 | rs713031 | Benign |
9813 | P01889 (HLA-B) | D | G | 54 | - | Benign |
9814 | P01889 (HLA-B) | Q | L | 56 | - | Benign |
9815 | P01889 (HLA-B) | A | T | 65 | - | Benign |
9816 | P01889 (HLA-B) | E | G | 69 | - | Benign |
9817 | P01889 (HLA-B) | E | K | 69 | - | Benign |
9818 | P01889 (HLA-B) | E | M | 69 | - | Benign |
9819 | P01889 (HLA-B) | E | T | 69 | - | Benign |
9820 | P01889 (HLA-B) | E | A | 70 | - | Benign |
9821 | P01889 (HLA-B) | I | V | 76 | - | Benign |
9822 | P01889 (HLA-B) | R | G | 86 | - | Benign |
9823 | P01889 (HLA-B) | N | E | 87 | - | Benign |
9824 | P01889 (HLA-B) | Q | R | 89 | - | Benign |
9825 | P01889 (HLA-B) | I | K | 90 | - | Benign |
9826 | P01889 (HLA-B) | I | N | 90 | - | Benign |
9827 | P01889 (HLA-B) | Y | C | 91 | - | Benign |
9828 | P01889 (HLA-B) | Y | F | 91 | - | Benign |
9829 | P01889 (HLA-B) | Y | M | 91 | - | Benign |
9830 | P01889 (HLA-B) | Y | S | 91 | - | Benign |
9831 | P01889 (HLA-B) | A | R | 93 | - | Benign |
9832 | P01889 (HLA-B) | A | T | 93 | - | Benign |
9833 | P01889 (HLA-B) | Q | K | 94 | - | Benign |
9834 | P01889 (HLA-B) | Q | N | 94 | - | Benign |
9835 | P01889 (HLA-B) | Q | S | 94 | - | Benign |
9836 | P01889 (HLA-B) | A | T | 95 | - | Benign |
9837 | P01889 (HLA-B) | D | Y | 98 | rs1131215 | Benign |
9838 | P01889 (HLA-B) | E | V | 100 | - | Benign |
9839 | P01889 (HLA-B) | S | D | 101 | - | Benign |
9840 | P01889 (HLA-B) | S | G | 101 | - | Benign |
9841 | P01889 (HLA-B) | S | N | 101 | rs1050388 | Benign |
9842 | P01889 (HLA-B) | N | I | 104 | - | Benign |
9843 | P01889 (HLA-B) | N | T | 104 | - | Benign |
9844 | P01889 (HLA-B) | L | A | 105 | - | Benign |
9845 | P01889 (HLA-B) | R | L | 106 | - | Benign |
9846 | P01889 (HLA-B) | G | R | 107 | - | Benign |
9847 | P01889 (HLA-B) | A | D | 114 | - | Benign |
9848 | P01889 (HLA-B) | T | I | 118 | - | Benign |
9849 | P01889 (HLA-B) | L | I | 119 | - | Benign |
9850 | P01889 (HLA-B) | L | W | 119 | - | Benign |
9851 | P01889 (HLA-B) | S | N | 121 | - | Benign |
9852 | P01889 (HLA-B) | S | R | 121 | rs1140412 | Benign |
9853 | P01889 (HLA-B) | S | T | 121 | - | Benign |
9854 | P01889 (HLA-B) | S | V | 121 | - | Benign |
9855 | P01889 (HLA-B) | S | W | 121 | - | Benign |
9856 | P01889 (HLA-B) | Y | F | 123 | - | Benign |
9857 | P01889 (HLA-B) | Y | S | 123 | - | Benign |
9858 | P01889 (HLA-B) | V | L | 127 | - | Benign |
9859 | P01889 (HLA-B) | V | M | 127 | - | Benign |
9860 | P01889 (HLA-B) | H | Y | 137 | - | Benign |
9861 | P01889 (HLA-B) | D | H | 138 | rs709055 | Benign |
9862 | P01889 (HLA-B) | D | N | 138 | rs709055 | Benign |
9863 | P01889 (HLA-B) | Y | D | 140 | - | Benign |
9864 | P01889 (HLA-B) | Y | F | 140 | - | Benign |
9865 | P01889 (HLA-B) | Y | L | 140 | - | Benign |
9866 | P01889 (HLA-B) | Y | S | 140 | - | Benign |
9867 | P01889 (HLA-B) | R | S | 155 | rs1050654 | Benign |
9868 | P01889 (HLA-B) | T | S | 167 | - | Benign |
9869 | P01889 (HLA-B) | R | L | 169 | - | Benign |
9870 | P01889 (HLA-B) | W | L | 171 | - | Benign |
9871 | P01889 (HLA-B) | E | V | 176 | - | Benign |
9872 | P01889 (HLA-B) | R | D | 180 | - | Benign |
9873 | P01889 (HLA-B) | R | L | 180 | - | Benign |
9874 | P01889 (HLA-B) | R | W | 180 | - | Benign |
9875 | P01889 (HLA-B) | A | T | 182 | - | Benign |
9876 | P01889 (HLA-B) | G | D | 186 | - | Benign |
9877 | P01889 (HLA-B) | E | L | 187 | - | Benign |
9878 | P01889 (HLA-B) | E | T | 187 | - | Benign |
9879 | P01889 (HLA-B) | W | S | 191 | - | Benign |
9880 | P01889 (HLA-B) | Y | H | 195 | rs1050696 | Benign |
9881 | P01889 (HLA-B) | D | E | 201 | - | Benign |
9882 | P01889 (HLA-B) | K | T | 202 | - | Benign |
9883 | P01889 (HLA-B) | E | Q | 204 | - | Benign |
9884 | P01889 (HLA-B) | I | V | 218 | - | Benign |
9885 | P01889 (HLA-B) | A | V | 223 | - | Benign |
9886 | P01889 (HLA-B) | R | G | 263 | - | Benign |
9887 | P01889 (HLA-B) | A | T | 269 | - | Benign |
9888 | P01889 (HLA-B) | E | Q | 277 | - | Benign |
9889 | P01889 (HLA-B) | P | Q | 291 | - | Benign |
9890 | P01889 (HLA-B) | K | E | 292 | - | Benign |
9891 | P01889 (HLA-B) | L | C | 294 | - | Benign |
9892 | P01889 (HLA-B) | E | K | 299 | - | Benign |
9893 | P01889 (HLA-B) | V | I | 306 | rs1131500 | Benign |
9894 | P01889 (HLA-B) | A | T | 329 | rs1051488 | Benign |
9895 | P01889 (HLA-B) | M | V | 331 | - | Benign |
9896 | P01889 (HLA-B) | C | S | 349 | rs2308655 | Benign |
9897 | P01903 (HLA-DRA) | V | L | 16 | rs16822586 | Benign |
9898 | P01903 (HLA-DRA) | V | L | 242 | rs7192 | Benign |
9899 | P01906 (HLA-DQA2) | V | A | 227 | rs9276436 | Benign |
9900 | P01906 (HLA-DQA2) | G | D | 247 | rs2071800 | Benign |
9901 | P01909 (HLA-DQA1) | M | L | 8 | rs1047989 | Benign |
9902 | P01909 (HLA-DQA1) | A | T | 11 | rs1047992 | Benign |
9903 | P01909 (HLA-DQA1) | V | M | 17 | rs12722039 | Benign |
9904 | P01909 (HLA-DQA1) | M | T | 18 | rs11545686 | Benign |
9905 | P01909 (HLA-DQA1) | E | K | 24 | rs41545012 | Benign |
9906 | P01909 (HLA-DQA1) | D | G | 25 | rs12722042 | Benign |
9907 | P01909 (HLA-DQA1) | Y | C | 34 | rs1129740 | Benign |
9908 | P01909 (HLA-DQA1) | S | F | 41 | rs1071630 | Benign |
9909 | P01909 (HLA-DQA1) | P | L | 44 | rs41549715 | Benign |
9910 | P01909 (HLA-DQA1) | Y | F | 48 | rs12722051 | Benign |
9911 | P01909 (HLA-DQA1) | T | S | 49 | rs1048023 | Benign |
9912 | P01909 (HLA-DQA1) | Q | E | 57 | rs10093 | Benign |
9913 | P01909 (HLA-DQA1) | G | E | 63 | rs1142323 | Benign |
9914 | P01909 (HLA-DQA1) | R | K | 64 | rs36219699 | Benign |
9915 | P01909 (HLA-DQA1) | T | A | 67 | rs41543221 | Benign |
9916 | P01909 (HLA-DQA1) | V | A | 68 | rs1142324 | Benign |
9917 | P01909 (HLA-DQA1) | C | K | 70 | - | Benign |
9918 | P01909 (HLA-DQA1) | C | Q | 70 | - | Benign |
9919 | P01909 (HLA-DQA1) | C | R | 70 | rs1142326 | Benign |
9920 | P01909 (HLA-DQA1) | C | Y | 70 | rs3207983 | Benign |
9921 | P01909 (HLA-DQA1) | L | W | 71 | rs1142328 | Benign |
9922 | P01909 (HLA-DQA1) | V | D | 73 | rs760671632 | Benign |
9923 | P01909 (HLA-DQA1) | V | E | 73 | rs3208105 | Benign |
9924 | P01909 (HLA-DQA1) | V | L | 73 | rs12722061 | Benign |
9925 | P01909 (HLA-DQA1) | L | F | 74 | rs9272698 | Benign |
9926 | P01909 (HLA-DQA1) | R | H | 75 | rs28383449 | Benign |
9927 | P01909 (HLA-DQA1) | R | S | 75 | rs9272699 | Benign |
9928 | P01909 (HLA-DQA1) | Q | K | 76 | rs1048052 | Benign |
9929 | P01909 (HLA-DQA1) | Q | R | 76 | rs12722069 | Benign |
9930 | P01909 (HLA-DQA1) | F | L | 77 | rs3188043 | Benign |
9931 | P01909 (HLA-DQA1) | P | R | 81 | rs41541412 | Benign |
9932 | P01909 (HLA-DQA1) | F | G | 83 | - | Benign |
9933 | P01909 (HLA-DQA1) | T | R | 86 | rs1142333 | Benign |
9934 | P01909 (HLA-DQA1) | I | M | 88 | rs1142334 | Benign |
9935 | P01909 (HLA-DQA1) | L | A | 91 | - | Benign |
9936 | P01909 (HLA-DQA1) | L | T | 91 | - | Benign |
9937 | P01909 (HLA-DQA1) | S | I | 97 | rs9279910 | Benign |
9938 | P01909 (HLA-DQA1) | L | M | 98 | rs1064944 | Benign |
9939 | P01909 (HLA-DQA1) | L | V | 98 | rs1064944 | Benign |
9940 | P01909 (HLA-DQA1) | R | C | 101 | rs41542116 | Benign |
9941 | P01909 (HLA-DQA1) | S | Y | 102 | rs1129808 | Benign |
9942 | P01909 (HLA-DQA1) | L | V | 124 | rs41555012 | Benign |
9943 | P01909 (HLA-DQA1) | I | T | 129 | rs707952 | Benign |
9944 | P01909 (HLA-DQA1) | H | Q | 151 | rs707950 | Benign |
9945 | P01909 (HLA-DQA1) | S | A | 152 | rs41547417 | Benign |
9946 | P01909 (HLA-DQA1) | T | I | 160 | rs41545514 | Benign |
9947 | P01909 (HLA-DQA1) | S | I | 161 | rs41544114 | Benign |
9948 | P01909 (HLA-DQA1) | S | R | 161 | rs41552014 | Benign |
9949 | P01909 (HLA-DQA1) | Y | H | 175 | rs41550317 | Benign |
9950 | P01909 (HLA-DQA1) | L | F | 178 | rs707949 | Benign |
9951 | P01909 (HLA-DQA1) | A | D | 182 | rs7990 | Benign |
9952 | P01909 (HLA-DQA1) | A | S | 182 | rs41561312 | Benign |
9953 | P01909 (HLA-DQA1) | E | D | 183 | rs707963 | Benign |
9954 | P01909 (HLA-DQA1) | S | I | 185 | rs707962 | Benign |
9955 | P01909 (HLA-DQA1) | K | E | 197 | rs2308891 | Benign |
9956 | P01909 (HLA-DQA1) | K | Q | 197 | rs2308891 | Benign |
9957 | P01909 (HLA-DQA1) | A | T | 209 | rs9272785 | Benign |
9958 | P01909 (HLA-DQA1) | A | T | 221 | rs35087390 | Benign |
9959 | P01909 (HLA-DQA1) | V | M | 229 | rs9260 | Benign |
9960 | P01909 (HLA-DQA1) | G | C | 230 | rs41545416 | Benign |
9961 | P01909 (HLA-DQA1) | F | L | 237 | rs1048430 | Benign |
9962 | P01909 (HLA-DQA1) | R | Q | 240 | rs1048439 | Benign |
9963 | P01911 (HLA-DRB1) | K | R | 5 | - | Benign |
9964 | P01911 (HLA-DRB1) | L | F | 6 | - | Benign |
9965 | P01911 (HLA-DRB1) | T | A | 13 | - | Benign |
9966 | P01911 (HLA-DRB1) | A | V | 14 | - | Benign |
9967 | P01911 (HLA-DRB1) | S | A | 29 | - | Benign |
9968 | P01911 (HLA-DRB1) | R | Q | 33 | - | Benign |
9969 | P01911 (HLA-DRB1) | W | E | 38 | - | Benign |
9970 | P01911 (HLA-DRB1) | W | K | 38 | - | Benign |
9971 | P01911 (HLA-DRB1) | Q | E | 39 | - | Benign |
9972 | P01911 (HLA-DRB1) | Q | Y | 39 | - | Benign |
9973 | P01911 (HLA-DRB1) | P | D | 40 | - | Benign |
9974 | P01911 (HLA-DRB1) | P | G | 40 | - | Benign |
9975 | P01911 (HLA-DRB1) | P | L | 40 | - | Benign |
9976 | P01911 (HLA-DRB1) | P | S | 40 | - | Benign |
9977 | P01911 (HLA-DRB1) | P | V | 40 | - | Benign |
9978 | P01911 (HLA-DRB1) | K | T | 41 | - | Benign |
9979 | P01911 (HLA-DRB1) | R | F | 42 | - | Benign |
9980 | P01911 (HLA-DRB1) | R | G | 42 | - | Benign |
9981 | P01911 (HLA-DRB1) | R | H | 42 | - | Benign |
9982 | P01911 (HLA-DRB1) | R | S | 42 | - | Benign |
9983 | P01911 (HLA-DRB1) | R | Y | 42 | - | Benign |
9984 | P01911 (HLA-DRB1) | E | K | 43 | - | Benign |
9985 | P01911 (HLA-DRB1) | H | Q | 45 | - | Benign |
9986 | P01911 (HLA-DRB1) | H | Y | 45 | - | Benign |
9987 | P01911 (HLA-DRB1) | R | Q | 54 | - | Benign |
9988 | P01911 (HLA-DRB1) | F | L | 55 | - | Benign |
9989 | P01911 (HLA-DRB1) | F | Y | 55 | - | Benign |
9990 | P01911 (HLA-DRB1) | D | E | 57 | - | Benign |
9991 | P01911 (HLA-DRB1) | D | H | 57 | - | Benign |
9992 | P01911 (HLA-DRB1) | Y | C | 59 | - | Benign |
9993 | P01911 (HLA-DRB1) | Y | G | 59 | - | Benign |
9994 | P01911 (HLA-DRB1) | Y | H | 59 | - | Benign |
9995 | P01911 (HLA-DRB1) | Y | L | 59 | - | Benign |
9996 | P01911 (HLA-DRB1) | Y | R | 59 | - | Benign |
9997 | P01911 (HLA-DRB1) | F | I | 60 | - | Benign |
9998 | P01911 (HLA-DRB1) | F | V | 60 | - | Benign |
9999 | P01911 (HLA-DRB1) | Y | H | 61 | - | Benign |
10000 | P01911 (HLA-DRB1) | N | H | 62 | - | Benign |
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