Home Research COVID-19 Services Publications People Teaching Job Opening News Forum Lab Only
Online Services

●I-TASSER ●D-I-TASSER ●I-TASSER-MTD ●C-I-TASSER ●CR-I-TASSER ●QUARK ●C-QUARK ●D-QUARK ●DRfold ●DRfold2 ●LOMETS ●MUSTER ●CEthreader ●SEGMER ●DeepFold ●DeepFoldRNA ●FoldDesign ●COFACTOR ●COACH ●MetaGO ●TripletGO ●IonCom ●FG-MD ●ModRefiner ●REMO ●DEMO ●DEMO-EM ●DMFold ●SPRING ●COTH ●Threpp ●PEPPI ●BSpred ●ANGLOR ●EDock ●BSP-SLIM ●SAXSTER ●FUpred ●ThreaDom ●ThreaDomEx ●EvoDesign ●BindProf ●BindProfX ●SSIPe ●GPCR-I-TASSER ●MAGELLAN ●ResQ ●STRUM ●DAMpred ●TCRfinder

●TM-score ●TM-align ●US-align ●MM-align ●RNA-align ●NW-align ●LS-align ●EDTSurf ●MVP ●MVP-Fit ●SPICKER ●HAAD ●PSSpred ●3DRobot ●MR-REX ●I-TASSER-MR ●SVMSEQ ●NeBcon ●ResPRE ●TripletRes ●DeepPotential ●WDL-RF ●ATPbind ●DockRMSD ●DeepMSA ●DeepMSA2 ●FASPR ●EM-Refiner ●GPU-I-TASSER

●BioLiP ●HPmod ●E. coli ●GLASS ●GPCR-HGmod ●GPCR-RD ●GPCR-EXP ●Tara-3D ●TM-fold ●DECOYS ●POTENTIAL ●RW/RWplus ●EvoEF ●HPSF ●THE-DB ●ADDRESS ●Alpaca-Antibody ●CASP7 ●CASP8 ●CASP9 ●CASP10 ●CASP11 ●CASP12 ●CASP13 ●CASP14

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.

[Browse by structures] [Browse by mutations on structures] [Browse by all mutations] [Statistics and download] [Search]
Go to page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 (total pages: 14; current page: 2)

# 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

Reference

  • Jaie Woodard, Chengxin Zhang, and Yang Zhang (2020) ADDRESS: A database of human disease-associated variants incorporating protein structure, binding and folding stabilities.

    • zhanglabzhanggroup.org | +65-6601-1241 | Computing 1, 13 Computing Drive, Singapore 117417