ADDRESS (Annotated Database of Disease-RElated Sequences and Structures) maps disease-associated/benign mutations from HUMSAVAR to residues on PDB structures. It also performs and integrates structural analysis of mutations, including contact numbers and prediction of free-energy changes upon mutations (ΔΔG) by EvoEF and FoldX. The ADDRESS database can be used for hypothesis assessment and benchmarking of disease-associated prediction algorithms.
# | UniProt accession (Gene in neXtProt) |
Wild type amino acid | Mutant amino acid | Residue index in UniProt | dbSNP | Disease association [OMIM ID] |
---|---|---|---|---|---|---|
60001 | Q9BWV7 (TTLL2) | P | S | 63 | rs34350976 | Benign |
60002 | Q9BWV7 (TTLL2) | T | A | 127 | rs11540664 | Benign |
60003 | Q9BWV7 (TTLL2) | L | P | 202 | rs6936639 | Benign |
60004 | Q9BWV7 (TTLL2) | I | V | 356 | rs34286114 | Benign |
60005 | Q9BWV7 (TTLL2) | R | G | 425 | rs909545 | Benign |
60006 | Q9BWV7 (TTLL2) | K | T | 441 | rs41266331 | Benign |
60007 | Q9BWV7 (TTLL2) | G | S | 445 | rs9457304 | Benign |
60008 | Q9BWV7 (TTLL2) | Q | H | 529 | rs12528714 | Benign |
60009 | Q9BWV7 (TTLL2) | V | I | 559 | rs34931196 | Benign |
60010 | Q9BWW7 (SCRT1) | S | A | 133 | rs7013127 | Benign |
60011 | Q9BWW8 (APOL6) | N | K | 173 | rs5999923 | Benign |
60012 | Q9BWW9 (APOL5) | E | K | 81 | rs5999985 | Benign |
60013 | Q9BWW9 (APOL5) | T | M | 272 | rs2076671 | Benign |
60014 | Q9BWW9 (APOL5) | T | M | 323 | rs2076672 | Benign |
60015 | Q9BWW9 (APOL5) | S | C | 406 | rs2076673 | Benign |
60016 | Q9BWX5 (GATA5) | Q | R | 3 | rs113068438 | Benign |
60017 | Q9BWX5 (GATA5) | Y | D | 16 | rs1555897088 | Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] |
60018 | Q9BWX5 (GATA5) | S | W | 19 | rs200383755 | Benign |
60019 | Q9BWX5 (GATA5) | T | P | 67 | rs6142775 | Benign |
60020 | Q9BWX5 (GATA5) | Y | F | 138 | - | Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] |
60021 | Q9BWX5 (GATA5) | G | S | 166 | rs141950357 | Benign |
60022 | Q9BWX5 (GATA5) | R | G | 187 | - | Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] |
60023 | Q9BWX5 (GATA5) | L | V | 199 | rs1555896779 | Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] |
60024 | Q9BWX5 (GATA5) | W | G | 200 | rs1555896778 | Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] |
60025 | Q9BWX5 (GATA5) | H | R | 207 | - | Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] |
60026 | Q9BWX5 (GATA5) | C | G | 210 | rs997414695 | Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] |
60027 | Q9BWX5 (GATA5) | G | D | 240 | - | Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] |
60028 | Q9BWX5 (GATA5) | T | P | 252 | - | Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] |
60029 | Q9BX26 (SYCP2) | T | K | 353 | rs13039338 | Benign |
60030 | Q9BX26 (SYCP2) | P | L | 523 | rs1359836 | Benign |
60031 | Q9BX26 (SYCP2) | T | I | 751 | rs6071006 | Benign |
60032 | Q9BX26 (SYCP2) | V | A | 1155 | rs6128714 | Benign |
60033 | Q9BX59 (TAPBPL) | A | V | 42 | rs2041385 | Benign |
60034 | Q9BX59 (TAPBPL) | M | V | 146 | rs2532501 | Benign |
60035 | Q9BX59 (TAPBPL) | G | R | 151 | rs7295376 | Benign |
60036 | Q9BX59 (TAPBPL) | T | A | 165 | rs2532500 | Benign |
60037 | Q9BX59 (TAPBPL) | A | V | 169 | rs2041387 | Benign |
60038 | Q9BX59 (TAPBPL) | T | M | 334 | rs1045546 | Benign |
60039 | Q9BX63 (BRIP1) | P | A | 47 | rs28903098 | Disease: Breast cancer (BC) [MIM:114480] |
60040 | Q9BX63 (BRIP1) | R | C | 173 | rs4988345 | Benign |
60041 | Q9BX63 (BRIP1) | V | I | 193 | rs4988346 | Benign |
60042 | Q9BX63 (BRIP1) | L | P | 195 | rs4988347 | Benign |
60043 | Q9BX63 (BRIP1) | Q | H | 255 | - | Disease: Fanconi anemia complementat ion group J (FANCJ) [MIM:609054] |
60044 | Q9BX63 (BRIP1) | R | W | 264 | rs28997569 | Benign |
60045 | Q9BX63 (BRIP1) | M | I | 299 | rs137852985 | Disease: Breast cancer (BC) [MIM:114480] |
60046 | Q9BX63 (BRIP1) | A | P | 349 | rs149364097 | Disease: Fanconi anemia complementat ion group J (FANCJ) [MIM:609054] |
60047 | Q9BX63 (BRIP1) | R | W | 419 | rs150624408 | Benign |
60048 | Q9BX63 (BRIP1) | F | V | 531 | rs4988350 | Benign |
60049 | Q9BX63 (BRIP1) | Q | L | 540 | rs4988349 | Benign |
60050 | Q9BX63 (BRIP1) | I | M | 633 | rs28997572 | Benign |
60051 | Q9BX63 (BRIP1) | W | C | 647 | rs786202760 | Disease: Fanconi anemia complementat ion group J (FANCJ) [MIM:609054] |
60052 | Q9BX63 (BRIP1) | R | C | 707 | rs764803896 | Disease: Fanconi anemia complementat ion group J (FANCJ) [MIM:609054] |
60053 | Q9BX63 (BRIP1) | C | Y | 832 | rs4988355 | Benign |
60054 | Q9BX63 (BRIP1) | S | P | 919 | rs4986764 | Benign |
60055 | Q9BX63 (BRIP1) | V | G | 935 | rs4988356 | Benign |
60056 | Q9BX63 (BRIP1) | D | E | 1148 | rs28997573 | Benign |
60057 | Q9BX66 (SORBS1) | L | P | 61 | rs943542 | Benign |
60058 | Q9BX66 (SORBS1) | R | W | 74 | rs757431022 | Benign |
60059 | Q9BX66 (SORBS1) | G | V | 175 | rs7081076 | Benign |
60060 | Q9BX66 (SORBS1) | T | A | 237 | rs2281939 | Benign |
60061 | Q9BX66 (SORBS1) | Y | C | 485 | rs35808802 | Benign |
60062 | Q9BX67 (JAM3) | E | K | 116 | rs397515439 | Disease: Hemorrhagic destruction of the brain with subependymal calcificatio n and cataracts (HDBSCC) [MIM:613730] |
60063 | Q9BX67 (JAM3) | C | Y | 219 | rs397515438 | Disease: Hemorrhagic destruction of the brain with subependymal calcificatio n and cataracts (HDBSCC) [MIM:613730] |
60064 | Q9BX69 (CARD6) | S | L | 86 | rs10512747 | Benign |
60065 | Q9BX69 (CARD6) | R | K | 93 | rs7715491 | Benign |
60066 | Q9BX69 (CARD6) | M | K | 395 | rs3812030 | Benign |
60067 | Q9BX69 (CARD6) | D | V | 426 | rs3812031 | Benign |
60068 | Q9BX69 (CARD6) | A | D | 575 | rs36085996 | Benign |
60069 | Q9BX69 (CARD6) | I | V | 576 | rs323562 | Benign |
60070 | Q9BX79 (STRA6) | P | L | 90 | rs118203961 | Disease: Microphthalm ia, syndromic, 9 (MCOPS9) [MIM:601186] |
60071 | Q9BX79 (STRA6) | G | E | 217 | rs909629751 | Benign |
60072 | Q9BX79 (STRA6) | P | L | 293 | rs118203958 | Disease: Microphthalm ia, syndromic, 9 (MCOPS9) [MIM:601186] |
60073 | Q9BX79 (STRA6) | G | K | 304 | rs151341424 | Disease: Microphthalm ia, syndromic, 9 (MCOPS9) [MIM:601186] |
60074 | Q9BX79 (STRA6) | T | P | 321 | rs118203962 | Disease: Microphthalm ia, syndromic, 9 (MCOPS9) [MIM:601186] |
60075 | Q9BX79 (STRA6) | G | S | 339 | rs17852249 | Benign |
60076 | Q9BX79 (STRA6) | Q | R | 438 | rs869025269 | Benign |
60077 | Q9BX79 (STRA6) | L | F | 517 | rs11545567 | Benign |
60078 | Q9BX79 (STRA6) | M | I | 527 | rs736118 | Benign |
60079 | Q9BX79 (STRA6) | R | P | 638 | rs144691445 | Benign |
60080 | Q9BX79 (STRA6) | T | M | 644 | rs118203960 | Disease: Microphthalm ia, syndromic, 9 (MCOPS9) [MIM:601186] |
60081 | Q9BX79 (STRA6) | R | C | 655 | rs118203959 | Disease: Microphthalm ia, syndromic, 9 (MCOPS9) [MIM:601186] |
60082 | Q9BX82 (ZNF471) | M | I | 192 | rs11667052 | Benign |
60083 | Q9BX82 (ZNF471) | Q | R | 309 | rs45487092 | Benign |
60084 | Q9BX82 (ZNF471) | G | D | 406 | rs3752176 | Benign |
60085 | Q9BX82 (ZNF471) | S | C | 556 | rs16987303 | Benign |
60086 | Q9BX84 (TRPM6) | S | L | 141 | rs121912625 | Disease: Hypomagnesem ia 1 (HOMG1) [MIM:602014] |
60087 | Q9BX84 (TRPM6) | M | I | 338 | rs56155062 | Benign |
60088 | Q9BX84 (TRPM6) | L | P | 708 | - | Disease: Hypomagnesem ia 1 (HOMG1) [MIM:602014] |
60089 | Q9BX84 (TRPM6) | E | G | 872 | - | Disease: Hypomagnesem ia 1 (HOMG1) [MIM:602014] |
60090 | Q9BX84 (TRPM6) | F | L | 948 | rs13290391 | Benign |
60091 | Q9BX84 (TRPM6) | Y | C | 1053 | - | Disease: Hypomagnesem ia 1 (HOMG1) [MIM:602014] |
60092 | Q9BX84 (TRPM6) | N | D | 1071 | rs2274922 | Benign |
60093 | Q9BX84 (TRPM6) | L | P | 1143 | - | Disease: Hypomagnesem ia 1 (HOMG1) [MIM:602014] |
60094 | Q9BX84 (TRPM6) | H | R | 1243 | rs55694430 | Benign |
60095 | Q9BX84 (TRPM6) | Q | R | 1274 | rs34608911 | Benign |
60096 | Q9BX84 (TRPM6) | V | I | 1393 | rs3750425 | Benign |
60097 | Q9BX84 (TRPM6) | K | E | 1584 | rs2274924 | Benign |
60098 | Q9BX84 (TRPM6) | Q | R | 1663 | rs55679040 | Benign |
60099 | Q9BX84 (TRPM6) | L | S | 1673 | rs56254742 | Benign |
60100 | Q9BX84 (TRPM6) | T | I | 1724 | rs56290308 | Benign |
60101 | Q9BX84 (TRPM6) | S | N | 1754 | - | Disease: Hypomagnesem ia 1 (HOMG1) [MIM:602014] |
60102 | Q9BX97 (PLVAP) | L | P | 34 | - | Disease: Diarrhea 10, protein- losing enteropathy type (DIAR10) [MIM:618183] |
60103 | Q9BXA7 (TSSK1B) | A | T | 50 | rs747955728 | Benign |
60104 | Q9BXA7 (TSSK1B) | H | Y | 83 | rs55930004 | Benign |
60105 | Q9BXA7 (TSSK1B) | V | L | 233 | rs55940513 | Benign |
60106 | Q9BXA7 (TSSK1B) | R | C | 237 | rs55738530 | Benign |
60107 | Q9BXA7 (TSSK1B) | G | W | 288 | rs34696815 | Benign |
60108 | Q9BXA7 (TSSK1B) | G | E | 293 | rs11953478 | Benign |
60109 | Q9BXA9 (SALL3) | T | A | 533 | rs7240860 | Benign |
60110 | Q9BXA9 (SALL3) | L | V | 593 | rs2447437 | Benign |
60111 | Q9BXB1 (LGR4) | S | G | 215 | rs2448010 | Benign |
60112 | Q9BXB1 (LGR4) | N | S | 233 | rs2472617 | Benign |
60113 | Q9BXB1 (LGR4) | A | V | 480 | rs12284579 | Benign |
60114 | Q9BXB1 (LGR4) | R | G | 684 | rs7125959 | Benign |
60115 | Q9BXB1 (LGR4) | T | M | 709 | rs34717439 | Benign |
60116 | Q9BXB1 (LGR4) | D | G | 844 | rs34804482 | Benign |
60117 | Q9BXB5 (OSBPL10) | N | D | 254 | rs2290532 | Benign |
60118 | Q9BXB7 (SPATA16) | N | S | 50 | rs16846624 | Benign |
60119 | Q9BXB7 (SPATA16) | E | K | 78 | rs1515441 | Benign |
60120 | Q9BXB7 (SPATA16) | E | G | 90 | rs11558933 | Benign |
60121 | Q9BXB7 (SPATA16) | M | V | 133 | rs1515442 | Benign |
60122 | Q9BXB7 (SPATA16) | G | E | 147 | rs16846616 | Benign |
60123 | Q9BXB7 (SPATA16) | R | Q | 283 | rs137853118 | Disease: Spermatogeni c failure 6 (SPGF6) [MIM:102530] |
60124 | Q9BXB7 (SPATA16) | M | V | 286 | - | Benign |
60125 | Q9BXB7 (SPATA16) | V | M | 423 | rs373336427 | Benign |
60126 | Q9BXB7 (SPATA16) | A | V | 509 | rs115095786 | Benign |
60127 | Q9BXB7 (SPATA16) | M | T | 526 | rs62622782 | Benign |
60128 | Q9BXB7 (SPATA16) | Q | R | 564 | rs952207260 | Benign |
60129 | Q9BXC0 (HCAR1) | H | Q | 43 | rs35292336 | Benign |
60130 | Q9BXC0 (HCAR1) | D | E | 253 | - | Benign |
60131 | Q9BXC0 (HCAR1) | D | H | 253 | rs36124671 | Benign |
60132 | Q9BXC1 (GPR174) | S | P | 162 | rs3827440 | Benign |
60133 | Q9BXC9 (BBS2) | R | P | 23 | - | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60134 | Q9BXC9 (BBS2) | A | D | 33 | rs797045155 | Disease: Retinitis pigmentosa 74 (RP74) [MIM:616562] |
60135 | Q9BXC9 (BBS2) | N | S | 70 | rs4784677 | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60136 | Q9BXC9 (BBS2) | V | G | 75 | rs121908174 | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60137 | Q9BXC9 (BBS2) | G | C | 81 | rs750506474 | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60138 | Q9BXC9 (BBS2) | D | A | 104 | rs121908179 | Disease: Retinitis pigmentosa 74 (RP74) [MIM:616562] |
60139 | Q9BXC9 (BBS2) | A | V | 122 | rs17856449 | Benign |
60140 | Q9BXC9 (BBS2) | I | V | 123 | rs11373 | Benign |
60141 | Q9BXC9 (BBS2) | L | R | 125 | - | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60142 | Q9BXC9 (BBS2) | P | R | 134 | rs376306240 | Disease: Retinitis pigmentosa 74 (RP74) [MIM:616562] |
60143 | Q9BXC9 (BBS2) | A | P | 136 | - | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60144 | Q9BXC9 (BBS2) | G | V | 139 | rs121908181 | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60145 | Q9BXC9 (BBS2) | D | E | 174 | rs767373822 | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60146 | Q9BXC9 (BBS2) | C | W | 307 | - | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60147 | Q9BXC9 (BBS2) | R | Q | 315 | rs544773389 | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60148 | Q9BXC9 (BBS2) | R | W | 315 | rs121908178 | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60149 | Q9BXC9 (BBS2) | Y | C | 317 | - | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60150 | Q9BXC9 (BBS2) | L | W | 349 | rs752280639 | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60151 | Q9BXC9 (BBS2) | A | V | 504 | rs16957538 | Benign |
60152 | Q9BXC9 (BBS2) | T | I | 558 | rs370581600 | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60153 | Q9BXC9 (BBS2) | E | K | 629 | rs746505864 | Benign |
60154 | Q9BXC9 (BBS2) | R | P | 632 | rs138043021 | Disease: Retinitis pigmentosa 74 (RP74) [MIM:616562] |
60155 | Q9BXC9 (BBS2) | R | H | 643 | rs532361142 | Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] |
60156 | Q9BXF3 (CECR2) | R | H | 293 | rs5747211 | Benign |
60157 | Q9BXF3 (CECR2) | P | L | 674 | rs1296794 | Benign |
60158 | Q9BXF9 (TEKT3) | R | H | 3 | rs7226363 | Benign |
60159 | Q9BXF9 (TEKT3) | G | A | 282 | rs230898 | Benign |
60160 | Q9BXF9 (TEKT3) | V | A | 296 | rs6502446 | Benign |
60161 | Q9BXF9 (TEKT3) | E | D | 410 | rs35855709 | Benign |
60162 | Q9BXG8 (SPZ1) | V | L | 17 | rs1862136 | Benign |
60163 | Q9BXG8 (SPZ1) | E | K | 302 | rs6867419 | Benign |
60164 | Q9BXI2 (SLC25A2) | G | C | 159 | rs10075302 | Benign |
60165 | Q9BXI2 (SLC25A2) | V | G | 181 | rs3749779 | Benign |
60166 | Q9BXI2 (SLC25A2) | V | I | 226 | rs3749780 | Benign |
60167 | Q9BXI6 (TBC1D10A) | R | H | 411 | rs4823086 | Benign |
60168 | Q9BXI9 (C1QTNF6) | G | V | 21 | rs229527 | Benign |
60169 | Q9BXI9 (C1QTNF6) | P | R | 42 | rs229526 | Benign |
60170 | Q9BXI9 (C1QTNF6) | G | D | 55 | rs7290488 | Benign |
60171 | Q9BXI9 (C1QTNF6) | P | L | 138 | rs17812699 | Benign |
60172 | Q9BXI9 (C1QTNF6) | R | H | 226 | rs17812681 | Benign |
60173 | Q9BXJ0 (C1QTNF5) | Q | R | 44 | rs11538245 | Benign |
60174 | Q9BXJ0 (C1QTNF5) | S | R | 163 | rs111033578 | Disease: Late-onset retinal degeneration (LORD) [MIM:605670] |
60175 | Q9BXJ1 (C1QTNF1) | R | Q | 241 | rs35035542 | Benign |
60176 | Q9BXJ7 (AMN) | T | I | 41 | rs119478058 | Disease: Recessive hereditary megaloblasti c anemia 1 (RH-MGA1) [MIM:261100] |
60177 | Q9BXJ7 (AMN) | M | K | 69 | rs375774640 | Disease: Recessive hereditary megaloblasti c anemia 1 (RH-MGA1) [MIM:261100] |
60178 | Q9BXJ7 (AMN) | C | F | 234 | rs386834176 | Disease: Recessive hereditary megaloblasti c anemia 1 (RH-MGA1) [MIM:261100] |
60179 | Q9BXJ8 (TMEM120A) | Q | R | 86 | rs17852664 | Benign |
60180 | Q9BXJ8 (TMEM120A) | T | A | 201 | rs17855697 | Benign |
60181 | Q9BXK5 (BCL2L13) | I | R | 46 | rs2587070 | Benign |
60182 | Q9BXK5 (BCL2L13) | I | T | 46 | rs2587070 | Benign |
60183 | Q9BXK5 (BCL2L13) | I | V | 55 | rs16981016 | Benign |
60184 | Q9BXK5 (BCL2L13) | P | S | 360 | rs9306198 | Benign |
60185 | Q9BXL6 (CARD14) | R | C | 38 | rs281875217 | Benign |
60186 | Q9BXL6 (CARD14) | R | Q | 62 | rs115582620 | Benign |
60187 | Q9BXL6 (CARD14) | R | W | 69 | rs375624435 | Disease: Psoriasis 2 (PSORS2) [MIM:602723] |
60188 | Q9BXL6 (CARD14) | G | S | 117 | rs281875215 | Disease: Psoriasis 2 (PSORS2) [MIM:602723] |
60189 | Q9BXL6 (CARD14) | C | S | 127 | - | Disease: Pityriasis rubra pilaris (PRP) [MIM:173200] |
60190 | Q9BXL6 (CARD14) | Q | L | 136 | - | Disease: Pityriasis rubra pilaris (PRP) [MIM:173200] |
60191 | Q9BXL6 (CARD14) | E | A | 138 | rs281875214 | Disease: Psoriasis 2 (PSORS2) [MIM:602723] |
60192 | Q9BXL6 (CARD14) | E | G | 142 | rs281875213 | Disease: Psoriasis 2 (PSORS2) [MIM:602723] |
60193 | Q9BXL6 (CARD14) | E | K | 142 | rs281875212 | Disease: Psoriasis 2 (PSORS2) [MIM:602723] |
60194 | Q9BXL6 (CARD14) | L | R | 150 | rs146214639 | Disease: Psoriasis 2 (PSORS2) [MIM:602723] |
60195 | Q9BXL6 (CARD14) | L | P | 156 | rs387907240 | Disease: Pityriasis rubra pilaris (PRP) [MIM:173200] |
60196 | Q9BXL6 (CARD14) | H | N | 171 | rs281875216 | Benign |
60197 | Q9BXL6 (CARD14) | D | H | 176 | rs144475004 | Benign |
60198 | Q9BXL6 (CARD14) | R | H | 179 | rs199517469 | Benign |
60199 | Q9BXL6 (CARD14) | V | L | 191 | rs281875218 | Benign |
60200 | Q9BXL6 (CARD14) | E | K | 197 | rs200790561 | Disease: Psoriasis 2 (PSORS2) [MIM:602723] |
60201 | Q9BXL6 (CARD14) | S | N | 200 | rs114688446 | Benign |
60202 | Q9BXL6 (CARD14) | D | G | 285 | rs281875219 | Benign |
60203 | Q9BXL6 (CARD14) | L | P | 350 | rs1412261979 | Benign |
60204 | Q9BXL6 (CARD14) | L | P | 357 | - | Benign |
60205 | Q9BXL6 (CARD14) | R | S | 547 | rs2066964 | Benign |
60206 | Q9BXL6 (CARD14) | V | I | 585 | rs34367357 | Benign |
60207 | Q9BXL6 (CARD14) | I | N | 593 | rs281875220 | Benign |
60208 | Q9BXL6 (CARD14) | R | W | 682 | rs117918077 | Benign |
60209 | Q9BXL6 (CARD14) | G | S | 714 | rs151150961 | Benign |
60210 | Q9BXL6 (CARD14) | R | W | 820 | rs11652075 | Benign |
60211 | Q9BXL6 (CARD14) | R | H | 883 | rs2289541 | Benign |
60212 | Q9BXL6 (CARD14) | R | Q | 962 | rs34850974 | Benign |
60213 | Q9BXL6 (CARD14) | D | E | 973 | rs144285237 | Benign |
60214 | Q9BXL7 (CARD11) | E | D | 57 | - | Disease: Immunodefici ency 11B with atopic dermatitis (IMD11B) [MIM:617638] |
60215 | Q9BXL7 (CARD11) | G | S | 123 | rs387907352 | Disease: B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452] |
60216 | Q9BXL7 (CARD11) | E | G | 134 | rs387907351 | Disease: B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452] |
60217 | Q9BXL7 (CARD11) | L | P | 194 | - | Disease: Immunodefici ency 11B with atopic dermatitis (IMD11B) [MIM:617638] |
60218 | Q9BXL7 (CARD11) | T | M | 670 | rs3735134 | Benign |
60219 | Q9BXL7 (CARD11) | S | L | 694 | rs3735133 | Benign |
60220 | Q9BXL7 (CARD11) | R | W | 975 | rs1064795307 | Disease: Immunodefici ency 11B with atopic dermatitis (IMD11B) [MIM:617638] |
60221 | Q9BXM0 (PRX) | A | T | 406 | rs117336941 | Benign |
60222 | Q9BXM0 (PRX) | E | Q | 495 | rs146789340 | Benign |
60223 | Q9BXM0 (PRX) | V | A | 525 | rs149715830 | Benign |
60224 | Q9BXM0 (PRX) | D | N | 651 | rs3814290 | Disease: Charcot- Marie-Tooth disease 4F (CMT4F) [MIM:614895] |
60225 | Q9BXM0 (PRX) | V | A | 882 | rs268671 | Benign |
60226 | Q9BXM0 (PRX) | I | M | 921 | rs268673 | Benign |
60227 | Q9BXM0 (PRX) | K | E | 935 | - | Benign |
60228 | Q9BXM0 (PRX) | P | R | 1083 | rs3745202 | Benign |
60229 | Q9BXM0 (PRX) | G | R | 1132 | rs268674 | Benign |
60230 | Q9BXM0 (PRX) | E | K | 1259 | rs751742049 | Benign |
60231 | Q9BXM0 (PRX) | R | C | 1411 | rs533966999 | Benign |
60232 | Q9BXM7 (PINK1) | L | F | 67 | rs763142730 | Benign |
60233 | Q9BXM7 (PINK1) | R | P | 68 | rs1385309950 | Benign |
60234 | Q9BXM7 (PINK1) | C | F | 92 | - | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60235 | Q9BXM7 (PINK1) | R | W | 98 | rs575668171 | Benign |
60236 | Q9BXM7 (PINK1) | I | S | 111 | - | Benign |
60237 | Q9BXM7 (PINK1) | Q | L | 115 | rs148871409 | Benign |
60238 | Q9BXM7 (PINK1) | A | V | 124 | rs1274588239 | Benign |
60239 | Q9BXM7 (PINK1) | C | G | 125 | - | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60240 | Q9BXM7 (PINK1) | Q | P | 126 | rs775809722 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60241 | Q9BXM7 (PINK1) | T | M | 145 | rs45604240 | Benign |
60242 | Q9BXM7 (PINK1) | L | W | 148 | rs56297806 | Benign |
60243 | Q9BXM7 (PINK1) | A | P | 168 | rs768091663 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60244 | Q9BXM7 (PINK1) | V | G | 170 | - | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60245 | Q9BXM7 (PINK1) | K | N | 186 | rs143204084 | Benign |
60246 | Q9BXM7 (PINK1) | P | S | 196 | rs35802484 | Benign |
60247 | Q9BXM7 (PINK1) | P | L | 196 | rs138302371 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60248 | Q9BXM7 (PINK1) | P | L | 209 | rs34677717 | Benign |
60249 | Q9BXM7 (PINK1) | A | D | 217 | rs74315360 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60250 | Q9BXM7 (PINK1) | E | G | 231 | rs1303935100 | Benign |
60251 | Q9BXM7 (PINK1) | N | I | 235 | - | Benign |
60252 | Q9BXM7 (PINK1) | E | K | 240 | rs573931674 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60253 | Q9BXM7 (PINK1) | T | I | 257 | rs370906995 | Benign |
60254 | Q9BXM7 (PINK1) | R | G | 263 | - | Benign |
60255 | Q9BXM7 (PINK1) | L | V | 268 | rs372280083 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60256 | Q9BXM7 (PINK1) | H | Q | 271 | rs28940284 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60257 | Q9BXM7 (PINK1) | R | Q | 276 | rs548506734 | Benign |
60258 | Q9BXM7 (PINK1) | R | H | 279 | rs74315358 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60259 | Q9BXM7 (PINK1) | A | T | 280 | rs772510148 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60260 | Q9BXM7 (PINK1) | P | L | 296 | rs779060308 | Benign |
60261 | Q9BXM7 (PINK1) | P | L | 305 | rs7349186 | Benign |
60262 | Q9BXM7 (PINK1) | G | D | 309 | rs74315355 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60263 | Q9BXM7 (PINK1) | T | M | 313 | rs74315359 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60264 | Q9BXM7 (PINK1) | V | I | 317 | rs200949139 | Benign |
60265 | Q9BXM7 (PINK1) | M | L | 318 | rs139226733 | Benign |
60266 | Q9BXM7 (PINK1) | P | L | 322 | rs768019187 | Benign |
60267 | Q9BXM7 (PINK1) | A | T | 339 | rs55831733 | Benign |
60268 | Q9BXM7 (PINK1) | A | T | 340 | rs3738136 | Benign |
60269 | Q9BXM7 (PINK1) | M | I | 341 | rs35813094 | Benign |
60270 | Q9BXM7 (PINK1) | L | P | 347 | rs28940285 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60271 | Q9BXM7 (PINK1) | D | H | 362 | - | Benign |
60272 | Q9BXM7 (PINK1) | L | P | 369 | rs1195888869 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60273 | Q9BXM7 (PINK1) | C | F | 377 | rs34203620 | Benign |
60274 | Q9BXM7 (PINK1) | A | T | 383 | rs45515602 | Benign |
60275 | Q9BXM7 (PINK1) | G | A | 386 | - | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60276 | Q9BXM7 (PINK1) | C | R | 388 | - | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60277 | Q9BXM7 (PINK1) | G | V | 395 | rs1035071310 | Benign |
60278 | Q9BXM7 (PINK1) | P | L | 399 | rs119451946 | Disease: - |
60279 | Q9BXM7 (PINK1) | R | Q | 407 | rs556540177 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60280 | Q9BXM7 (PINK1) | G | V | 409 | - | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60281 | Q9BXM7 (PINK1) | G | S | 411 | rs45478900 | Benign |
60282 | Q9BXM7 (PINK1) | E | G | 417 | - | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60283 | Q9BXM7 (PINK1) | P | S | 425 | rs554114655 | Benign |
60284 | Q9BXM7 (PINK1) | Y | H | 431 | rs74315361 | Benign |
60285 | Q9BXM7 (PINK1) | I | T | 442 | - | Benign |
60286 | Q9BXM7 (PINK1) | N | S | 451 | rs747400197 | Benign |
60287 | Q9BXM7 (PINK1) | L | S | 461 | - | Benign |
60288 | Q9BXM7 (PINK1) | R | H | 464 | rs764328076 | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60289 | Q9BXM7 (PINK1) | E | K | 476 | rs115477764 | Benign |
60290 | Q9BXM7 (PINK1) | S | T | 477 | rs34416410 | Benign |
60291 | Q9BXM7 (PINK1) | L | P | 489 | - | Disease: Parkinson disease 6 (PARK6) [MIM:605909] |
60292 | Q9BXM7 (PINK1) | R | P | 501 | rs61744200 | Benign |
60293 | Q9BXM7 (PINK1) | N | T | 521 | rs1043424 | Benign |
60294 | Q9BXM7 (PINK1) | D | N | 525 | rs531477772 | Benign |
60295 | Q9BXM7 (PINK1) | A | T | 537 | rs771032673 | Benign |
60296 | Q9BXN2 (CLEC7A) | I | S | 223 | rs16910527 | Benign |
60297 | Q9BXN6 (SPANXD) | V | L | 68 | rs5953618 | Benign |
60298 | Q9BXP8 (PAPPA2) | T | S | 171 | rs36112782 | Benign |
60299 | Q9BXP8 (PAPPA2) | P | R | 1657 | rs34602579 | Benign |
60300 | Q9BXR5 (TLR10) | A | S | 163 | rs11466649 | Benign |
60301 | Q9BXR5 (TLR10) | L | P | 167 | rs11466650 | Benign |
60302 | Q9BXR5 (TLR10) | N | H | 241 | rs11096957 | Benign |
60303 | Q9BXR5 (TLR10) | V | I | 298 | rs11466651 | Benign |
60304 | Q9BXR5 (TLR10) | M | T | 326 | rs11466653 | Benign |
60305 | Q9BXR5 (TLR10) | I | L | 369 | rs11096955 | Benign |
60306 | Q9BXR5 (TLR10) | G | D | 381 | rs11466655 | Benign |
60307 | Q9BXR5 (TLR10) | R | G | 469 | rs11466656 | Benign |
60308 | Q9BXR5 (TLR10) | I | T | 473 | rs11466657 | Benign |
60309 | Q9BXR5 (TLR10) | R | W | 525 | rs11466658 | Benign |
60310 | Q9BXR5 (TLR10) | Y | C | 736 | rs11466660 | Benign |
60311 | Q9BXR5 (TLR10) | I | F | 775 | rs4129009 | Benign |
60312 | Q9BXR5 (TLR10) | I | L | 775 | rs4129009 | Benign |
60313 | Q9BXR5 (TLR10) | I | V | 775 | rs4129009 | Benign |
60314 | Q9BXR5 (TLR10) | R | L | 799 | rs4129008 | Benign |
60315 | Q9BXR5 (TLR10) | R | P | 799 | rs4129008 | Benign |
60316 | Q9BXR5 (TLR10) | R | Q | 799 | rs4129008 | Benign |
60317 | Q9BXR6 (CFHR5) | P | S | 46 | rs12097550 | Benign |
60318 | Q9BXR6 (CFHR5) | L | R | 105 | rs318240754 | Benign |
60319 | Q9BXR6 (CFHR5) | S | T | 195 | rs318240755 | Benign |
60320 | Q9BXR6 (CFHR5) | Y | N | 277 | rs318240756 | Benign |
60321 | Q9BXR6 (CFHR5) | R | H | 356 | rs35662416 | Benign |
60322 | Q9BXR6 (CFHR5) | V | L | 379 | rs111327589 | Benign |
60323 | Q9BXR6 (CFHR5) | W | C | 436 | rs201265664 | Benign |
60324 | Q9BXR6 (CFHR5) | L | I | 521 | rs35957013 | Benign |
60325 | Q9BXR6 (CFHR5) | L | R | 529 | rs16840956 | Benign |
60326 | Q9BXS0 (COL25A1) | G | R | 382 | rs780209390 | Disease: Fibrosis of extraocular muscles, congenital, 5 (CFEOM5) [MIM:616219] |
60327 | Q9BXS4 (TMEM59) | A | V | 46 | rs41294776 | Benign |
60328 | Q9BXS6 (NUSAP1) | T | A | 33 | rs7178634 | Benign |
60329 | Q9BXS6 (NUSAP1) | T | N | 33 | rs7178777 | Benign |
60330 | Q9BXS9 (SLC26A6) | V | M | 206 | rs13324142 | Benign |
60331 | Q9BXT2 (CACNG6) | C | S | 252 | rs12980121 | Benign |
60332 | Q9BXT4 (TDRD1) | V | L | 864 | rs7914059 | Benign |
60333 | Q9BXT4 (TDRD1) | Y | C | 1138 | rs34112549 | Benign |
60334 | Q9BXT5 (TEX15) | C | R | 104 | rs323347 | Benign |
60335 | Q9BXT5 (TEX15) | P | L | 383 | rs9297162 | Benign |
60336 | Q9BXT5 (TEX15) | I | V | 1035 | rs323346 | Benign |
60337 | Q9BXT5 (TEX15) | N | S | 1311 | rs323345 | Benign |
60338 | Q9BXT5 (TEX15) | L | V | 1337 | rs323344 | Benign |
60339 | Q9BXT5 (TEX15) | K | R | 1439 | rs323343 | Benign |
60340 | Q9BXT5 (TEX15) | D | N | 2138 | rs60474250 | Benign |
60341 | Q9BXT6 (MOV10L1) | T | S | 18 | rs12628964 | Benign |
60342 | Q9BXT6 (MOV10L1) | M | L | 57 | rs9617066 | Benign |
60343 | Q9BXT6 (MOV10L1) | R | C | 182 | rs3810971 | Benign |
60344 | Q9BXT6 (MOV10L1) | I | L | 454 | rs760749 | Benign |
60345 | Q9BXT6 (MOV10L1) | V | I | 650 | rs2340601 | Benign |
60346 | Q9BXT6 (MOV10L1) | S | G | 683 | rs3736689 | Benign |
60347 | Q9BXT6 (MOV10L1) | Q | R | 820 | rs2272837 | Benign |
60348 | Q9BXT6 (MOV10L1) | A | E | 1179 | rs2272843 | Benign |
60349 | Q9BXT8 (RNF17) | K | N | 346 | rs1451568 | Benign |
60350 | Q9BXT8 (RNF17) | G | S | 467 | rs9581180 | Benign |
60351 | Q9BXT8 (RNF17) | S | G | 501 | rs9507413 | Benign |
60352 | Q9BXT8 (RNF17) | A | P | 573 | rs10161760 | Benign |
60353 | Q9BXT8 (RNF17) | H | R | 667 | rs9511451 | Benign |
60354 | Q9BXT8 (RNF17) | N | K | 1110 | rs3783082 | Benign |
60355 | Q9BXT8 (RNF17) | E | K | 1380 | rs9507425 | Benign |
60356 | Q9BXU1 (STK31) | Q | H | 71 | rs6945306 | Benign |
60357 | Q9BXU1 (STK31) | S | F | 125 | rs56268851 | Benign |
60358 | Q9BXU1 (STK31) | E | K | 261 | rs10264952 | Benign |
60359 | Q9BXU1 (STK31) | K | N | 268 | rs10264967 | Benign |
60360 | Q9BXU1 (STK31) | I | K | 277 | rs55950645 | Benign |
60361 | Q9BXU1 (STK31) | T | P | 362 | rs35545265 | Benign |
60362 | Q9BXU1 (STK31) | R | C | 385 | rs35995607 | Benign |
60363 | Q9BXU1 (STK31) | A | T | 393 | rs56244148 | Benign |
60364 | Q9BXU1 (STK31) | G | E | 410 | rs4722266 | Benign |
60365 | Q9BXU1 (STK31) | A | P | 489 | rs34414354 | Benign |
60366 | Q9BXU1 (STK31) | A | T | 600 | rs55796076 | Benign |
60367 | Q9BXU1 (STK31) | N | K | 621 | rs10263079 | Benign |
60368 | Q9BXU1 (STK31) | S | I | 623 | rs10247878 | Benign |
60369 | Q9BXU1 (STK31) | H | R | 684 | rs41273999 | Benign |
60370 | Q9BXU1 (STK31) | E | K | 709 | rs56181834 | Benign |
60371 | Q9BXU1 (STK31) | T | M | 1000 | rs55794023 | Benign |
60372 | Q9BXU1 (STK31) | K | T | 1009 | rs33998018 | Benign |
60373 | Q9BXU1 (STK31) | T | S | 1010 | rs56391043 | Benign |
60374 | Q9BXU7 (USP26) | L | S | 165 | rs61741870 | Benign |
60375 | Q9BXU7 (USP26) | L | F | 364 | rs35397110 | Benign |
60376 | Q9BXU7 (USP26) | H | Y | 475 | rs41299088 | Benign |
60377 | Q9BXU7 (USP26) | L | F | 517 | rs1323347016 | Benign |
60378 | Q9BXU7 (USP26) | M | I | 579 | rs138385391 | Benign |
60379 | Q9BXU8 (FTHL17) | Q | H | 120 | rs16989319 | Benign |
60380 | Q9BXU8 (FTHL17) | Y | H | 138 | rs17340519 | Benign |
60381 | Q9BXW6 (OSBPL1A) | S | P | 810 | rs35693789 | Benign |
60382 | Q9BXW7 (HDHD5) | T | M | 179 | rs35665085 | Benign |
60383 | Q9BXW7 (HDHD5) | R | S | 369 | rs16982020 | Benign |
60384 | Q9BXW7 (HDHD5) | R | C | 416 | rs35327402 | Benign |
60385 | Q9BXW9 (FANCD2) | K | R | 33 | rs34691009 | Benign |
60386 | Q9BXW9 (FANCD2) | T | M | 61 | rs35110529 | Benign |
60387 | Q9BXW9 (FANCD2) | Q | H | 65 | rs36084488 | Benign |
60388 | Q9BXW9 (FANCD2) | S | G | 126 | rs764507146 | Disease: Fanconi anemia complementat ion group D2 (FANCD2) [MIM:227646] |
60389 | Q9BXW9 (FANCD2) | I | M | 172 | rs35173688 | Benign |
60390 | Q9BXW9 (FANCD2) | T | A | 193 | rs34936017 | Benign |
60391 | Q9BXW9 (FANCD2) | R | W | 302 | rs121917787 | Disease: Fanconi anemia complementat ion group D2 (FANCD2) [MIM:227646] |
60392 | Q9BXW9 (FANCD2) | R | Q | 328 | rs35625434 | Benign |
60393 | Q9BXW9 (FANCD2) | L | V | 446 | rs34557223 | Benign |
60394 | Q9BXW9 (FANCD2) | L | R | 456 | rs35782247 | Benign |
60395 | Q9BXW9 (FANCD2) | Q | P | 623 | rs36070315 | Benign |
60396 | Q9BXW9 (FANCD2) | P | L | 714 | rs3864017 | Benign |
60397 | Q9BXW9 (FANCD2) | K | R | 865 | rs35546777 | Benign |
60398 | Q9BXW9 (FANCD2) | G | V | 901 | rs35495399 | Benign |
60399 | Q9BXW9 (FANCD2) | R | H | 1236 | rs121917786 | Disease: Fanconi anemia complementat ion group D2 (FANCD2) [MIM:227646] |
60400 | Q9BXX0 (EMILIN2) | A | T | 215 | rs16943977 | Benign |
60401 | Q9BXX0 (EMILIN2) | M | V | 259 | rs35267664 | Benign |
60402 | Q9BXX0 (EMILIN2) | P | S | 903 | rs56288451 | Benign |
60403 | Q9BXX2 (ANKRD30B) | V | M | 375 | rs9748611 | Benign |
60404 | Q9BXX2 (ANKRD30B) | F | L | 477 | rs9675365 | Benign |
60405 | Q9BXX3 (ANKRD30A) | T | A | 611 | rs16937417 | Benign |
60406 | Q9BXX3 (ANKRD30A) | K | N | 917 | rs1209750 | Benign |
60407 | Q9BXX3 (ANKRD30A) | R | C | 985 | rs1200875 | Benign |
60408 | Q9BXY0 (MAK16) | Q | R | 277 | rs6468171 | Benign |
60409 | Q9BXY5 (CAPS2) | L | F | 125 | rs10879901 | Benign |
60410 | Q9BY07 (SLC4A5) | S | N | 251 | rs17009792 | Benign |
60411 | Q9BY07 (SLC4A5) | H | Y | 253 | rs55651232 | Benign |
60412 | Q9BY10 (SLC46A2) | A | V | 366 | rs16917454 | Benign |
60413 | Q9BY11 (PACSIN1) | A | V | 334 | rs41312309 | Benign |
60414 | Q9BY12 (SCAPER) | P | T | 1089 | rs1607017 | Benign |
60415 | Q9BY12 (SCAPER) | A | T | 1139 | rs3743176 | Benign |
60416 | Q9BY12 (SCAPER) | A | T | 1140 | rs3743176 | Benign |
60417 | Q9BY14 (TEX101) | G | V | 99 | rs35033974 | Benign |
60418 | Q9BY15 (ADGRE3) | E | Q | 127 | rs4606855 | Benign |
60419 | Q9BY15 (ADGRE3) | A | V | 236 | rs34226397 | Benign |
60420 | Q9BY15 (ADGRE3) | R | Q | 385 | rs45508602 | Benign |
60421 | Q9BY19 (MS4A8) | V | L | 95 | rs35956659 | Benign |
60422 | Q9BY21 (GPR87) | T | M | 205 | rs35521104 | Benign |
60423 | Q9BY27 (DGCR6L) | V | L | 115 | rs1056818 | Benign |
60424 | Q9BY27 (DGCR6L) | N | K | 195 | rs1056804 | Benign |
60425 | Q9BY32 (ITPA) | P | T | 32 | rs1127354 | Disease: Inosine triphosphate pyrophosphoh ydrolase deficiency (ITPAD) [MIM:613850] |
60426 | Q9BY41 (HDAC8) | H | R | 180 | rs397515416 | Disease: Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882] |
60427 | Q9BY41 (HDAC8) | T | M | 311 | rs397515417 | Disease: Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882] |
60428 | Q9BY41 (HDAC8) | G | R | 320 | rs398122909 | Disease: Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882] |
60429 | Q9BY41 (HDAC8) | H | R | 334 | rs397515418 | Disease: Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882] |
60430 | Q9BY42 (RTF2) | T | A | 159 | rs6024909 | Benign |
60431 | Q9BY42 (RTF2) | M | V | 171 | rs1059768 | Benign |
60432 | Q9BY43 (CHMP4A) | G | R | 153 | rs2295322 | Benign |
60433 | Q9BY44 (EIF2A) | T | S | 97 | rs1132979 | Benign |
60434 | Q9BY44 (EIF2A) | E | K | 582 | rs17850813 | Benign |
60435 | Q9BY49 (PECR) | E | K | 149 | rs1429148 | Benign |
60436 | Q9BY49 (PECR) | F | L | 297 | rs9288513 | Benign |
60437 | Q9BY64 (UGT2B28) | L | H | 365 | rs4235127 | Benign |
60438 | Q9BY64 (UGT2B28) | I | R | 447 | rs6843900 | Benign |
60439 | Q9BY64 (UGT2B28) | H | D | 458 | rs6828191 | Benign |
60440 | Q9BY66 (KDM5D) | V | L | 1186 | rs1050807 | Benign |
60441 | Q9BY67 (CADM1) | D | E | 285 | rs45525440 | Benign |
60442 | Q9BY76 (ANGPTL4) | P | L | 5 | rs761583091 | Benign |
60443 | Q9BY76 (ANGPTL4) | E | K | 40 | rs116843064 | Benign |
60444 | Q9BY76 (ANGPTL4) | M | I | 41 | rs186754194 | Benign |
60445 | Q9BY76 (ANGPTL4) | S | R | 67 | rs538554190 | Benign |
60446 | Q9BY76 (ANGPTL4) | R | L | 72 | rs141831018 | Benign |
60447 | Q9BY76 (ANGPTL4) | G | R | 77 | rs568624939 | Benign |
60448 | Q9BY76 (ANGPTL4) | E | K | 167 | rs140640857 | Benign |
60449 | Q9BY76 (ANGPTL4) | P | S | 174 | rs1008363865 | Benign |
60450 | Q9BY76 (ANGPTL4) | E | Q | 190 | rs77938377 | Benign |
60451 | Q9BY76 (ANGPTL4) | E | K | 196 | rs1192364228 | Benign |
60452 | Q9BY76 (ANGPTL4) | R | C | 230 | rs201026877 | Benign |
60453 | Q9BY76 (ANGPTL4) | G | R | 233 | - | Benign |
60454 | Q9BY76 (ANGPTL4) | F | V | 237 | rs768374046 | Benign |
60455 | Q9BY76 (ANGPTL4) | P | T | 251 | rs376328756 | Benign |
60456 | Q9BY76 (ANGPTL4) | T | M | 266 | rs1044250 | Benign |
60457 | Q9BY76 (ANGPTL4) | R | Q | 278 | rs35061979 | Benign |
60458 | Q9BY76 (ANGPTL4) | V | M | 291 | rs150000287 | Benign |
60459 | Q9BY76 (ANGPTL4) | L | M | 293 | rs775667046 | Benign |
60460 | Q9BY76 (ANGPTL4) | E | V | 296 | - | Benign |
60461 | Q9BY76 (ANGPTL4) | P | S | 307 | rs751249880 | Benign |
60462 | Q9BY76 (ANGPTL4) | V | M | 308 | rs139998264 | Benign |
60463 | Q9BY76 (ANGPTL4) | R | C | 336 | rs140744493 | Benign |
60464 | Q9BY76 (ANGPTL4) | D | E | 338 | rs780121474 | Benign |
60465 | Q9BY76 (ANGPTL4) | W | C | 349 | rs1033145581 | Benign |
60466 | Q9BY76 (ANGPTL4) | G | R | 361 | rs755737249 | Benign |
60467 | Q9BY76 (ANGPTL4) | G | S | 361 | rs755737249 | Benign |
60468 | Q9BY76 (ANGPTL4) | R | Q | 371 | rs779488814 | Benign |
60469 | Q9BY76 (ANGPTL4) | R | W | 384 | rs146942305 | Benign |
60470 | Q9BY79 (MFRP) | R | G | 54 | rs139436396 | Benign |
60471 | Q9BY79 (MFRP) | I | V | 119 | rs4639950 | Benign |
60472 | Q9BY79 (MFRP) | V | M | 136 | rs3814762 | Benign |
60473 | Q9BY79 (MFRP) | I | T | 182 | rs121908190 | Disease: Nanophthalmo s 2 (NNO2) [MIM:609549] |
60474 | Q9BY79 (MFRP) | G | S | 449 | rs139725672 | Benign |
60475 | Q9BY79 (MFRP) | Q | H | 514 | rs368172459 | Benign |
60476 | Q9BY84 (DUSP16) | T | M | 23 | rs36049447 | Benign |
60477 | Q9BY84 (DUSP16) | V | M | 366 | rs3809199 | Benign |
60478 | Q9BYB0 (SHANK3) | P | A | 141 | rs397514705 | Disease: Phelan- McDermid syndrome (PHMDS) [MIM:606232] |
60479 | Q9BYB0 (SHANK3) | A | G | 198 | rs1232069989 | Benign |
60480 | Q9BYB0 (SHANK3) | A | T | 224 | rs766856815 | Benign |
60481 | Q9BYB0 (SHANK3) | I | T | 245 | rs9616915 | Benign |
60482 | Q9BYB0 (SHANK3) | H | Q | 493 | - | Benign |
60483 | Q9BYB0 (SHANK3) | R | W | 536 | rs387906933 | Disease: Schizophreni a 15 (SCZD15) [MIM:613950] |
60484 | Q9BYB0 (SHANK3) | A | T | 720 | - | Benign |
60485 | Q9BYB0 (SHANK3) | S | T | 952 | rs1340094921 | Benign |
60486 | Q9BYB0 (SHANK3) | A | G | 963 | - | Benign |
60487 | Q9BYB0 (SHANK3) | G | V | 1010 | - | Benign |
60488 | Q9BYB0 (SHANK3) | G | V | 1011 | rs767058690 | Benign |
60489 | Q9BYB0 (SHANK3) | P | H | 1134 | rs769454362 | Benign |
60490 | Q9BYB0 (SHANK3) | R | H | 1231 | rs750186589 | Benign |
60491 | Q9BYB0 (SHANK3) | R | K | 1298 | rs201483867 | Benign |
60492 | Q9BYB0 (SHANK3) | V | G | 1333 | rs200087210 | Benign |
60493 | Q9BYB0 (SHANK3) | A | S | 1452 | - | Disease: Phelan- McDermid syndrome (PHMDS) [MIM:606232] |
60494 | Q9BYB0 (SHANK3) | I | V | 1546 | rs1389307970 | Benign |
60495 | Q9BYB0 (SHANK3) | S | G | 1566 | rs1481014682 | Benign |
60496 | Q9BYB0 (SHANK3) | P | T | 1645 | - | Benign |
60497 | Q9BYB4 (GNB1L) | E | K | 30 | rs35178436 | Benign |
60498 | Q9BYB4 (GNB1L) | R | H | 37 | rs5748449 | Benign |
60499 | Q9BYB4 (GNB1L) | W | G | 239 | rs2073770 | Benign |
60500 | Q9BYC2 (OXCT2) | E | D | 250 | rs7542609 | Benign |
60501 | Q9BYC2 (OXCT2) | L | R | 285 | rs230321 | Benign |
60502 | Q9BYC5 (FUT8) | K | Q | 101 | rs2229678 | Benign |
60503 | Q9BYC5 (FUT8) | T | K | 267 | rs35949016 | Benign |
60504 | Q9BYC5 (FUT8) | R | G | 337 | - | Disease: Congenital disorder of glycosylatio n with defective fucosylation 1 (CDGF1) [MIM:618005] |
60505 | Q9BYD2 (MRPL9) | E | G | 67 | rs7007 | Benign |
60506 | Q9BYD2 (MRPL9) | E | A | 210 | rs8480 | Benign |
60507 | Q9BYD6 (MRPL1) | T | K | 47 | rs17851275 | Benign |
60508 | Q9BYD6 (MRPL1) | F | S | 177 | rs17855456 | Benign |
60509 | Q9BYD9 (ACTRT3) | E | K | 234 | rs2068178 | Benign |
60510 | Q9BYE0 (HES7) | R | W | 25 | rs113994160 | Disease: Spondylocost al dysostosis 4, autosomal recessive (SCDO4) [MIM:613686] |
60511 | Q9BYE0 (HES7) | I | V | 58 | rs387906979 | Disease: Spondylocost al dysostosis 4, autosomal recessive (SCDO4) [MIM:613686] |
60512 | Q9BYE0 (HES7) | D | Y | 186 | rs387906978 | Disease: Spondylocost al dysostosis 4, autosomal recessive (SCDO4) [MIM:613686] |
60513 | Q9BYE3 (LCE3D) | G | V | 43 | rs512208 | Benign |
60514 | Q9BYE3 (LCE3D) | G | V | 81 | rs57201979 | Benign |
60515 | Q9BYE9 (CDHR2) | Q | H | 107 | rs6886860 | Benign |
60516 | Q9BYE9 (CDHR2) | A | G | 415 | rs3762960 | Benign |
60517 | Q9BYE9 (CDHR2) | V | A | 424 | rs11134982 | Benign |
60518 | Q9BYE9 (CDHR2) | L | P | 766 | rs752138 | Benign |
60519 | Q9BYE9 (CDHR2) | T | M | 901 | rs35018750 | Benign |
60520 | Q9BYE9 (CDHR2) | V | M | 948 | rs3749625 | Benign |
60521 | Q9BYE9 (CDHR2) | P | L | 1004 | rs371676123 | Benign |
60522 | Q9BYE9 (CDHR2) | T | M | 1128 | rs2291442 | Benign |
60523 | Q9BYE9 (CDHR2) | L | M | 1164 | rs17078347 | Benign |
60524 | Q9BYF1 (ACE2) | K | R | 26 | rs4646116 | Benign |
60525 | Q9BYF1 (ACE2) | N | S | 638 | rs183135788 | Benign |
60526 | Q9BYG3 (NIFK) | P | Q | 144 | rs17852212 | Benign |
60527 | Q9BYG7 (MRO) | R | S | 39 | rs4940019 | Benign |
60528 | Q9BYG7 (MRO) | T | A | 134 | rs2849233 | Benign |
60529 | Q9BYG8 (GSDMC) | P | S | 23 | rs10090835 | Benign |
60530 | Q9BYG8 (GSDMC) | R | K | 150 | rs16904151 | Benign |
60531 | Q9BYG8 (GSDMC) | M | T | 475 | rs4144738 | Benign |
60532 | Q9BYH1 (SEZ6L) | P | L | 52 | rs6004989 | Benign |
60533 | Q9BYH1 (SEZ6L) | W | L | 185 | rs137203 | Benign |
60534 | Q9BYH1 (SEZ6L) | M | I | 430 | rs663048 | Benign |
60535 | Q9BYH1 (SEZ6L) | Q | H | 671 | rs586542 | Benign |
60536 | Q9BYH8 (NFKBIZ) | T | S | 307 | rs3821727 | Benign |
60537 | Q9BYI3 (FAM126A) | L | P | 53 | rs72549407 | Disease: Leukodystrop hy, hypomyelinat ing, 5 (HLD5) [MIM:610532] |
60538 | Q9BYI3 (FAM126A) | C | R | 57 | - | Disease: Leukodystrop hy, hypomyelinat ing, 5 (HLD5) [MIM:610532] |
60539 | Q9BYI3 (FAM126A) | R | Q | 217 | rs192409840 | Benign |
60540 | Q9BYJ0 (FGFBP2) | S | N | 28 | rs35496730 | Benign |
60541 | Q9BYJ0 (FGFBP2) | F | L | 84 | rs2286459 | Benign |
60542 | Q9BYJ0 (FGFBP2) | P | S | 90 | rs758329 | Benign |
60543 | Q9BYJ1 (ALOXE3) | L | M | 237 | rs121434235 | Disease: Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] |
60544 | Q9BYJ1 (ALOXE3) | G | V | 281 | rs786205120 | Disease: Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] |
60545 | Q9BYJ1 (ALOXE3) | R | S | 396 | rs121434234 | Disease: Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] |
60546 | Q9BYJ1 (ALOXE3) | L | P | 427 | rs1355284797 | Disease: Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] |
60547 | Q9BYJ1 (ALOXE3) | V | F | 500 | rs121434232 | Disease: Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] |
60548 | Q9BYJ1 (ALOXE3) | P | L | 630 | rs147149459 | Disease: Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] |
60549 | Q9BYJ4 (TRIM34) | T | S | 276 | rs6578670 | Benign |
60550 | Q9BYJ4 (TRIM34) | D | H | 282 | rs3740997 | Benign |
60551 | Q9BYJ4 (TRIM34) | N | K | 404 | rs16933844 | Benign |
60552 | Q9BYK8 (HELZ2) | S | N | 788 | rs438363 | Benign |
60553 | Q9BYK8 (HELZ2) | H | R | 1123 | rs310632 | Benign |
60554 | Q9BYK8 (HELZ2) | S | L | 1152 | rs35817585 | Benign |
60555 | Q9BYK8 (HELZ2) | V | L | 1308 | rs310631 | Benign |
60556 | Q9BYK8 (HELZ2) | R | K | 1381 | rs3810487 | Benign |
60557 | Q9BYK8 (HELZ2) | L | R | 1821 | rs3810486 | Benign |
60558 | Q9BYK8 (HELZ2) | T | A | 1889 | rs34980032 | Benign |
60559 | Q9BYK8 (HELZ2) | P | L | 2016 | rs3810485 | Benign |
60560 | Q9BYK8 (HELZ2) | Q | E | 2049 | rs3810483 | Benign |
60561 | Q9BYK8 (HELZ2) | T | M | 2170 | rs3810481 | Benign |
60562 | Q9BYM8 (RBCK1) | A | P | 18 | - | Disease: Polyglucosan body myopathy 1 with or without immunodefici ency (PGBM1) [MIM:615895] |
60563 | Q9BYM8 (RBCK1) | N | S | 387 | rs566912235 | Disease: Polyglucosan body myopathy 1 with or without immunodefici ency (PGBM1) [MIM:615895] |
60564 | Q9BYP7 (WNK3) | Q | H | 704 | rs56077971 | Benign |
60565 | Q9BYP7 (WNK3) | A | T | 998 | rs56404148 | Benign |
60566 | Q9BYP7 (WNK3) | K | E | 1169 | rs55903619 | Benign |
60567 | Q9BYP7 (WNK3) | T | I | 1375 | rs55879434 | Benign |
60568 | Q9BYP9 (KRTAP9-9) | P | S | 36 | rs9903833 | Benign |
60569 | Q9BYP9 (KRTAP9-9) | C | S | 56 | rs9902235 | Benign |
60570 | Q9BYQ2 (KRTAP9-4) | S | Y | 146 | rs2191379 | Benign |
60571 | Q9BYQ4 (KRTAP9-2) | P | S | 36 | rs9903833 | Benign |
60572 | Q9BYQ4 (KRTAP9-2) | C | S | 56 | rs9902235 | Benign |
60573 | Q9BYQ7 (KRTAP4-1) | H | R | 66 | rs2320231 | Benign |
60574 | Q9BYQ7 (KRTAP4-1) | S | R | 115 | rs35382039 | Benign |
60575 | Q9BYQ7 (KRTAP4-1) | A | T | 134 | rs398825 | Benign |
60576 | Q9BYR0 (KRTAP4-7) | S | G | 16 | rs11655310 | Benign |
60577 | Q9BYR0 (KRTAP4-7) | D | V | 18 | rs383835 | Benign |
60578 | Q9BYR0 (KRTAP4-7) | T | S | 68 | rs11650484 | Benign |
60579 | Q9BYR0 (KRTAP4-7) | S | C | 168 | - | Benign |
60580 | Q9BYR2 (KRTAP4-5) | C | R | 6 | rs238829 | Benign |
60581 | Q9BYR2 (KRTAP4-5) | R | C | 22 | rs1497383 | Benign |
60582 | Q9BYR2 (KRTAP4-5) | R | H | 67 | rs238830 | Benign |
60583 | Q9BYR2 (KRTAP4-5) | C | Y | 125 | rs1846044 | Benign |
60584 | Q9BYR3 (KRTAP4-4) | Y | C | 25 | rs385055 | Benign |
60585 | Q9BYR3 (KRTAP4-4) | C | S | 35 | rs444509 | Benign |
60586 | Q9BYR3 (KRTAP4-4) | R | S | 154 | rs366700 | Benign |
60587 | Q9BYR4 (KRTAP4-3) | P | S | 122 | rs428371 | Benign |
60588 | Q9BYR4 (KRTAP4-3) | P | S | 152 | rs428371 | Benign |
60589 | Q9BYR5 (KRTAP4-2) | Y | C | 95 | rs389784 | Benign |
60590 | Q9BYR7 (KRTAP3-2) | S | G | 8 | rs9897046 | Benign |
60591 | Q9BYR7 (KRTAP3-2) | R | C | 27 | rs3829598 | Benign |
60592 | Q9BYR7 (KRTAP3-2) | I | T | 46 | rs3813050 | Benign |
60593 | Q9BYS8 (LRRC2) | V | A | 32 | rs28687398 | Benign |
60594 | Q9BYS8 (LRRC2) | T | A | 83 | rs17286758 | Benign |
60595 | Q9BYS8 (LRRC2) | A | E | 145 | rs17078944 | Benign |
60596 | Q9BYT1 (SLC17A9) | R | C | 9 | rs548728088 | Disease: Porokeratosi s 8, disseminated superficial actinic type (POROK8) [MIM:616063] |
60597 | Q9BYT1 (SLC17A9) | N | S | 228 | rs2427463 | Benign |
60598 | Q9BYT1 (SLC17A9) | R | Q | 311 | rs606231251 | Disease: Porokeratosi s 8, disseminated superficial actinic type (POROK8) [MIM:616063] |
60599 | Q9BYT1 (SLC17A9) | T | M | 397 | rs7271712 | Benign |
60600 | Q9BYT3 (STK33) | K | E | 60 | rs60786172 | Benign |
60601 | Q9BYT3 (STK33) | E | D | 98 | rs34525052 | Benign |
60602 | Q9BYT3 (STK33) | D | E | 436 | rs3751096 | Benign |
60603 | Q9BYT3 (STK33) | A | T | 437 | rs3751095 | Benign |
60604 | Q9BYT3 (STK33) | A | E | 458 | rs35296353 | Benign |
60605 | Q9BYT8 (NLN) | G | S | 79 | rs34339013 | Benign |
60606 | Q9BYT8 (NLN) | S | G | 323 | rs34063558 | Benign |
60607 | Q9BYT8 (NLN) | K | R | 372 | rs6863012 | Benign |
60608 | Q9BYT8 (NLN) | S | G | 417 | rs2289884 | Benign |
60609 | Q9BYT8 (NLN) | P | S | 704 | rs6860508 | Benign |
60610 | Q9BYT9 (ANO3) | W | C | 490 | - | Disease: Dystonia 24 (DYT24) [MIM:615034] |
60611 | Q9BYT9 (ANO3) | R | W | 494 | rs587776922 | Disease: Dystonia 24 (DYT24) [MIM:615034] |
60612 | Q9BYT9 (ANO3) | S | G | 685 | rs587776923 | Disease: Dystonia 24 (DYT24) [MIM:615034] |
60613 | Q9BYT9 (ANO3) | L | V | 781 | rs11825056 | Benign |
60614 | Q9BYT9 (ANO3) | K | N | 862 | rs1277790116 | Disease: Dystonia 24 (DYT24) [MIM:615034] |
60615 | Q9BYU1 (PBX4) | V | I | 169 | rs8108180 | Benign |
60616 | Q9BYU1 (PBX4) | M | V | 177 | rs8108981 | Benign |
60617 | Q9BYV1 (AGXT2) | S | I | 102 | rs37370 | Benign |
60618 | Q9BYV1 (AGXT2) | S | N | 102 | rs37370 | Benign |
60619 | Q9BYV1 (AGXT2) | S | T | 102 | rs37370 | Benign |
60620 | Q9BYV1 (AGXT2) | G | R | 132 | rs16870794 | Benign |
60621 | Q9BYV1 (AGXT2) | V | I | 140 | rs37369 | Benign |
60622 | Q9BYV1 (AGXT2) | T | I | 212 | rs180749 | Benign |
60623 | Q9BYV1 (AGXT2) | P | R | 492 | rs17245714 | Benign |
60624 | Q9BYV1 (AGXT2) | V | L | 498 | rs16899974 | Benign |
60625 | Q9BYV6 (TRIM55) | I | V | 54 | rs1320007526 | Benign |
60626 | Q9BYV6 (TRIM55) | S | F | 252 | - | Benign |
60627 | Q9BYV6 (TRIM55) | N | K | 257 | rs61741078 | Benign |
60628 | Q9BYV6 (TRIM55) | V | I | 258 | rs1279027783 | Benign |
60629 | Q9BYV6 (TRIM55) | E | Q | 336 | rs770907206 | Benign |
60630 | Q9BYV6 (TRIM55) | K | R | 343 | rs7843605 | Benign |
60631 | Q9BYV6 (TRIM55) | T | I | 418 | - | Benign |
60632 | Q9BYV6 (TRIM55) | P | L | 458 | - | Benign |
60633 | Q9BYV6 (TRIM55) | A | T | 488 | rs770146015 | Benign |
60634 | Q9BYV7 (BCO2) | L | P | 231 | rs10891338 | Benign |
60635 | Q9BYV7 (BCO2) | G | E | 289 | rs17113607 | Benign |
60636 | Q9BYV7 (BCO2) | I | L | 548 | rs2217401 | Benign |
60637 | Q9BYV8 (CEP41) | M | T | 36 | rs368178632 | Disease: - |
60638 | Q9BYV8 (CEP41) | R | H | 179 | rs140259402 | Disease: - |
60639 | Q9BYV8 (CEP41) | R | C | 360 | rs371812716 | Disease: - |
60640 | Q9BYV9 (BACH2) | L | P | 24 | - | Disease: Immunodefici ency 60 (IMD60) [MIM:618394] |
60641 | Q9BYV9 (BACH2) | A | T | 418 | rs34335140 | Benign |
60642 | Q9BYW1 (SLC2A11) | D | N | 60 | rs7292659 | Benign |
60643 | Q9BYW1 (SLC2A11) | R | Q | 232 | rs9608213 | Benign |
60644 | Q9BYW1 (SLC2A11) | R | Q | 301 | rs36015336 | Benign |
60645 | Q9BYW1 (SLC2A11) | I | F | 420 | rs34096096 | Benign |
60646 | Q9BYW1 (SLC2A11) | K | E | 469 | rs60882514 | Benign |
60647 | Q9BYW2 (SETD2) | V | L | 768 | rs9311404 | Benign |
60648 | Q9BYW2 (SETD2) | E | Q | 902 | rs58906143 | Benign |
60649 | Q9BYW2 (SETD2) | N | D | 1733 | - | Disease: Renal cell carcinoma (RCC) [MIM:144700] |
60650 | Q9BYW2 (SETD2) | S | P | 1769 | - | Disease: Renal cell carcinoma (RCC) [MIM:144700] |
60651 | Q9BYW2 (SETD2) | A | D | 1868 | rs11721074 | Benign |
60652 | Q9BYW2 (SETD2) | P | L | 1962 | rs4082155 | Benign |
60653 | Q9BYX2 (TBC1D2) | P | T | 241 | rs879368 | Benign |
60654 | Q9BYX2 (TBC1D2) | L | S | 253 | rs879369 | Benign |
60655 | Q9BYX2 (TBC1D2) | G | V | 261 | rs1573025 | Benign |
60656 | Q9BYX4 (IFIH1) | R | G | 337 | rs587777447 | Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846] |
60657 | Q9BYX4 (IFIH1) | L | F | 372 | rs587777576 | Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846] |
60658 | Q9BYX4 (IFIH1) | D | V | 393 | rs587777449 | Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846] |
60659 | Q9BYX4 (IFIH1) | A | T | 452 | rs587777575 | Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846] |
60660 | Q9BYX4 (IFIH1) | H | R | 460 | rs10930046 | Benign |
60661 | Q9BYX4 (IFIH1) | G | R | 495 | rs672601336 | Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846] |
60662 | Q9BYX4 (IFIH1) | R | Q | 720 | rs587777445 | Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846] |
60663 | Q9BYX4 (IFIH1) | R | C | 779 | rs587777448 | Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846] |
60664 | Q9BYX4 (IFIH1) | R | H | 779 | rs587777446 | Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846] |
60665 | Q9BYX4 (IFIH1) | R | Q | 822 | rs376048533 | Disease: Singleton- Merten syndrome 1 (SGMRT1) [MIM:182250] |
60666 | Q9BYX4 (IFIH1) | H | R | 843 | rs3747517 | Benign |
60667 | Q9BYX4 (IFIH1) | A | T | 946 | rs1990760 | Benign |
60668 | Q9BYZ2 (LDHAL6B) | V | M | 14 | rs3809530 | Benign |
60669 | Q9BYZ2 (LDHAL6B) | P | L | 30 | rs3809529 | Benign |
60670 | Q9BYZ2 (LDHAL6B) | P | S | 259 | rs35212259 | Benign |
60671 | Q9BYZ2 (LDHAL6B) | I | T | 326 | rs3825937 | Benign |
60672 | Q9BYZ6 (RHOBTB2) | A | G | 452 | rs1554504656 | Disease: Epileptic encephalopat hy, early infantile, 64 (EIEE64) [MIM:618004] |
60673 | Q9BYZ6 (RHOBTB2) | R | H | 461 | rs1554504663 | Disease: Epileptic encephalopat hy, early infantile, 64 (EIEE64) [MIM:618004] |
60674 | Q9BYZ6 (RHOBTB2) | R | C | 485 | - | Disease: Epileptic encephalopat hy, early infantile, 64 (EIEE64) [MIM:618004] |
60675 | Q9BYZ6 (RHOBTB2) | N | D | 488 | rs1554504678 | Disease: Epileptic encephalopat hy, early infantile, 64 (EIEE64) [MIM:618004] |
60676 | Q9BYZ6 (RHOBTB2) | R | Q | 489 | rs1554504684 | Disease: Epileptic encephalopat hy, early infantile, 64 (EIEE64) [MIM:618004] |
60677 | Q9BYZ6 (RHOBTB2) | R | W | 489 | rs1554504681 | Disease: Epileptic encephalopat hy, early infantile, 64 (EIEE64) [MIM:618004] |
60678 | Q9BYZ8 (REG4) | N | H | 135 | rs34996202 | Benign |
60679 | Q9BZ11 (ADAM33) | N | S | 109 | rs41467948 | Benign |
60680 | Q9BZ11 (ADAM33) | T | A | 178 | rs3918392 | Benign |
60681 | Q9BZ11 (ADAM33) | T | M | 272 | rs41534847 | Benign |
60682 | Q9BZ11 (ADAM33) | V | I | 316 | rs41459049 | Benign |
60683 | Q9BZ11 (ADAM33) | P | S | 336 | rs41483049 | Benign |
60684 | Q9BZ11 (ADAM33) | A | S | 365 | rs41419248 | Benign |
60685 | Q9BZ11 (ADAM33) | D | E | 441 | rs41382144 | Benign |
60686 | Q9BZ11 (ADAM33) | W | R | 515 | rs615436 | Benign |
60687 | Q9BZ11 (ADAM33) | L | H | 612 | rs41453444 | Benign |
60688 | Q9BZ11 (ADAM33) | V | I | 710 | rs3918396 | Benign |
60689 | Q9BZ11 (ADAM33) | C | G | 739 | rs41434648 | Benign |
60690 | Q9BZ11 (ADAM33) | D | Y | 742 | rs41462450 | Benign |
60691 | Q9BZ11 (ADAM33) | M | T | 764 | rs2280091 | Benign |
60692 | Q9BZ11 (ADAM33) | P | S | 774 | rs2280090 | Benign |
60693 | Q9BZ19 (ANKRD60) | R | C | 295 | rs584855 | Benign |
60694 | Q9BZ23 (PANK2) | R | P | 94 | rs71647827 | Benign |
60695 | Q9BZ23 (PANK2) | L | Q | 111 | rs71647828 | Benign |
60696 | Q9BZ23 (PANK2) | G | A | 126 | rs3737084 | Benign |
60697 | Q9BZ23 (PANK2) | E | G | 134 | rs765679726 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60698 | Q9BZ23 (PANK2) | G | V | 219 | - | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60699 | Q9BZ23 (PANK2) | T | A | 234 | rs137852965 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60700 | Q9BZ23 (PANK2) | R | P | 249 | - | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60701 | Q9BZ23 (PANK2) | R | W | 264 | rs137852961 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60702 | Q9BZ23 (PANK2) | R | C | 278 | rs137852966 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60703 | Q9BZ23 (PANK2) | R | L | 278 | rs1348762206 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60704 | Q9BZ23 (PANK2) | L | V | 282 | - | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60705 | Q9BZ23 (PANK2) | R | C | 286 | rs137852962 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60706 | Q9BZ23 (PANK2) | E | D | 322 | rs974575417 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60707 | Q9BZ23 (PANK2) | E | G | 322 | rs768230831 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60708 | Q9BZ23 (PANK2) | T | I | 327 | - | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60709 | Q9BZ23 (PANK2) | S | P | 351 | rs137852964 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60710 | Q9BZ23 (PANK2) | N | S | 355 | rs746484727 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60711 | Q9BZ23 (PANK2) | R | Q | 357 | rs754521581 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60712 | Q9BZ23 (PANK2) | A | T | 398 | rs759223327 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60713 | Q9BZ23 (PANK2) | N | I | 404 | rs752078407 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60714 | Q9BZ23 (PANK2) | L | P | 413 | rs750176786 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60715 | Q9BZ23 (PANK2) | C | Y | 428 | rs1012947103 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60716 | Q9BZ23 (PANK2) | D | N | 447 | - | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60717 | Q9BZ23 (PANK2) | S | N | 471 | rs137852963 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60718 | Q9BZ23 (PANK2) | I | T | 497 | - | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60719 | Q9BZ23 (PANK2) | N | I | 500 | rs759332123 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60720 | Q9BZ23 (PANK2) | I | T | 501 | rs775459398 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60721 | Q9BZ23 (PANK2) | A | V | 509 | - | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60722 | Q9BZ23 (PANK2) | N | D | 511 | rs767653843 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60723 | Q9BZ23 (PANK2) | G | R | 521 | rs137852959 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60724 | Q9BZ23 (PANK2) | R | W | 532 | - | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60725 | Q9BZ23 (PANK2) | L | P | 563 | rs1324077575 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60726 | Q9BZ23 (PANK2) | P | L | 570 | rs41279408 | Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200] |
60727 | Q9BZ29 (DOCK9) | A | T | 455 | rs56010605 | Benign |
60728 | Q9BZ29 (DOCK9) | K | E | 1416 | rs16955934 | Benign |
60729 | Q9BZ71 (PITPNM3) | P | S | 17 | rs28493751 | Benign |
60730 | Q9BZ71 (PITPNM3) | A | T | 80 | rs3809835 | Benign |
60731 | Q9BZ71 (PITPNM3) | Q | H | 626 | rs76024428 | Disease: Cone-rod dystrophy 5 (CORD5) [MIM:600977] |
60732 | Q9BZ72 (PITPNM2) | P | L | 9 | rs17884869 | Benign |
60733 | Q9BZ72 (PITPNM2) | L | M | 661 | rs55813219 | Benign |
60734 | Q9BZ76 (CNTNAP3) | A | S | 628 | rs1758272 | Benign |
60735 | Q9BZ76 (CNTNAP3) | R | H | 845 | rs7852039 | Benign |
60736 | Q9BZ95 (NSD3) | T | M | 186 | rs13034 | Benign |
60737 | Q9BZ95 (NSD3) | R | P | 383 | rs2234552 | Benign |
60738 | Q9BZA7 (PCDH11X) | R | Q | 1018 | rs4252205 | Benign |
60739 | Q9BZA8 (PCDH11Y) | V | F | 917 | rs2524543 | Benign |
60740 | Q9BZA8 (PCDH11Y) | N | K | 1012 | rs2563389 | Benign |
60741 | Q9BZA8 (PCDH11Y) | A | T | 1320 | rs2556900 | Benign |
60742 | Q9BZB8 (CPEB1) | M | I | 233 | - | Benign |
60743 | Q9BZC1 (CELF4) | G | S | 388 | rs12458669 | Benign |
60744 | Q9BZC7 (ABCA2) | P | H | 583 | rs908828 | Benign |
60745 | Q9BZC7 (ABCA2) | F | V | 674 | rs2090625 | Benign |
60746 | Q9BZD2 (SLC29A3) | R | G | 18 | rs2277257 | Benign |
60747 | Q9BZD2 (SLC29A3) | M | R | 116 | rs267607057 | Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782] |
60748 | Q9BZD2 (SLC29A3) | R | C | 134 | rs1430557607 | Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782] |
60749 | Q9BZD2 (SLC29A3) | S | F | 158 | rs780668 | Benign |
60750 | Q9BZD2 (SLC29A3) | G | V | 163 | rs143557881 | Benign |
60751 | Q9BZD2 (SLC29A3) | S | R | 184 | rs1023257012 | Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782] |
60752 | Q9BZD2 (SLC29A3) | V | I | 239 | rs2252996 | Benign |
60753 | Q9BZD2 (SLC29A3) | L | P | 281 | rs79737301 | Benign |
60754 | Q9BZD2 (SLC29A3) | I | V | 326 | rs2487068 | Benign |
60755 | Q9BZD2 (SLC29A3) | R | Q | 363 | rs387907066 | Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782] |
60756 | Q9BZD2 (SLC29A3) | R | W | 363 | rs387907067 | Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782] |
60757 | Q9BZD2 (SLC29A3) | V | M | 407 | rs144517514 | Benign |
60758 | Q9BZD2 (SLC29A3) | G | S | 427 | rs121912583 | Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782] |
60759 | Q9BZD2 (SLC29A3) | G | R | 437 | rs121912584 | Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782] |
60760 | Q9BZD2 (SLC29A3) | T | R | 449 | rs267607058 | Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782] |
60761 | Q9BZD2 (SLC29A3) | V | E | 452 | rs999940 | Benign |
60762 | Q9BZD4 (NUF2) | S | L | 229 | rs11802875 | Benign |
60763 | Q9BZD4 (NUF2) | S | R | 239 | rs16852767 | Benign |
60764 | Q9BZD6 (PRRG4) | E | K | 33 | rs33962176 | Benign |
60765 | Q9BZD6 (PRRG4) | C | R | 143 | rs34736080 | Benign |
60766 | Q9BZD6 (PRRG4) | P | Q | 176 | rs34139105 | Benign |
60767 | Q9BZD7 (PRRG3) | N | S | 153 | rs4323608 | Benign |
60768 | Q9BZE0 (GLIS2) | T | A | 492 | rs8057701 | Benign |
60769 | Q9BZE1 (MRPL37) | L | V | 322 | rs2275408 | Benign |
60770 | Q9BZE1 (MRPL37) | C | S | 366 | rs13571 | Benign |
60771 | Q9BZE2 (PUS3) | Y | D | 3 | rs622756 | Benign |
60772 | Q9BZE2 (PUS3) | A | S | 46 | rs549990 | Benign |
60773 | Q9BZE2 (PUS3) | E | D | 460 | rs3088241 | Benign |
60774 | Q9BZE4 (GTPBP4) | R | H | 525 | rs3207775 | Benign |
60775 | Q9BZE7 (C22orf23) | M | L | 136 | rs35562630 | Benign |
60776 | Q9BZE9 (ASPSCR1) | L | Q | 252 | rs8074498 | Benign |
60777 | Q9BZE9 (ASPSCR1) | V | M | 318 | rs34085048 | Benign |
60778 | Q9BZE9 (ASPSCR1) | D | E | 487 | rs13087 | Benign |
60779 | Q9BZF2 (OSBPL7) | M | I | 148 | rs8076196 | Benign |
60780 | Q9BZF2 (OSBPL7) | T | I | 156 | rs35437144 | Benign |
60781 | Q9BZF2 (OSBPL7) | A | E | 169 | rs8071195 | Benign |
60782 | Q9BZF3 (OSBPL6) | R | Q | 53 | rs35032920 | Benign |
60783 | Q9BZF3 (OSBPL6) | P | L | 58 | rs34874235 | Benign |
60784 | Q9BZF9 (UACA) | I | T | 814 | rs3743315 | Benign |
60785 | Q9BZG1 (RAB34) | V | L | 197 | rs12125 | Benign |
60786 | Q9BZG2 (ACP4) | R | C | 76 | rs1057519277 | Disease: Amelogenesis imperfecta 1J (AI1J) [MIM:617297] |
60787 | Q9BZG2 (ACP4) | R | C | 111 | rs202073531 | Disease: Amelogenesis imperfecta 1J (AI1J) [MIM:617297] |
60788 | Q9BZG2 (ACP4) | S | L | 238 | rs763573828 | Disease: Amelogenesis imperfecta 1J (AI1J) [MIM:617297] |
60789 | Q9BZG8 (DPH1) | M | K | 6 | rs757167361 | Disease: Developmenta l delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH) [MIM:616901] |
60790 | Q9BZG8 (DPH1) | I | M | 51 | rs8070453 | Benign |
60791 | Q9BZG8 (DPH1) | K | R | 226 | rs1131600 | Benign |
60792 | Q9BZG8 (DPH1) | L | P | 234 | rs730882250 | Disease: Developmenta l delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH) [MIM:616901] |
60793 | Q9BZH6 (WDR11) | R | W | 395 | rs201051480 | Disease: Hypogonadotr opic hypogonadism 14 with or without anosmia (HH14) [MIM:614858] |
60794 | Q9BZH6 (WDR11) | A | T | 435 | rs318240760 | Disease: Hypogonadotr opic hypogonadism 14 with or without anosmia (HH14) [MIM:614858] |
60795 | Q9BZH6 (WDR11) | R | Q | 448 | rs144440500 | Disease: Hypogonadotr opic hypogonadism 14 with or without anosmia (HH14) [MIM:614858] |
60796 | Q9BZH6 (WDR11) | P | L | 537 | rs761599645 | Disease: Hypogonadotr opic hypogonadism 14 with or without anosmia (HH14) [MIM:614858] |
60797 | Q9BZH6 (WDR11) | H | Q | 690 | rs318240761 | Disease: Hypogonadotr opic hypogonadism 14 with or without anosmia (HH14) [MIM:614858] |
60798 | Q9BZH6 (WDR11) | K | Q | 978 | rs144531702 | Benign |
60799 | Q9BZH6 (WDR11) | F | L | 1150 | rs139007744 | Disease: Hypogonadotr opic hypogonadism 14 with or without anosmia (HH14) [MIM:614858] |
60800 | Q9BZI7 (UPF3B) | Y | D | 160 | rs122468182 | Disease: Mental retardation, X-linked, syndromic, 14 (MRXS14) [MIM:300676] |
60801 | Q9BZJ0 (CRNKL1) | G | R | 35 | rs7508949 | Benign |
60802 | Q9BZJ0 (CRNKL1) | F | L | 51 | rs2273058 | Benign |
60803 | Q9BZJ0 (CRNKL1) | Q | H | 111 | rs2255258 | Benign |
60804 | Q9BZJ0 (CRNKL1) | T | A | 158 | rs2255255 | Benign |
60805 | Q9BZJ0 (CRNKL1) | V | I | 843 | rs35201190 | Benign |
60806 | Q9BZJ3 (TPSD1) | P | R | 22 | rs3865205 | Benign |
60807 | Q9BZJ3 (TPSD1) | V | A | 25 | rs1800984 | Benign |
60808 | Q9BZJ3 (TPSD1) | V | M | 83 | rs1141967 | Benign |
60809 | Q9BZJ4 (SLC25A39) | F | L | 247 | rs2011951 | Benign |
60810 | Q9BZJ6 (GPR63) | V | M | 21 | rs35358396 | Benign |
60811 | Q9BZJ7 (GPR62) | T | P | 151 | rs28587738 | Benign |
60812 | Q9BZJ7 (GPR62) | H | R | 216 | rs28651222 | Benign |
60813 | Q9BZJ7 (GPR62) | V | L | 313 | rs323871 | Benign |
60814 | Q9BZK7 (TBL1XR1) | G | D | 70 | rs786205859 | Disease: Mental retardation, autosomal dominant 41 (MRD41) [MIM:616944] |
60815 | Q9BZK7 (TBL1XR1) | A | S | 116 | rs372813783 | Benign |
60816 | Q9BZK7 (TBL1XR1) | Y | C | 245 | rs878854401 | Disease: Mental retardation, autosomal dominant 41 (MRD41) [MIM:616944] |
60817 | Q9BZK7 (TBL1XR1) | L | P | 282 | - | Disease: Mental retardation, autosomal dominant 41 (MRD41) [MIM:616944] |
60818 | Q9BZK7 (TBL1XR1) | Y | C | 446 | rs878854402 | Disease: Pierpont syndrome (PRPTS) [MIM:602342] |
60819 | Q9BZL4 (PPP1R12C) | R | C | 419 | rs35849605 | Benign |
60820 | Q9BZL6 (PRKD2) | V | M | 324 | rs45455991 | Benign |
60821 | Q9BZL6 (PRKD2) | A | V | 496 | rs55716765 | Benign |
60822 | Q9BZL6 (PRKD2) | S | G | 604 | rs34325043 | Benign |
60823 | Q9BZL6 (PRKD2) | W | R | 773 | rs55933311 | Benign |
60824 | Q9BZL6 (PRKD2) | A | V | 835 | rs314665 | Benign |
60825 | Q9BZM3 (GSX2) | G | S | 107 | rs13144341 | Benign |
60826 | Q9BZM3 (GSX2) | Q | R | 251 | - | Disease: Diencephalic -mesencephal ic junction dysplasia syndrome 2 (DMJDS2) [MIM:618646] |
60827 | Q9BZM6 (ULBP1) | L | I | 101 | rs6903584 | Benign |
60828 | Q9BZP6 (CHIA) | N | D | 45 | rs41282492 | Benign |
60829 | Q9BZP6 (CHIA) | D | N | 47 | rs41282494 | Benign |
60830 | Q9BZP6 (CHIA) | R | M | 61 | rs41282496 | Benign |
60831 | Q9BZP6 (CHIA) | G | R | 102 | rs3818822 | Benign |
60832 | Q9BZP6 (CHIA) | K | R | 125 | rs61756687 | Benign |
60833 | Q9BZP6 (CHIA) | V | G | 324 | rs2256721 | Benign |
60834 | Q9BZP6 (CHIA) | I | V | 339 | rs2275253 | Benign |
60835 | Q9BZP6 (CHIA) | F | S | 354 | rs2275254 | Benign |
60836 | Q9BZP6 (CHIA) | F | L | 377 | rs36011905 | Benign |
60837 | Q9BZP6 (CHIA) | V | G | 432 | rs2256721 | Benign |
60838 | Q9BZQ2 (SHCBP1L) | V | M | 491 | rs12138972 | Benign |
60839 | Q9BZQ6 (EDEM3) | I | S | 820 | rs9425343 | Benign |
60840 | Q9BZQ8 (NIBAN1) | S | L | 633 | rs12750174 | Benign |
60841 | Q9BZQ8 (NIBAN1) | D | N | 692 | rs35704242 | Benign |
60842 | Q9BZQ8 (NIBAN1) | V | M | 720 | rs17313374 | Benign |
60843 | Q9BZQ8 (NIBAN1) | G | S | 830 | rs35601690 | Benign |
60844 | Q9BZR6 (RTN4R) | V | M | 53 | rs145292678 | Benign |
60845 | Q9BZR6 (RTN4R) | R | H | 68 | rs145773589 | Benign |
60846 | Q9BZR6 (RTN4R) | R | W | 119 | rs74315508 | Disease: Schizophreni a (SCZD) [MIM:181500] |
60847 | Q9BZR6 (RTN4R) | G | S | 141 | rs760855779 | Benign |
60848 | Q9BZR6 (RTN4R) | R | H | 196 | rs74315509 | Disease: Schizophreni a (SCZD) [MIM:181500] |
60849 | Q9BZR6 (RTN4R) | R | H | 227 | rs576939822 | Benign |
60850 | Q9BZR6 (RTN4R) | D | N | 259 | rs3747073 | Benign |
60851 | Q9BZR6 (RTN4R) | V | M | 263 | rs752810777 | Benign |
60852 | Q9BZR6 (RTN4R) | R | H | 292 | rs1432033565 | Disease: Schizophreni a (SCZD) [MIM:181500] |
60853 | Q9BZR6 (RTN4R) | G | S | 314 | rs112151786 | Benign |
60854 | Q9BZR6 (RTN4R) | P | L | 329 | rs757507039 | Benign |
60855 | Q9BZR6 (RTN4R) | V | M | 363 | rs149231717 | Benign |
60856 | Q9BZR6 (RTN4R) | R | Q | 377 | rs779384862 | Disease: Schizophreni a (SCZD) [MIM:181500] |
60857 | Q9BZR6 (RTN4R) | R | W | 377 | rs748655075 | Disease: Schizophreni a (SCZD) [MIM:181500] |
60858 | Q9BZS1 (FOXP3) | L | P | 242 | - | Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] |
60859 | Q9BZS1 (FOXP3) | F | L | 324 | rs122467173 | Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] |
60860 | Q9BZS1 (FOXP3) | P | A | 339 | rs886044787 | Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] |
60861 | Q9BZS1 (FOXP3) | R | H | 347 | - | Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] |
60862 | Q9BZS1 (FOXP3) | I | V | 363 | - | Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] |
60863 | Q9BZS1 (FOXP3) | F | C | 371 | rs122467169 | Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] |
60864 | Q9BZS1 (FOXP3) | F | A | 373 | rs122467172 | Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] |
60865 | Q9BZS1 (FOXP3) | F | C | 374 | - | Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] |
60866 | Q9BZS1 (FOXP3) | A | T | 384 | rs122467170 | Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] |
60867 | Q9BZS1 (FOXP3) | R | W | 397 | rs28935477 | Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] |
60868 | Q9BZV1 (UBXN6) | A | T | 31 | rs1127888 | Benign |
60869 | Q9BZV1 (UBXN6) | P | L | 425 | rs35436704 | Benign |
60870 | Q9BZV2 (SLC19A3) | G | V | 23 | rs121917882 | Disease: Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine- responsive type (THMD2) [MIM:607483] |
60871 | Q9BZV2 (SLC19A3) | V | I | 174 | rs59736804 | Benign |
60872 | Q9BZV2 (SLC19A3) | V | A | 350 | rs34507036 | Benign |
60873 | Q9BZV2 (SLC19A3) | T | A | 422 | rs121917884 | Disease: Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine- responsive type (THMD2) [MIM:607483] |
60874 | Q9BZV3 (IMPG2) | F | L | 124 | rs201893545 | Disease: Macular dystrophy, vitelliform, 5 (VMD5) [MIM:616152] |
60875 | Q9BZV3 (IMPG2) | K | N | 344 | rs34375459 | Benign |
60876 | Q9BZV3 (IMPG2) | T | I | 674 | rs571391 | Benign |
60877 | Q9BZV3 (IMPG2) | P | L | 1013 | rs116450347 | Benign |
60878 | Q9BZV3 (IMPG2) | C | F | 1077 | rs713993049 | Disease: Macular dystrophy, vitelliform, 5 (VMD5) [MIM:616152] |
60879 | Q9BZW2 (SLC13A1) | F | L | 42 | rs28364181 | Benign |
60880 | Q9BZW2 (SLC13A1) | V | I | 44 | rs28364177 | Benign |
60881 | Q9BZW2 (SLC13A1) | Q | E | 157 | rs28364196 | Benign |
60882 | Q9BZW2 (SLC13A1) | N | S | 174 | rs2140516 | Benign |
60883 | Q9BZW2 (SLC13A1) | Y | C | 205 | rs28364231 | Benign |
60884 | Q9BZW2 (SLC13A1) | T | M | 240 | rs10231144 | Benign |
60885 | Q9BZW2 (SLC13A1) | R | H | 277 | rs28364200 | Benign |
60886 | Q9BZW2 (SLC13A1) | V | A | 332 | rs28364201 | Benign |
60887 | Q9BZW2 (SLC13A1) | I | T | 392 | rs28364210 | Benign |
60888 | Q9BZW4 (TM6SF2) | E | K | 167 | rs58542926 | Benign |
60889 | Q9BZW5 (TM6SF1) | I | T | 17 | rs1062232 | Benign |
60890 | Q9BZW5 (TM6SF1) | P | S | 59 | rs1989 | Benign |
60891 | Q9BZW8 (CD244) | N | D | 89 | rs34846692 | Benign |
60892 | Q9BZW8 (CD244) | S | F | 323 | rs12064925 | Benign |
60893 | Q9BZY9 (TRIM31) | P | R | 17 | rs36063651 | Benign |
60894 | Q9BZY9 (TRIM31) | R | C | 118 | rs3734838 | Benign |
60895 | Q9BZY9 (TRIM31) | V | I | 232 | rs2523989 | Benign |
60896 | Q9BZY9 (TRIM31) | L | P | 235 | rs35775852 | Benign |
60897 | Q9BZY9 (TRIM31) | E | K | 421 | rs1116221 | Benign |
60898 | Q9BZZ2 (SIGLEC1) | V | L | 141 | rs35953127 | Benign |
60899 | Q9BZZ2 (SIGLEC1) | V | M | 221 | rs6037651 | Benign |
60900 | Q9BZZ2 (SIGLEC1) | K | R | 239 | rs625372 | Benign |
60901 | Q9BZZ2 (SIGLEC1) | R | H | 464 | rs34924243 | Benign |
60902 | Q9BZZ2 (SIGLEC1) | H | P | 919 | rs709012 | Benign |
60903 | Q9BZZ2 (SIGLEC1) | A | V | 974 | rs3746638 | Benign |
60904 | Q9BZZ2 (SIGLEC1) | S | Y | 1335 | rs3746636 | Benign |
60905 | Q9BZZ2 (SIGLEC1) | R | W | 1487 | rs16988873 | Benign |
60906 | Q9BZZ2 (SIGLEC1) | A | P | 1519 | rs2853217 | Benign |
60907 | Q9BZZ5 (API5) | P | S | 276 | - | Benign |
60908 | Q9BZZ5 (API5) | M | V | 300 | rs5743240 | Benign |
60909 | Q9BZZ5 (API5) | G | S | 493 | rs2862934 | Benign |
60910 | Q9C000 (NLRP1) | A | T | 54 | rs1057519492 | Disease: Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225] |
60911 | Q9C000 (NLRP1) | A | V | 66 | rs1057519493 | Disease: Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225] |
60912 | Q9C000 (NLRP1) | M | T | 77 | rs397514692 | Disease: Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225] |
60913 | Q9C000 (NLRP1) | L | H | 155 | rs12150220 | Disease: Vitiligo- associated multiple autoimmune disease 1 (VAMAS1) [MIM:606579] |
60914 | Q9C000 (NLRP1) | T | S | 246 | rs11651595 | Benign |
60915 | Q9C000 (NLRP1) | R | Q | 404 | rs3744718 | Benign |
60916 | Q9C000 (NLRP1) | T | M | 878 | rs11657747 | Benign |
60917 | Q9C000 (NLRP1) | V | M | 1059 | rs2301582 | Benign |
60918 | Q9C000 (NLRP1) | H | Y | 1069 | rs9907167 | Benign |
60919 | Q9C000 (NLRP1) | M | V | 1119 | rs35596958 | Benign |
60920 | Q9C000 (NLRP1) | M | V | 1184 | rs11651270 | Benign |
60921 | Q9C000 (NLRP1) | V | L | 1241 | rs11653832 | Benign |
60922 | Q9C000 (NLRP1) | R | C | 1366 | rs2137722 | Benign |
60923 | Q9C004 (SPRY4) | T | M | 77 | rs774674946 | Disease: Hypogonadotr opic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] |
60924 | Q9C004 (SPRY4) | D | N | 82 | rs568363732 | Disease: Hypogonadotr opic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] |
60925 | Q9C004 (SPRY4) | K | R | 154 | rs78310959 | Disease: Hypogonadotr opic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] |
60926 | Q9C004 (SPRY4) | C | Y | 186 | rs148983803 | Disease: Hypogonadotr opic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] |
60927 | Q9C004 (SPRY4) | S | Y | 218 | rs139512218 | Disease: Hypogonadotr opic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] |
60928 | Q9C004 (SPRY4) | V | M | 258 | rs200364529 | Disease: Hypogonadotr opic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] |
60929 | Q9C004 (SPRY4) | V | I | 281 | rs142439525 | Disease: Hypogonadotr opic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] |
60930 | Q9C009 (FOXQ1) | T | P | 60 | rs9502889 | Benign |
60931 | Q9C009 (FOXQ1) | Q | P | 61 | rs9502890 | Benign |
60932 | Q9C019 (TRIM15) | I | V | 29 | rs17194460 | Benign |
60933 | Q9C019 (TRIM15) | A | T | 42 | rs17194467 | Benign |
60934 | Q9C019 (TRIM15) | E | Q | 84 | rs17194474 | Benign |
60935 | Q9C019 (TRIM15) | L | V | 235 | rs34823152 | Benign |
60936 | Q9C019 (TRIM15) | S | N | 324 | rs929156 | Benign |
60937 | Q9C026 (TRIM9) | L | F | 653 | rs2275462 | Benign |
60938 | Q9C029 (TRIM7) | A | S | 18 | rs3857300 | Benign |
60939 | Q9C029 (TRIM7) | P | S | 73 | rs2770946 | Benign |
60940 | Q9C029 (TRIM7) | Q | E | 95 | rs2770945 | Benign |
60941 | Q9C029 (TRIM7) | V | A | 258 | rs416574 | Benign |
60942 | Q9C029 (TRIM7) | G | S | 363 | rs254460 | Benign |
60943 | Q9C030 (TRIM6) | E | K | 154 | rs57856328 | Benign |
60944 | Q9C035 (TRIM5) | G | S | 31 | rs59896509 | Benign |
60945 | Q9C035 (TRIM5) | H | Y | 43 | rs3740996 | Benign |
60946 | Q9C035 (TRIM5) | C | Y | 58 | rs61432120 | Benign |
60947 | Q9C035 (TRIM5) | G | E | 110 | rs56348930 | Benign |
60948 | Q9C035 (TRIM5) | V | F | 112 | rs11601507 | Benign |
60949 | Q9C035 (TRIM5) | R | Q | 136 | rs10838525 | Benign |
60950 | Q9C035 (TRIM5) | G | D | 249 | rs11038628 | Benign |
60951 | Q9C035 (TRIM5) | H | Y | 419 | rs28381981 | Benign |
60952 | Q9C035 (TRIM5) | C | S | 467 | rs59218593 | Benign |
60953 | Q9C035 (TRIM5) | P | L | 479 | rs7104422 | Benign |
60954 | Q9C037 (TRIM4) | P | S | 367 | rs35432946 | Benign |
60955 | Q9C037 (TRIM4) | S | C | 474 | rs33998596 | Benign |
60956 | Q9C040 (TRIM2) | E | V | 227 | rs587777063 | Disease: Charcot- Marie-Tooth disease 2R (CMT2R) [MIM:615490] |
60957 | Q9C056 (NKX6-2) | V | A | 209 | rs2804003 | Benign |
60958 | Q9C075 (KRT23) | T | A | 303 | rs9257 | Benign |
60959 | Q9C075 (KRT23) | S | F | 393 | rs17856805 | Benign |
60960 | Q9C086 (INO80B) | W | G | 152 | rs1054209 | Benign |
60961 | Q9C091 (GREB1L) | R | H | 128 | - | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60962 | Q9C091 (GREB1L) | R | L | 192 | - | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60963 | Q9C091 (GREB1L) | R | Q | 241 | rs147048716 | Benign |
60964 | Q9C091 (GREB1L) | G | V | 273 | - | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60965 | Q9C091 (GREB1L) | R | Q | 328 | rs1311814599 | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60966 | Q9C091 (GREB1L) | A | G | 497 | - | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60967 | Q9C091 (GREB1L) | S | R | 605 | - | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60968 | Q9C091 (GREB1L) | L | F | 716 | - | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60969 | Q9C091 (GREB1L) | R | C | 751 | rs1555654020 | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60970 | Q9C091 (GREB1L) | R | H | 751 | rs1343579561 | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60971 | Q9C091 (GREB1L) | E | Q | 761 | rs1465443065 | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60972 | Q9C091 (GREB1L) | A | V | 926 | rs569900756 | Benign |
60973 | Q9C091 (GREB1L) | R | P | 1066 | rs766987038 | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60974 | Q9C091 (GREB1L) | M | T | 1502 | - | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60975 | Q9C091 (GREB1L) | D | V | 1509 | rs1336205837 | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60976 | Q9C091 (GREB1L) | H | R | 1536 | rs1555662027 | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60977 | Q9C091 (GREB1L) | V | A | 1549 | - | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60978 | Q9C091 (GREB1L) | R | S | 1558 | rs1045574508 | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60979 | Q9C091 (GREB1L) | L | P | 1567 | rs1555662061 | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60980 | Q9C091 (GREB1L) | A | V | 1576 | - | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60981 | Q9C091 (GREB1L) | V | I | 1615 | rs1409376788 | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60982 | Q9C091 (GREB1L) | I | T | 1655 | - | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60983 | Q9C091 (GREB1L) | Y | C | 1664 | - | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60984 | Q9C091 (GREB1L) | V | M | 1690 | rs1555663997 | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60985 | Q9C091 (GREB1L) | D | N | 1775 | - | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60986 | Q9C091 (GREB1L) | L | R | 1793 | rs1555664772 | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60987 | Q9C091 (GREB1L) | R | H | 1884 | rs1372640211 | Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805] |
60988 | Q9C093 (SPEF2) | N | H | 71 | rs6897513 | Benign |
60989 | Q9C093 (SPEF2) | G | S | 74 | rs34307272 | Benign |
60990 | Q9C093 (SPEF2) | R | K | 366 | rs16902381 | Benign |
60991 | Q9C093 (SPEF2) | R | Q | 447 | rs34852821 | Benign |
60992 | Q9C093 (SPEF2) | D | N | 500 | rs34708521 | Benign |
60993 | Q9C093 (SPEF2) | N | K | 616 | rs7710284 | Benign |
60994 | Q9C093 (SPEF2) | E | G | 655 | rs12332369 | Benign |
60995 | Q9C093 (SPEF2) | A | V | 904 | rs13170082 | Benign |
60996 | Q9C093 (SPEF2) | A | P | 934 | rs13170390 | Benign |
60997 | Q9C093 (SPEF2) | K | N | 1482 | rs2277044 | Benign |
60998 | Q9C098 (DCLK3) | R | Q | 24 | rs56070233 | Benign |
60999 | Q9C098 (DCLK3) | E | D | 633 | rs35704209 | Benign |
61000 | Q9C099 (LRRCC1) | H | Q | 69 | rs16913589 | Benign |
61001 | Q9C099 (LRRCC1) | T | A | 210 | rs3736038 | Benign |
61002 | Q9C099 (LRRCC1) | K | N | 613 | rs6985225 | Benign |
61003 | Q9C0A0 (CNTNAP4) | L | V | 276 | rs34251012 | Benign |
61004 | Q9C0A0 (CNTNAP4) | Q | H | 513 | rs6564343 | Benign |
61005 | Q9C0A0 (CNTNAP4) | Q | R | 786 | rs12933808 | Benign |
61006 | Q9C0A0 (CNTNAP4) | D | E | 1155 | rs7202925 | Benign |
61007 | Q9C0A0 (CNTNAP4) | N | S | 1300 | rs34198820 | Benign |
61008 | Q9C0A1 (ZFHX2) | R | K | 1913 | rs1555344723 | Disease: Marsili syndrome (MARSIS) [MIM:147430] |
61009 | Q9C0A6 (SETD5) | R | H | 77 | rs41387348 | Benign |
61010 | Q9C0A6 (SETD5) | R | I | 119 | rs11720526 | Benign |
61011 | Q9C0A6 (SETD5) | S | G | 175 | - | Disease: Mental retardation, autosomal dominant 23 (MRD23) [MIM:615761] |
61012 | Q9C0A6 (SETD5) | M | V | 1137 | rs13327456 | Benign |
61013 | Q9C0A6 (SETD5) | T | I | 1308 | rs11542009 | Benign |
61014 | Q9C0B1 (FTO) | R | Q | 316 | rs121918214 | Disease: Growth retardation, developmenta l delay, and facial dysmorphism (GDFD) [MIM:612938] |
61015 | Q9C0B1 (FTO) | S | F | 319 | rs781028867 | Disease: Growth retardation, developmenta l delay, and facial dysmorphism (GDFD) [MIM:612938] |
61016 | Q9C0B1 (FTO) | R | Q | 322 | rs745616565 | Disease: Growth retardation, developmenta l delay, and facial dysmorphism (GDFD) [MIM:612938] |
61017 | Q9C0B1 (FTO) | A | V | 405 | rs16952624 | Benign |
61018 | Q9C0B2 (CFAP74) | S | I | 50 | rs13303083 | Benign |
61019 | Q9C0B2 (CFAP74) | I | V | 363 | rs16824588 | Benign |
61020 | Q9C0B2 (CFAP74) | G | C | 628 | rs3820011 | Benign |
61021 | Q9C0B6 (BRINP2) | Y | C | 71 | rs16850984 | Benign |
61022 | Q9C0B6 (BRINP2) | L | V | 390 | rs3176443 | Benign |
61023 | Q9C0B9 (ZCCHC2) | T | A | 941 | rs35643152 | Benign |
61024 | Q9C0C2 (TNKS1BP1) | T | S | 322 | rs4939134 | Benign |
61025 | Q9C0C2 (TNKS1BP1) | S | N | 714 | rs34203865 | Benign |
61026 | Q9C0C6 (CIPC) | L | F | 31 | rs11552006 | Benign |
61027 | Q9C0C6 (CIPC) | T | A | 203 | rs759593 | Benign |
61028 | Q9C0C9 (UBE2O) | G | S | 1207 | rs3803739 | Benign |
61029 | Q9C0D0 (PHACTR1) | I | M | 247 | rs17602409 | Benign |
61030 | Q9C0D0 (PHACTR1) | N | I | 479 | - | Disease: Epileptic encephalopat hy, early infantile, 70 (EIEE70) [MIM:618298] |
61031 | Q9C0D0 (PHACTR1) | L | P | 500 | - | Disease: Epileptic encephalopat hy, early infantile, 70 (EIEE70) [MIM:618298] |
61032 | Q9C0D0 (PHACTR1) | R | C | 521 | rs748743403 | Disease: Epileptic encephalopat hy, early infantile, 70 (EIEE70) [MIM:618298] |
61033 | Q9C0D2 (CEP295) | Q | K | 80 | rs7128850 | Benign |
61034 | Q9C0D2 (CEP295) | R | Q | 208 | rs10831088 | Benign |
61035 | Q9C0D2 (CEP295) | A | E | 499 | rs4753495 | Benign |
61036 | Q9C0D2 (CEP295) | E | K | 1026 | rs3802771 | Benign |
61037 | Q9C0D2 (CEP295) | A | G | 1270 | rs2298707 | Benign |
61038 | Q9C0D2 (CEP295) | G | E | 1441 | rs3802773 | Benign |
61039 | Q9C0D2 (CEP295) | L | R | 1459 | rs3802774 | Benign |
61040 | Q9C0D4 (ZNF518B) | G | S | 92 | rs10007352 | Benign |
61041 | Q9C0D4 (ZNF518B) | S | P | 105 | rs10016702 | Benign |
61042 | Q9C0D4 (ZNF518B) | S | N | 523 | rs9291410 | Benign |
61043 | Q9C0D5 (TANC1) | P | S | 30 | rs34588551 | Benign |
61044 | Q9C0D5 (TANC1) | N | S | 251 | rs12466551 | Benign |
61045 | Q9C0D5 (TANC1) | G | S | 1511 | rs13421084 | Benign |
61046 | Q9C0D5 (TANC1) | T | A | 1573 | rs4664277 | Benign |
61047 | Q9C0D6 (FHDC1) | L | F | 297 | - | Benign |
61048 | Q9C0D6 (FHDC1) | R | C | 639 | rs3811833 | Benign |
61049 | Q9C0E2 (XPO4) | N | S | 149 | rs17320607 | Benign |
61050 | Q9C0E2 (XPO4) | T | A | 451 | rs9552285 | Benign |
61051 | Q9C0F0 (ASXL3) | N | S | 954 | rs2282632 | Benign |
61052 | Q9C0F0 (ASXL3) | M | R | 1415 | rs16964887 | Benign |
61053 | Q9C0F0 (ASXL3) | V | M | 1652 | rs17746949 | Benign |
61054 | Q9C0F0 (ASXL3) | M | V | 1708 | rs7232237 | Benign |
61055 | Q9C0F1 (CEP44) | G | S | 147 | rs4695918 | Benign |
61056 | Q9C0G0 (ZNF407) | N | S | 69 | rs3794942 | Benign |
61057 | Q9C0G0 (ZNF407) | G | R | 512 | rs7227263 | Benign |
61058 | Q9C0G0 (ZNF407) | N | T | 972 | rs948615 | Benign |
61059 | Q9C0G0 (ZNF407) | S | L | 1259 | rs34048449 | Benign |
61060 | Q9C0G0 (ZNF407) | A | T | 1913 | rs17056248 | Benign |
61061 | Q9C0I3 (CCSER1) | G | S | 382 | rs12647859 | Benign |
61062 | Q9C0I9 (LRRC27) | R | C | 195 | rs2474329 | Benign |
61063 | Q9C0J1 (B3GNT4) | P | A | 6 | rs7136356 | Benign |
61064 | Q9C0J1 (B3GNT4) | S | T | 83 | rs1001178 | Benign |
61065 | Q9C0J1 (B3GNT4) | L | P | 87 | rs35203505 | Benign |
61066 | Q9C0J8 (WDR33) | A | S | 33 | rs11557686 | Benign |
61067 | Q9C0J8 (WDR33) | P | R | 711 | rs12615078 | Benign |
61068 | Q9C0J9 (BHLHE41) | P | R | 384 | rs121912617 | Benign |
61069 | Q9C0K0 (BCL11B) | P | S | 229 | rs749837100 | Benign |
61070 | Q9C0K0 (BCL11B) | N | K | 441 | rs750610248 | Disease: Immunodefici ency 49 (IMD49) [MIM:617237] |
61071 | Q9C0K0 (BCL11B) | N | K | 807 | - | Disease: Immunodefici ency 49 (IMD49) [MIM:617237] |
61072 | Q9C0K1 (SLC39A8) | V | M | 33 | rs373562040 | Disease: Congenital disorder of glycosylatio n 2N (CDG2N) [MIM:616721] |
61073 | Q9C0K1 (SLC39A8) | G | R | 38 | rs778210210 | Disease: Congenital disorder of glycosylatio n 2N (CDG2N) [MIM:616721] |
61074 | Q9C0K1 (SLC39A8) | C | S | 113 | rs1444255127 | Disease: - |
61075 | Q9C0K1 (SLC39A8) | G | C | 204 | rs779241085 | Disease: Congenital disorder of glycosylatio n 2N (CDG2N) [MIM:616721] |
61076 | Q9C0K1 (SLC39A8) | S | T | 335 | rs864309660 | Disease: Congenital disorder of glycosylatio n 2N (CDG2N) [MIM:616721] |
61077 | Q9C0K1 (SLC39A8) | I | N | 340 | rs864309659 | Disease: Congenital disorder of glycosylatio n 2N (CDG2N) [MIM:616721] |
61078 | Q9C0K1 (SLC39A8) | A | T | 391 | rs13107325 | Benign |
61079 | Q9C0K7 (STRADB) | P | L | 386 | rs35636836 | Benign |
61080 | Q9GZK3 (OR2B2) | A | P | 183 | rs9368537 | Benign |
61081 | Q9GZK3 (OR2B2) | Q | R | 234 | rs34957169 | Benign |
61082 | Q9GZK3 (OR2B2) | A | S | 300 | rs34788973 | Benign |
61083 | Q9GZK4 (OR2H1) | D | N | 63 | rs61732185 | Benign |
61084 | Q9GZK4 (OR2H1) | V | M | 223 | rs17184086 | Benign |
61085 | Q9GZK6 (OR2J1) | L | I | 14 | rs3131087 | Benign |
61086 | Q9GZK7 (OR11A1) | Y | C | 121 | rs16894898 | Benign |
61087 | Q9GZK7 (OR11A1) | A | T | 165 | rs9257857 | Benign |
61088 | Q9GZL7 (WDR12) | M | V | 72 | - | Benign |
61089 | Q9GZL7 (WDR12) | I | V | 75 | rs35212307 | Benign |
61090 | Q9GZL7 (WDR12) | Y | C | 89 | rs751438871 | Benign |
61091 | Q9GZL7 (WDR12) | E | G | 286 | - | Benign |
61092 | Q9GZM3 (POLR2J2) | K | N | 28 | rs62483491 | Benign |
61093 | Q9GZM5 (YIPF3) | A | V | 5 | rs2231763 | Benign |
61094 | Q9GZM6 (OR8D2) | R | H | 122 | rs2512219 | Benign |
61095 | Q9GZM6 (OR8D2) | P | L | 263 | rs2466620 | Benign |
61096 | Q9GZM7 (TINAGL1) | A | S | 69 | rs17497479 | Benign |
61097 | Q9GZN0 (GPR88) | V | I | 190 | rs2809819 | Benign |
61098 | Q9GZN0 (GPR88) | Q | H | 318 | rs3001995 | Benign |
61099 | Q9GZN6 (SLC6A16) | S | R | 108 | rs35860981 | Benign |
61100 | Q9GZN7 (ROGDI) | E | K | 59 | rs2305659 | Benign |
61101 | Q9GZP0 (PDGFD) | I | V | 190 | rs35045740 | Benign |
61102 | Q9GZP1 (NRSN2) | L | V | 41 | rs11556643 | Benign |
61103 | Q9GZP1 (NRSN2) | S | C | 65 | rs17762763 | Benign |
61104 | Q9GZP1 (NRSN2) | E | Q | 160 | rs35731713 | Benign |
61105 | Q9GZP7 (VN1R1) | I | M | 103 | rs3746223 | Benign |
61106 | Q9GZP7 (VN1R1) | I | T | 139 | rs374900565 | Benign |
61107 | Q9GZP7 (VN1R1) | S | F | 241 | rs28649880 | Benign |
61108 | Q9GZP7 (VN1R1) | A | D | 269 | rs61744949 | Benign |
61109 | Q9GZQ3 (COMMD5) | A | T | 6 | rs1209879 | Benign |
61110 | Q9GZQ3 (COMMD5) | Q | H | 69 | rs421427 | Benign |
61111 | Q9GZQ4 (NMUR2) | S | T | 298 | rs4958535 | Benign |
61112 | Q9GZQ4 (NMUR2) | F | L | 315 | rs1895245 | Benign |
61113 | Q9GZQ4 (NMUR2) | P | L | 383 | rs4958532 | Benign |
61114 | Q9GZQ4 (NMUR2) | M | V | 388 | rs4958531 | Benign |
61115 | Q9GZQ4 (NMUR2) | A | T | 395 | rs1363422 | Benign |
61116 | Q9GZQ6 (NPFFR1) | I | L | 145 | rs3812694 | Benign |
61117 | Q9GZR1 (SENP6) | T | M | 121 | rs17414086 | Benign |
61118 | Q9GZR1 (SENP6) | E | K | 637 | rs1061347 | Benign |
61119 | Q9GZR1 (SENP6) | R | P | 717 | rs12195603 | Benign |
61120 | Q9GZR1 (SENP6) | A | V | 820 | rs34045941 | Benign |
61121 | Q9GZR1 (SENP6) | Y | C | 1106 | rs9250 | Benign |
61122 | Q9GZR2 (REXO4) | R | K | 141 | rs6597630 | Benign |
61123 | Q9GZR2 (REXO4) | T | A | 283 | rs2285487 | Benign |
61124 | Q9GZR5 (ELOVL4) | L | F | 168 | rs587777598 | Disease: Spinocerebel lar ataxia 34 (SCA34) [MIM:133190] |
61125 | Q9GZR5 (ELOVL4) | I | T | 267 | rs148594713 | Benign |
61126 | Q9GZR5 (ELOVL4) | M | V | 299 | rs3812153 | Benign |
61127 | Q9GZR7 (DDX24) | E | K | 316 | rs35413935 | Benign |
61128 | Q9GZS0 (DNAI2) | V | I | 495 | rs28725418 | Benign |
61129 | Q9GZS0 (DNAI2) | A | T | 558 | rs1979370 | Benign |
61130 | Q9GZS1 (POLR1E) | D | H | 192 | rs7863488 | Benign |
61131 | Q9GZS1 (POLR1E) | V | M | 356 | rs7867180 | Benign |
61132 | Q9GZS1 (POLR1E) | R | K | 383 | rs10814571 | Benign |
61133 | Q9GZS9 (CHST5) | A | T | 311 | rs7206332 | Benign |
61134 | Q9GZS9 (CHST5) | T | M | 318 | rs3826107 | Benign |
61135 | Q9GZT5 (WNT10A) | E | K | 95 | rs318240759 | Disease: Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] |
61136 | Q9GZT5 (WNT10A) | R | Q | 128 | rs121908121 | Disease: Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] |
61137 | Q9GZT5 (WNT10A) | A | T | 131 | rs372993798 | Disease: Schopf- Schulz- Passarge syndrome (SSPS) [MIM:224750] |
61138 | Q9GZT5 (WNT10A) | A | V | 131 | - | Disease: Odonto- onycho- dermal dysplasia (OODD) [MIM:257980] |
61139 | Q9GZT5 (WNT10A) | F | I | 228 | rs121908120 | Disease: Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] |
61140 | Q9GZT5 (WNT10A) | G | C | 266 | - | Disease: Schopf- Schulz- Passarge syndrome (SSPS) [MIM:224750] |
61141 | Q9GZT5 (WNT10A) | W | C | 277 | rs1234227647 | Disease: Tooth agenesis, selective, 4 (STHAG4) [MIM:150400] |
61142 | Q9GZT5 (WNT10A) | P | T | 302 | rs1057306 | Benign |
61143 | Q9GZT5 (WNT10A) | R | C | 360 | - | Disease: - |
61144 | Q9GZT6 (CCDC90B) | F | L | 10 | rs494791 | Benign |
61145 | Q9GZT8 (NIF3L1) | T | I | 324 | rs7917 | Benign |
61146 | Q9GZT9 (EGLN1) | D | E | 4 | rs186996510 | Benign |
61147 | Q9GZT9 (EGLN1) | C | S | 127 | rs12097901 | Benign |
61148 | Q9GZT9 (EGLN1) | P | R | 317 | rs80358193 | Disease: Erythrocytos is, familial, 3 (ECYT3) [MIM:609820] |
61149 | Q9GZT9 (EGLN1) | R | H | 371 | rs119476044 | Disease: Erythrocytos is, familial, 3 (ECYT3) [MIM:609820] |
61150 | Q9GZU0 (C6orf62) | W | C | 116 | rs34238213 | Benign |
61151 | Q9GZU0 (C6orf62) | R | S | 140 | rs35050510 | Benign |
61152 | Q9GZU1 (MCOLN1) | L | P | 106 | rs797044825 | Disease: Mucolipidosi s 4 (ML4) [MIM:252650] |
61153 | Q9GZU1 (MCOLN1) | T | P | 232 | rs767122713 | Disease: Mucolipidosi s 4 (ML4) [MIM:252650] |
61154 | Q9GZU1 (MCOLN1) | D | Y | 362 | rs121908372 | Disease: Mucolipidosi s 4 (ML4) [MIM:252650] |
61155 | Q9GZU1 (MCOLN1) | R | C | 403 | rs121908374 | Disease: Mucolipidosi s 4 (ML4) [MIM:252650] |
61156 | Q9GZU1 (MCOLN1) | V | L | 446 | rs754097561 | Disease: Mucolipidosi s 4 (ML4) [MIM:252650] |
61157 | Q9GZU1 (MCOLN1) | L | P | 447 | rs797044827 | Disease: Mucolipidosi s 4 (ML4) [MIM:252650] |
61158 | Q9GZU1 (MCOLN1) | F | L | 465 | rs797044828 | Disease: Mucolipidosi s 4 (ML4) [MIM:252650] |
61159 | Q9GZU2 (PEG3) | A | T | 235 | rs2191432 | Benign |
61160 | Q9GZU2 (PEG3) | E | G | 624 | rs36016896 | Benign |
61161 | Q9GZU2 (PEG3) | V | L | 839 | rs7251798 | Benign |
61162 | Q9GZU2 (PEG3) | N | S | 947 | rs35851866 | Benign |
61163 | Q9GZU2 (PEG3) | D | G | 983 | rs10412932 | Benign |
61164 | Q9GZU2 (PEG3) | A | V | 1456 | rs34831553 | Benign |
61165 | Q9GZU2 (PEG3) | R | H | 1576 | rs34051133 | Benign |
61166 | Q9GZU2 (PEG3) | R | L | 1576 | rs34051133 | Benign |
61167 | Q9GZU5 (NYX) | C | S | 31 | rs62637020 | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61168 | Q9GZU5 (NYX) | A | P | 143 | rs62637023 | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61169 | Q9GZU5 (NYX) | P | L | 151 | rs62637024 | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61170 | Q9GZU5 (NYX) | P | R | 175 | rs62637025 | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61171 | Q9GZU5 (NYX) | L | P | 184 | rs62637026 | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61172 | Q9GZU5 (NYX) | A | K | 187 | rs62637027 | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61173 | Q9GZU5 (NYX) | L | Q | 213 | rs62637028 | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61174 | Q9GZU5 (NYX) | N | S | 216 | - | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61175 | Q9GZU5 (NYX) | L | P | 232 | rs62637030 | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61176 | Q9GZU5 (NYX) | N | K | 264 | rs62637032 | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61177 | Q9GZU5 (NYX) | L | P | 285 | rs62637033 | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61178 | Q9GZU5 (NYX) | F | S | 298 | rs62637034 | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61179 | Q9GZU5 (NYX) | L | P | 307 | - | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61180 | Q9GZU5 (NYX) | N | S | 312 | rs62637035 | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61181 | Q9GZU5 (NYX) | L | P | 347 | rs62637036 | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61182 | Q9GZU5 (NYX) | G | V | 370 | rs62637038 | Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
61183 | Q9GZU5 (NYX) | A | G | 406 | rs34169326 | Benign |
61184 | Q9GZU7 (CTDSP1) | A | T | 56 | rs2227249 | Benign |
61185 | Q9GZV1 (ANKRD2) | A | T | 62 | rs7094973 | Benign |
61186 | Q9GZV3 (SLC5A7) | D | G | 48 | rs886039768 | Disease: Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] |
61187 | Q9GZV3 (SLC5A7) | G | E | 65 | rs886039765 | Disease: Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] |
61188 | Q9GZV3 (SLC5A7) | I | V | 89 | rs1013940 | Benign |
61189 | Q9GZV3 (SLC5A7) | P | S | 105 | rs886039766 | Disease: Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] |
61190 | Q9GZV3 (SLC5A7) | Y | H | 111 | - | Disease: Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] |
61191 | Q9GZV3 (SLC5A7) | R | Q | 361 | rs147656110 | Disease: Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] |
61192 | Q9GZV3 (SLC5A7) | R | G | 446 | - | Disease: Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143] |
61193 | Q9GZV4 (EIF5A2) | E | D | 42 | rs776545602 | Benign |
61194 | Q9GZV8 (PRDM14) | K | E | 244 | rs3750228 | Benign |
61195 | Q9GZV9 (FGF23) | S | G | 71 | rs104894342 | Disease: Tumoral calcinosis, hyperphospha temic, familial, 2 (HFTC2) [MIM:617993] |
61196 | Q9GZV9 (FGF23) | M | T | 96 | rs104894343 | Disease: Tumoral calcinosis, hyperphospha temic, familial, 2 (HFTC2) [MIM:617993] |
61197 | Q9GZV9 (FGF23) | S | F | 129 | rs104894344 | Disease: Tumoral calcinosis, hyperphospha temic, familial, 2 (HFTC2) [MIM:617993] |
61198 | Q9GZV9 (FGF23) | F | L | 157 | rs772964687 | Disease: Tumoral calcinosis, hyperphospha temic, familial, 2 (HFTC2) [MIM:617993] |
61199 | Q9GZV9 (FGF23) | R | Q | 176 | rs104894347 | Disease: Hypophosphat emic rickets, autosomal dominant (ADHR) [MIM:193100] |
61200 | Q9GZV9 (FGF23) | R | Q | 179 | rs193922702 | Disease: Hypophosphat emic rickets, autosomal dominant (ADHR) [MIM:193100] |
61201 | Q9GZV9 (FGF23) | R | W | 179 | rs28937882 | Disease: Hypophosphat emic rickets, autosomal dominant (ADHR) [MIM:193100] |
61202 | Q9GZV9 (FGF23) | P | S | 195 | rs13312793 | Benign |
61203 | Q9GZV9 (FGF23) | T | M | 239 | rs7955866 | Benign |
61204 | Q9GZW5 (SCAND2P) | P | T | 110 | rs16974462 | Benign |
61205 | Q9GZW5 (SCAND2P) | A | T | 185 | rs698620 | Benign |
61206 | Q9GZW8 (MS4A7) | E | K | 34 | rs2233241 | Benign |
61207 | Q9GZW8 (MS4A7) | P | H | 112 | rs2233249 | Benign |
61208 | Q9GZW8 (MS4A7) | S | F | 157 | rs2233251 | Benign |
61209 | Q9GZX3 (CHST6) | L | P | 15 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61210 | Q9GZX3 (CHST6) | L | R | 22 | rs68043642 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61211 | Q9GZX3 (CHST6) | P | S | 31 | rs72547549 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61212 | Q9GZX3 (CHST6) | H | Y | 42 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61213 | Q9GZX3 (CHST6) | R | C | 50 | rs28937877 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61214 | Q9GZX3 (CHST6) | S | L | 51 | rs370335460 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61215 | Q9GZX3 (CHST6) | G | D | 52 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61216 | Q9GZX3 (CHST6) | S | L | 53 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61217 | Q9GZX3 (CHST6) | L | P | 59 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61218 | Q9GZX3 (CHST6) | N | T | 61 | rs72547548 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61219 | Q9GZX3 (CHST6) | V | L | 66 | rs72547547 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61220 | Q9GZX3 (CHST6) | Y | H | 68 | rs775742450 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61221 | Q9GZX3 (CHST6) | M | L | 70 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61222 | Q9GZX3 (CHST6) | P | S | 72 | rs377617168 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61223 | Q9GZX3 (CHST6) | V | M | 76 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61224 | Q9GZX3 (CHST6) | R | H | 93 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61225 | Q9GZX3 (CHST6) | R | P | 97 | rs72547546 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61226 | Q9GZX3 (CHST6) | S | W | 98 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61227 | Q9GZX3 (CHST6) | C | G | 102 | rs121917822 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61228 | Q9GZX3 (CHST6) | C | Y | 102 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61229 | Q9GZX3 (CHST6) | M | V | 104 | rs1158093021 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61230 | Q9GZX3 (CHST6) | F | S | 107 | rs72547545 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61231 | Q9GZX3 (CHST6) | Y | C | 110 | rs72547544 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61232 | Q9GZX3 (CHST6) | F | L | 121 | rs1265310255 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61233 | Q9GZX3 (CHST6) | Q | P | 122 | rs758105699 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61234 | Q9GZX3 (CHST6) | R | C | 127 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61235 | Q9GZX3 (CHST6) | A | V | 128 | rs72547543 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61236 | Q9GZX3 (CHST6) | S | P | 131 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61237 | Q9GZX3 (CHST6) | L | P | 152 | rs142954809 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61238 | Q9GZX3 (CHST6) | R | G | 162 | rs117435647 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61239 | Q9GZX3 (CHST6) | R | P | 166 | rs72547542 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61240 | Q9GZX3 (CHST6) | K | R | 174 | rs28937877 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61241 | Q9GZX3 (CHST6) | R | G | 177 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61242 | Q9GZX3 (CHST6) | R | H | 177 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61243 | Q9GZX3 (CHST6) | P | R | 186 | rs376162109 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61244 | Q9GZX3 (CHST6) | V | E | 198 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61245 | Q9GZX3 (CHST6) | L | R | 200 | rs28937879 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61246 | Q9GZX3 (CHST6) | R | S | 202 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61247 | Q9GZX3 (CHST6) | D | E | 203 | rs28937878 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61248 | Q9GZX3 (CHST6) | P | Q | 204 | rs759870075 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61249 | Q9GZX3 (CHST6) | R | L | 205 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61250 | Q9GZX3 (CHST6) | R | Q | 205 | rs377706989 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61251 | Q9GZX3 (CHST6) | R | W | 205 | rs750219546 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61252 | Q9GZX3 (CHST6) | A | T | 206 | rs374493344 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61253 | Q9GZX3 (CHST6) | A | V | 206 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61254 | Q9GZX3 (CHST6) | S | F | 210 | rs745571211 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61255 | Q9GZX3 (CHST6) | R | Q | 211 | rs771397083 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61256 | Q9GZX3 (CHST6) | R | W | 211 | rs202175444 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61257 | Q9GZX3 (CHST6) | A | T | 217 | rs752785520 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61258 | Q9GZX3 (CHST6) | D | E | 221 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61259 | Q9GZX3 (CHST6) | D | Y | 221 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61260 | Q9GZX3 (CHST6) | H | P | 249 | rs72547540 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61261 | Q9GZX3 (CHST6) | Y | C | 268 | rs72547539 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61262 | Q9GZX3 (CHST6) | E | K | 274 | rs72547538 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61263 | Q9GZX3 (CHST6) | L | P | 276 | rs121917824 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61264 | Q9GZX3 (CHST6) | Y | D | 358 | - | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61265 | Q9GZX3 (CHST6) | Y | H | 358 | rs1384294258 | Disease: Macular dystrophy, corneal (MCD) [MIM:217800] |
61266 | Q9GZX3 (CHST6) | N | D | 369 | rs35036798 | Benign |
61267 | Q9GZX5 (ZNF350) | M | I | 37 | rs4987241 | Benign |
61268 | Q9GZX5 (ZNF350) | L | P | 66 | rs2278420 | Benign |
61269 | Q9GZX5 (ZNF350) | I | T | 69 | rs4987042 | Benign |
61270 | Q9GZX5 (ZNF350) | R | C | 132 | rs28997584 | Benign |
61271 | Q9GZX5 (ZNF350) | E | K | 406 | rs3764539 | Benign |
61272 | Q9GZX5 (ZNF350) | S | P | 472 | rs4986771 | Benign |
61273 | Q9GZX5 (ZNF350) | R | S | 501 | rs2278415 | Benign |
61274 | Q9GZX5 (ZNF350) | V | I | 524 | rs4988337 | Benign |
61275 | Q9GZX6 (IL22) | S | G | 158 | rs2227507 | Benign |
61276 | Q9GZX7 (AICDA) | F | L | 15 | - | Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258] |
61277 | Q9GZX7 (AICDA) | R | W | 24 | rs104894324 | Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258] |
61278 | Q9GZX7 (AICDA) | R | C | 25 | rs1404944797 | Benign |
61279 | Q9GZX7 (AICDA) | Y | H | 31 | - | Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258] |
61280 | Q9GZX7 (AICDA) | W | R | 80 | rs104894320 | Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258] |
61281 | Q9GZX7 (AICDA) | L | P | 106 | rs104894321 | Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258] |
61282 | Q9GZX7 (AICDA) | H | P | 130 | - | Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258] |
61283 | Q9GZX7 (AICDA) | M | V | 139 | rs104894322 | Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258] |
61284 | Q9GZX7 (AICDA) | F | S | 151 | rs104894327 | Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258] |
61285 | Q9GZY1 (PBOV1) | I | T | 73 | rs6927706 | Benign |
61286 | Q9GZY8 (MFF) | S | C | 7 | rs3211097 | Benign |
61287 | Q9GZY8 (MFF) | S | I | 7 | rs3211098 | Benign |
61288 | Q9GZZ0 (HOXD1) | A | T | 296 | rs6710142 | Benign |
61289 | Q9GZZ6 (CHRNA10) | E | A | 355 | rs2231547 | Benign |
61290 | Q9GZZ9 (UBA5) | R | H | 55 | rs774318611 | Disease: Epileptic encephalopat hy, early infantile, 44 (EIEE44) [MIM:617132] |
61291 | Q9GZZ9 (UBA5) | M | V | 57 | rs532178791 | Disease: Epileptic encephalopat hy, early infantile, 44 (EIEE44) [MIM:617132] |
61292 | Q9GZZ9 (UBA5) | G | E | 168 | rs886039761 | Disease: Epileptic encephalopat hy, early infantile, 44 (EIEE44) [MIM:617132] |
61293 | Q9GZZ9 (UBA5) | V | M | 260 | rs886039759 | Disease: Epileptic encephalopat hy, early infantile, 44 (EIEE44) [MIM:617132] |
61294 | Q9GZZ9 (UBA5) | K | E | 310 | rs886039762 | Disease: Spinocerebel lar ataxia, autosomal recessive, 24 (SCAR24) [MIM:617133] |
61295 | Q9GZZ9 (UBA5) | A | T | 371 | rs114925667 | Disease: Epileptic encephalopat hy, early infantile, 44 (EIEE44) [MIM:617132] |
61296 | Q9GZZ9 (UBA5) | D | Y | 389 | rs886039760 | Disease: Epileptic encephalopat hy, early infantile, 44 (EIEE44) [MIM:617132] |
61297 | Q9H000 (MKRN2) | R | Q | 388 | rs5746260 | Benign |
61298 | Q9H008 (LHPP) | Q | R | 94 | rs6597801 | Benign |
61299 | Q9H009 (NACA2) | V | I | 64 | rs17531723 | Benign |
61300 | Q9H013 (ADAM19) | G | S | 4 | rs11465228 | Benign |
61301 | Q9H015 (SLC22A4) | I | T | 306 | rs272893 | Benign |
61302 | Q9H015 (SLC22A4) | G | E | 462 | rs4646201 | Benign |
61303 | Q9H015 (SLC22A4) | L | F | 503 | rs1050152 | Benign |
61304 | Q9H019 (MTFR1L) | P | S | 58 | rs35448678 | Benign |
61305 | Q9H040 (SPRTN) | Y | C | 117 | rs527236213 | Disease: Ruijs-Aalfs syndrome (RJALS) [MIM:616200] |
61306 | Q9H040 (SPRTN) | P | L | 296 | rs2437150 | Benign |
61307 | Q9H061 (TMEM126A) | R | H | 64 | rs11556797 | Benign |
61308 | Q9H063 (MAF1) | G | R | 236 | rs11546144 | Benign |
61309 | Q9H069 (DRC3) | R | Q | 159 | rs8072048 | Benign |
61310 | Q9H069 (DRC3) | R | W | 191 | rs4584886 | Benign |
61311 | Q9H069 (DRC3) | A | V | 364 | rs11656629 | Benign |
61312 | Q9H078 (CLPB) | T | M | 268 | rs200032855 | Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271] |
61313 | Q9H078 (CLPB) | Y | C | 272 | rs777313457 | Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271] |
61314 | Q9H078 (CLPB) | R | T | 295 | rs7938203 | Benign |
61315 | Q9H078 (CLPB) | R | G | 408 | rs144078282 | Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271] |
61316 | Q9H078 (CLPB) | M | I | 411 | rs786205137 | Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271] |
61317 | Q9H078 (CLPB) | C | R | 486 | rs886041118 | Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271] |
61318 | Q9H078 (CLPB) | E | K | 501 | rs748915609 | Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271] |
61319 | Q9H078 (CLPB) | Y | C | 567 | rs150857620 | Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271] |
61320 | Q9H078 (CLPB) | A | V | 591 | rs748010262 | Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271] |
61321 | Q9H078 (CLPB) | Y | C | 617 | rs786205138 | Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271] |
61322 | Q9H078 (CLPB) | G | V | 646 | rs759500860 | Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271] |
61323 | Q9H078 (CLPB) | I | N | 682 | rs886041120 | Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271] |
61324 | Q9H081 (MIS12) | M | V | 21 | rs16954781 | Benign |
61325 | Q9H082 (RAB33B) | K | Q | 46 | rs587776958 | Disease: Smith-McCort dysplasia 2 (SMC2) [MIM:615222] |
61326 | Q9H082 (RAB33B) | N | K | 148 | rs886044716 | Disease: Smith-McCort dysplasia 2 (SMC2) [MIM:615222] |
61327 | Q9H089 (LSG1) | L | P | 92 | rs34423045 | Benign |
61328 | Q9H089 (LSG1) | K | E | 267 | rs1675953 | Benign |
61329 | Q9H091 (ZMYND15) | R | H | 401 | rs35005394 | Benign |
61330 | Q9H093 (NUAK2) | T | S | 309 | rs55745939 | Benign |
61331 | Q9H093 (NUAK2) | R | L | 341 | rs35208615 | Benign |
61332 | Q9H093 (NUAK2) | A | V | 516 | rs35070935 | Benign |
61333 | Q9H094 (NBPF3) | Y | C | 114 | rs1827293 | Benign |
61334 | Q9H094 (NBPF3) | R | Q | 198 | rs16825377 | Benign |
61335 | Q9H094 (NBPF3) | D | E | 444 | rs12043777 | Benign |
61336 | Q9H094 (NBPF3) | L | V | 459 | rs12034222 | Benign |
61337 | Q9H095 (IQCG) | A | D | 112 | rs9880989 | Benign |
61338 | Q9H0A0 (NAT10) | Y | H | 461 | rs2957516 | Benign |
61339 | Q9H0A0 (NAT10) | A | T | 983 | rs36006049 | Benign |
61340 | Q9H0A6 (RNF32) | R | Q | 288 | rs2302148 | Benign |
61341 | Q9H0A6 (RNF32) | H | Q | 291 | rs2302147 | Benign |
61342 | Q9H0A6 (RNF32) | R | C | 307 | rs2302146 | Benign |
61343 | Q9H0A9 (SPATC1L) | P | L | 113 | rs884134 | Benign |
61344 | Q9H0A9 (SPATC1L) | S | N | 298 | rs14378 | Benign |
61345 | Q9H0B3 (IQCN) | L | P | 44 | rs1469023 | Benign |
61346 | Q9H0B3 (IQCN) | A | V | 50 | rs3810431 | Benign |
61347 | Q9H0B3 (IQCN) | C | R | 197 | rs12609001 | Benign |
61348 | Q9H0B3 (IQCN) | L | V | 235 | rs8103906 | Benign |
61349 | Q9H0B3 (IQCN) | S | T | 285 | rs8104533 | Benign |
61350 | Q9H0B3 (IQCN) | M | T | 359 | rs3746186 | Benign |
61351 | Q9H0B3 (IQCN) | T | A | 524 | rs12462974 | Benign |
61352 | Q9H0B3 (IQCN) | T | P | 610 | rs2277922 | Benign |
61353 | Q9H0B3 (IQCN) | A | V | 614 | rs16982285 | Benign |
61354 | Q9H0B3 (IQCN) | Y | F | 648 | rs8110972 | Benign |
61355 | Q9H0B3 (IQCN) | P | R | 823 | rs12608777 | Benign |
61356 | Q9H0B3 (IQCN) | P | L | 835 | rs2277921 | Benign |
61357 | Q9H0B3 (IQCN) | P | H | 908 | rs999813 | Benign |
61358 | Q9H0B6 (KLC2) | P | S | 517 | rs2276036 | Benign |
61359 | Q9H0B8 (CRISPLD2) | S | G | 105 | rs12051468 | Benign |
61360 | Q9H0B8 (CRISPLD2) | D | G | 137 | rs1297496215 | Benign |
61361 | Q9H0B8 (CRISPLD2) | T | S | 322 | rs721005 | Benign |
61362 | Q9H0C1 (ZMYND12) | F | L | 316 | rs1034268 | Benign |
61363 | Q9H0C2 (SLC25A31) | K | E | 303 | - | Benign |
61364 | Q9H0C3 (TMEM117) | R | H | 90 | rs1948516 | Benign |
61365 | Q9H0C8 (ILKAP) | I | M | 66 | rs34371548 | Benign |
61366 | Q9H0D2 (ZNF541) | P | S | 486 | rs3810320 | Benign |
61367 | Q9H0D2 (ZNF541) | K | E | 791 | rs34984302 | Benign |
61368 | Q9H0D2 (ZNF541) | T | S | 795 | rs3826835 | Benign |
61369 | Q9H0D6 (XRN2) | R | M | 743 | rs6137324 | Benign |
61370 | Q9H0D6 (XRN2) | R | C | 925 | rs6047420 | Benign |
61371 | Q9H0E2 (TOLLIP) | D | N | 161 | rs1037270334 | Benign |
61372 | Q9H0E2 (TOLLIP) | A | S | 222 | rs5744015 | Benign |
61373 | Q9H0E7 (USP44) | T | A | 91 | rs3812813 | Benign |
61374 | Q9H0E7 (USP44) | E | Q | 316 | rs7305024 | Benign |
61375 | Q9H0E7 (USP44) | R | G | 348 | rs7135642 | Benign |
61376 | Q9H0E9 (BRD8) | T | M | 490 | rs11750814 | Benign |
61377 | Q9H0E9 (BRD8) | L | P | 896 | rs6883021 | Benign |
61378 | Q9H0E9 (BRD8) | Q | R | 1198 | rs412051 | Benign |
61379 | Q9H0F5 (RNF38) | A | T | 206 | rs183475137 | Benign |
61380 | Q9H0F6 (SHARPIN) | S | T | 282 | rs11541804 | Benign |
61381 | Q9H0F6 (SHARPIN) | P | S | 294 | rs34674752 | Benign |
61382 | Q9H0F6 (SHARPIN) | P | R | 311 | rs35844464 | Benign |
61383 | Q9H0F7 (ARL6) | T | M | 31 | rs104893680 | Disease: Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] |
61384 | Q9H0F7 (ARL6) | T | R | 31 | rs104893680 | Disease: Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] |
61385 | Q9H0F7 (ARL6) | A | V | 89 | rs587777805 | Disease: Retinitis pigmentosa 55 (RP55) [MIM:613575] |
61386 | Q9H0F7 (ARL6) | I | T | 94 | rs771054395 | Disease: Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] |
61387 | Q9H0F7 (ARL6) | G | A | 169 | rs104893679 | Disease: Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] |
61388 | Q9H0F7 (ARL6) | L | W | 170 | rs104893681 | Disease: Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] |
61389 | Q9H0G5 (NSRP1) | K | T | 86 | rs11544945 | Benign |
61390 | Q9H0H0 (INTS2) | N | H | 768 | rs606072 | Benign |
61391 | Q9H0H3 (KLHL25) | V | I | 250 | rs35582838 | Benign |
61392 | Q9H0H3 (KLHL25) | M | L | 257 | rs36031133 | Benign |
61393 | Q9H0I3 (CCDC113) | D | E | 4 | rs8043587 | Benign |
61394 | Q9H0I3 (CCDC113) | S | T | 6 | rs8043590 | Benign |
61395 | Q9H0I9 (TKTL2) | R | Q | 442 | rs3811750 | Benign |
61396 | Q9H0I9 (TKTL2) | Q | H | 590 | rs11735477 | Benign |
61397 | Q9H0J4 (QRICH2) | L | S | 202 | rs6501880 | Benign |
61398 | Q9H0J4 (QRICH2) | I | T | 630 | rs6501878 | Benign |
61399 | Q9H0J4 (QRICH2) | I | V | 630 | rs6501879 | Benign |
61400 | Q9H0J4 (QRICH2) | V | D | 681 | rs6501874 | Benign |
61401 | Q9H0J4 (QRICH2) | H | Y | 906 | rs2279054 | Benign |
61402 | Q9H0J4 (QRICH2) | H | R | 974 | rs2279053 | Benign |
61403 | Q9H0J4 (QRICH2) | E | Q | 1036 | rs2279052 | Benign |
61404 | Q9H0J9 (PARP12) | V | I | 293 | rs34111764 | Benign |
61405 | Q9H0J9 (PARP12) | V | M | 463 | rs35456446 | Benign |
61406 | Q9H0J9 (PARP12) | A | V | 620 | rs17161356 | Benign |
61407 | Q9H0K1 (SIK2) | T | I | 458 | rs35789057 | Benign |
61408 | Q9H0K1 (SIK2) | R | Q | 809 | rs34223841 | Benign |
61409 | Q9H0K1 (SIK2) | P | L | 825 | rs55889697 | Benign |
61410 | Q9H0K1 (SIK2) | P | L | 828 | rs45520245 | Benign |
61411 | Q9H0K1 (SIK2) | P | S | 829 | rs45586732 | Benign |
61412 | Q9H0K4 (RSPH6A) | A | V | 50 | rs12459916 | Benign |
61413 | Q9H0K6 (PUS7L) | I | M | 92 | rs33999797 | Benign |
61414 | Q9H0K6 (PUS7L) | K | E | 264 | rs1057190 | Benign |
61415 | Q9H0K6 (PUS7L) | I | V | 343 | rs34668377 | Benign |
61416 | Q9H0M4 (ZCWPW1) | T | A | 153 | rs6465770 | Benign |
61417 | Q9H0M4 (ZCWPW1) | E | K | 365 | rs6970350 | Benign |
61418 | Q9H0M5 (ZNF700) | E | G | 269 | rs12327617 | Benign |
61419 | Q9H0M5 (ZNF700) | L | V | 321 | rs17001730 | Benign |
61420 | Q9H0N0 (RAB6C) | A | T | 159 | rs4662674 | Benign |
61421 | Q9H0P0 (NT5C3A) | R | G | 95 | rs766577643 | Disease: P5N deficiency (P5ND) [MIM:266120] |
61422 | Q9H0P0 (NT5C3A) | C | R | 113 | - | Disease: P5N deficiency (P5ND) [MIM:266120] |
61423 | Q9H0P0 (NT5C3A) | D | V | 137 | rs104894025 | Disease: P5N deficiency (P5ND) [MIM:266120] |
61424 | Q9H0P0 (NT5C3A) | L | P | 181 | - | Disease: P5N deficiency (P5ND) [MIM:266120] |
61425 | Q9H0P0 (NT5C3A) | G | R | 207 | - | Disease: P5N deficiency (P5ND) [MIM:266120] |
61426 | Q9H0P0 (NT5C3A) | N | S | 229 | rs104894028 | Disease: P5N deficiency (P5ND) [MIM:266120] |
61427 | Q9H0P0 (NT5C3A) | G | R | 280 | rs104894029 | Disease: P5N deficiency (P5ND) [MIM:266120] |
61428 | Q9H0P0 (NT5C3A) | I | T | 297 | - | Disease: P5N deficiency (P5ND) [MIM:266120] |
61429 | Q9H0R1 (AP5M1) | G | R | 226 | rs10137359 | Benign |
61430 | Q9H0R1 (AP5M1) | E | D | 379 | rs10140245 | Benign |
61431 | Q9H0R4 (HDHD2) | R | Q | 85 | rs7230131 | Benign |
61432 | Q9H0R5 (GBP3) | R | Q | 221 | rs4656078 | Benign |
61433 | Q9H0R5 (GBP3) | R | W | 225 | rs4656077 | Benign |
61434 | Q9H0R5 (GBP3) | T | S | 347 | rs3188433 | Benign |
61435 | Q9H0R5 (GBP3) | V | M | 469 | rs10493821 | Benign |
61436 | Q9H0R5 (GBP3) | C | R | 491 | rs17433780 | Benign |
61437 | Q9H0R5 (GBP3) | V | A | 558 | rs11808228 | Benign |
61438 | Q9H0R6 (QRSL1) | A | V | 11 | rs36016898 | Benign |
61439 | Q9H0R6 (QRSL1) | G | E | 117 | - | Disease: - |
61440 | Q9H0R6 (QRSL1) | G | V | 133 | - | Disease: - |
61441 | Q9H0R6 (QRSL1) | N | S | 263 | rs34221917 | Benign |
61442 | Q9H0T7 (RAB17) | V | A | 19 | rs3751112 | Benign |
61443 | Q9H0T7 (RAB17) | S | G | 184 | rs34311889 | Benign |
61444 | Q9H0T7 (RAB17) | L | P | 191 | rs2280289 | Benign |
61445 | Q9H0U3 (MAGT1) | K | N | 324 | - | Disease: Congenital disorder of glycosylatio n 1CC (CDG1CC) [MIM:301031] |
61446 | Q9H0U6 (MRPL18) | R | Q | 6 | rs1128670 | Benign |
61447 | Q9H0U9 (TSPYL1) | P | S | 62 | rs3828743 | Benign |
61448 | Q9H0U9 (TSPYL1) | A | P | 74 | rs3749895 | Benign |
61449 | Q9H0U9 (TSPYL1) | A | T | 181 | rs3749894 | Benign |
61450 | Q9H0V9 (LMAN2L) | R | Q | 53 | rs869320632 | Disease: Mental retardation, autosomal recessive 52 (MRT52) [MIM:616887] |
61451 | Q9H0W5 (CCDC8) | G | R | 296 | rs11880658 | Benign |
61452 | Q9H0W5 (CCDC8) | H | Y | 383 | rs34186470 | Benign |
61453 | Q9H0W5 (CCDC8) | K | N | 507 | rs2279517 | Benign |
61454 | Q9H0W7 (THAP2) | T | M | 170 | rs17110155 | Benign |
61455 | Q9H0X9 (OSBPL5) | T | I | 90 | rs6578323 | Benign |
61456 | Q9H0X9 (OSBPL5) | A | T | 774 | rs2277301 | Benign |
61457 | Q9H0Y0 (ATG10) | S | P | 62 | rs3734114 | Benign |
61458 | Q9H0Y0 (ATG10) | T | M | 212 | rs1864183 | Benign |
61459 | Q9H0Y0 (ATG10) | P | H | 220 | rs1864182 | Benign |
61460 | Q9H0Z9 (RBM38) | A | V | 178 | rs1065288 | Benign |
61461 | Q9H0Z9 (RBM38) | A | D | 200 | rs1065289 | Benign |
61462 | Q9H0Z9 (RBM38) | P | H | 212 | rs1065290 | Benign |
61463 | Q9H0Z9 (RBM38) | V | L | 226 | rs16980970 | Benign |
61464 | Q9H106 (SIRPD) | N | D | 55 | rs2249317 | Benign |
61465 | Q9H114 (CSTL1) | T | A | 59 | rs7361799 | Benign |
61466 | Q9H114 (CSTL1) | Y | F | 62 | rs16985357 | Benign |
61467 | Q9H114 (CSTL1) | R | K | 66 | rs17757442 | Benign |
61468 | Q9H114 (CSTL1) | W | R | 88 | rs3746736 | Benign |
61469 | Q9H114 (CSTL1) | T | M | 96 | rs3746737 | Benign |
61470 | Q9H115 (NAPB) | A | T | 61 | rs6036399 | Benign |
61471 | Q9H116 (GZF1) | N | S | 190 | rs3810574 | Benign |
61472 | Q9H116 (GZF1) | Q | L | 275 | rs6048760 | Benign |
61473 | Q9H116 (GZF1) | Q | P | 275 | rs6048760 | Benign |
61474 | Q9H116 (GZF1) | Q | R | 275 | rs6048760 | Benign |
61475 | Q9H116 (GZF1) | K | N | 318 | rs6114068 | Benign |
61476 | Q9H116 (GZF1) | D | N | 667 | rs6048766 | Benign |
61477 | Q9H147 (DNTTIP1) | A | T | 183 | rs408911 | Benign |
61478 | Q9H156 (SLITRK2) | S | P | 601 | rs2295336 | Benign |
61479 | Q9H158 (PCDHAC1) | L | V | 498 | rs246074 | Benign |
61480 | Q9H161 (ALX4) | V | F | 7 | rs281865153 | Disease: Craniosynost osis 5 (CRS5) [MIM:615529] |
61481 | Q9H161 (ALX4) | R | T | 35 | rs3824915 | Benign |
61482 | Q9H161 (ALX4) | P | S | 102 | rs12421995 | Benign |
61483 | Q9H161 (ALX4) | K | E | 211 | rs281865154 | Disease: Craniosynost osis 5 (CRS5) [MIM:615529] |
61484 | Q9H161 (ALX4) | R | Q | 218 | rs104894193 | Disease: Parietal foramina 2 (PFM2) [MIM:609597] |
61485 | Q9H161 (ALX4) | R | T | 257 | rs3824915 | Benign |
61486 | Q9H161 (ALX4) | R | P | 272 | rs104894196 | Disease: Parietal foramina 2 (PFM2) [MIM:609597] |
61487 | Q9H161 (ALX4) | P | L | 306 | rs149897209 | Benign |
61488 | Q9H165 (BCL11A) | T | P | 47 | rs886037864 | Disease: Intellectual developmenta l disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101] |
61489 | Q9H165 (BCL11A) | C | F | 48 | rs886037865 | Disease: Intellectual developmenta l disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101] |
61490 | Q9H165 (BCL11A) | H | Q | 66 | rs886037866 | Disease: Intellectual developmenta l disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101] |
61491 | Q9H171 (ZBP1) | R | I | 17 | rs35813125 | Benign |
61492 | Q9H171 (ZBP1) | K | R | 53 | rs35895307 | Benign |
61493 | Q9H171 (ZBP1) | G | R | 70 | rs34964609 | Benign |
61494 | Q9H171 (ZBP1) | E | K | 88 | rs2073145 | Benign |
61495 | Q9H171 (ZBP1) | D | H | 154 | rs16981187 | Benign |
61496 | Q9H171 (ZBP1) | R | H | 166 | rs34478944 | Benign |
61497 | Q9H171 (ZBP1) | Q | R | 258 | rs2865394 | Benign |
61498 | Q9H171 (ZBP1) | A | V | 332 | rs41275648 | Benign |
61499 | Q9H172 (ABCG4) | P | L | 352 | rs35060365 | Benign |
61500 | Q9H173 (SIL1) | Q | R | 80 | rs35581768 | Benign |
61501 | Q9H175 (CSRNP2) | T | M | 436 | rs11542510 | Benign |
61502 | Q9H190 (SDCBP2) | V | M | 182 | rs2273959 | Benign |
61503 | Q9H190 (SDCBP2) | R | C | 223 | rs1048621 | Benign |
61504 | Q9H190 (SDCBP2) | G | R | 242 | rs4814111 | Benign |
61505 | Q9H195 (MUC3B) | A | V | 1034 | - | Benign |
61506 | Q9H195 (MUC3B) | H | Y | 1213 | - | Benign |
61507 | Q9H1B5 (XYLT2) | D | N | 56 | rs113835371 | Benign |
61508 | Q9H1B5 (XYLT2) | G | R | 60 | rs739990 | Benign |
61509 | Q9H1B5 (XYLT2) | P | L | 115 | rs748114111 | Benign |
61510 | Q9H1B5 (XYLT2) | R | T | 305 | rs12451299 | Benign |
61511 | Q9H1B5 (XYLT2) | P | L | 418 | rs72832454 | Benign |
61512 | Q9H1B5 (XYLT2) | T | R | 801 | rs6504649 | Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800] |
61513 | Q9H1B7 (IRF2BPL) | K | N | 418 | - | Disease: Neurodevelop mental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS) [MIM:618088] |
61514 | Q9H1C3 (GLT8D2) | A | T | 37 | rs17035120 | Benign |
61515 | Q9H1C4 (UNC93B1) | Y | C | 436 | rs3175471 | Benign |
61516 | Q9H1C7 (CYSTM1) | C | S | 90 | rs17852164 | Benign |
61517 | Q9H1D0 (TRPV6) | A | S | 18 | - | Benign |
61518 | Q9H1D0 (TRPV6) | C | R | 197 | rs4987657 | Benign |
61519 | Q9H1D0 (TRPV6) | C | Y | 212 | - | Disease: Hyperparathy roidism, transient neonatal (HRPTTN) [MIM:618188] |
61520 | Q9H1D0 (TRPV6) | I | T | 223 | - | Disease: Hyperparathy roidism, transient neonatal (HRPTTN) [MIM:618188] |
61521 | Q9H1D0 (TRPV6) | R | Q | 399 | rs4987665 | Benign |
61522 | Q9H1D0 (TRPV6) | M | V | 418 | rs4987667 | Benign |
61523 | Q9H1D0 (TRPV6) | R | Q | 425 | - | Disease: Hyperparathy roidism, transient neonatal (HRPTTN) [MIM:618188] |
61524 | Q9H1D0 (TRPV6) | G | R | 428 | - | Disease: Hyperparathy roidism, transient neonatal (HRPTTN) [MIM:618188] |
61525 | Q9H1D0 (TRPV6) | G | E | 451 | - | Disease: Hyperparathy roidism, transient neonatal (HRPTTN) [MIM:618188] |
61526 | Q9H1D0 (TRPV6) | R | W | 483 | - | Disease: Hyperparathy roidism, transient neonatal (HRPTTN) [MIM:618188] |
61527 | Q9H1D0 (TRPV6) | M | T | 721 | rs4987682 | Benign |
61528 | Q9H1E1 (RNASE7) | A | P | 103 | rs1263872 | Benign |
61529 | Q9H1E1 (RNASE7) | H | Y | 116 | rs1243469 | Benign |
61530 | Q9H1E3 (NUCKS1) | E | G | 119 | rs3207505 | Benign |
61531 | Q9H1E3 (NUCKS1) | L | P | 137 | rs17355035 | Benign |
61532 | Q9H1E5 (TMX4) | Y | C | 215 | rs1135711 | Benign |
61533 | Q9H1E5 (TMX4) | G | R | 303 | rs2076015 | Benign |
61534 | Q9H1H1 (GTSF1L) | L | V | 56 | rs17826038 | Benign |
61535 | Q9H1H9 (KIF13A) | M | V | 1415 | rs17689215 | Benign |
61536 | Q9H1H9 (KIF13A) | F | S | 1600 | rs12211658 | Benign |
61537 | Q9H1I8 (ASCC2) | R | C | 96 | rs1894473 | Benign |
61538 | Q9H1I8 (ASCC2) | V | I | 123 | rs11549795 | Benign |
61539 | Q9H1I8 (ASCC2) | D | H | 407 | rs28265 | Benign |
61540 | Q9H1I8 (ASCC2) | P | S | 423 | rs36571 | Benign |
61541 | Q9H1I8 (ASCC2) | R | Q | 509 | rs4823054 | Benign |
61542 | Q9H1I8 (ASCC2) | D | G | 546 | rs34833047 | Benign |
61543 | Q9H1I8 (ASCC2) | E | K | 588 | rs34062345 | Benign |
61544 | Q9H1I8 (ASCC2) | R | L | 639 | rs6006259 | Benign |
61545 | Q9H1J1 (UPF3A) | R | K | 64 | rs3752105 | Benign |
61546 | Q9H1K0 (RBSN) | L | P | 591 | rs9868848 | Benign |
61547 | Q9H1K0 (RBSN) | T | A | 641 | rs9851219 | Benign |
61548 | Q9H1K0 (RBSN) | M | I | 722 | rs9830744 | Benign |
61549 | Q9H1K1 (ISCU) | A | V | 12 | rs2287555 | Benign |
61550 | Q9H1L0 (MIR1-1HG) | V | A | 27 | rs6062251 | Benign |
61551 | Q9H1M0 (NUP62CL) | F | L | 54 | rs16987290 | Benign |
61552 | Q9H1M0 (NUP62CL) | I | T | 177 | rs1298577 | Benign |
61553 | Q9H1M3 (DEFB129) | T | S | 149 | rs1053783 | Benign |
61554 | Q9H1M4 (DEFB127) | G | R | 31 | rs12624954 | Benign |
61555 | Q9H1M4 (DEFB127) | R | S | 71 | rs16995685 | Benign |
61556 | Q9H1P6 (C20orf85) | R | H | 26 | rs16984945 | Benign |
61557 | Q9H1P6 (C20orf85) | R | Q | 34 | rs45576936 | Benign |
61558 | Q9H1P6 (C20orf85) | I | V | 99 | rs17440813 | Benign |
61559 | Q9H1Q7 (PCED1A) | Q | H | 22 | rs2274670 | Benign |
61560 | Q9H1R3 (MYLK2) | A | V | 87 | rs121908107 | Disease: Cardiomyopat hy, familial hypertrophic (CMH) [MIM:192600] |
61561 | Q9H1R3 (MYLK2) | A | E | 95 | rs121908108 | Disease: Cardiomyopat hy, familial hypertrophic (CMH) [MIM:192600] |
61562 | Q9H1R3 (MYLK2) | G | V | 142 | rs56385445 | Benign |
61563 | Q9H1R3 (MYLK2) | P | A | 144 | rs34396614 | Benign |
61564 | Q9H1R3 (MYLK2) | K | N | 324 | rs34146416 | Benign |
61565 | Q9H1V8 (SLC6A17) | A | T | 57 | rs12737742 | Benign |
61566 | Q9H1V8 (SLC6A17) | G | R | 162 | rs775085213 | Disease: Mental retardation, autosomal recessive 48 (MRT48) [MIM:616269] |
61567 | Q9H1V8 (SLC6A17) | P | R | 633 | rs375380880 | Disease: Mental retardation, autosomal recessive 48 (MRT48) [MIM:616269] |
61568 | Q9H1X1 (RSPH9) | V | I | 261 | rs16896629 | Benign |
61569 | Q9H1Y0 (ATG5) | E | D | 122 | rs1131692265 | Disease: Spinocerebel lar ataxia, autosomal recessive, 25 (SCAR25) [MIM:617584] |
61570 | Q9H1Y3 (OPN3) | A | V | 167 | rs12072790 | Benign |
61571 | Q9H1Y3 (OPN3) | V | I | 183 | rs2273712 | Benign |
61572 | Q9H1Z4 (WDR13) | H | R | 325 | rs235842 | Benign |
61573 | Q9H1Z8 (ECRG4) | A | T | 52 | rs10187689 | Benign |
61574 | Q9H1Z9 (TSPAN10) | R | H | 187 | rs34896443 | Benign |
61575 | Q9H1Z9 (TSPAN10) | Y | H | 218 | rs34379910 | Benign |
61576 | Q9H201 (EPN3) | P | T | 544 | rs4794159 | Benign |
61577 | Q9H205 (OR2AG1) | V | L | 187 | rs2659880 | Benign |
61578 | Q9H205 (OR2AG1) | R | G | 299 | rs2659879 | Benign |
61579 | Q9H205 (OR2AG1) | R | W | 299 | rs2659879 | Benign |
61580 | Q9H207 (OR10A5) | K | M | 41 | rs7949377 | Benign |
61581 | Q9H208 (OR10A2) | H | R | 43 | rs3930075 | Benign |
61582 | Q9H208 (OR10A2) | A | T | 134 | rs2741764 | Benign |
61583 | Q9H208 (OR10A2) | H | R | 207 | rs10839631 | Benign |
61584 | Q9H208 (OR10A2) | I | T | 240 | rs10839632 | Benign |
61585 | Q9H208 (OR10A2) | K | T | 258 | rs7926083 | Benign |
61586 | Q9H209 (OR10A4) | L | P | 206 | rs2595453 | Benign |
61587 | Q9H209 (OR10A4) | R | H | 221 | rs7938371 | Benign |
61588 | Q9H209 (OR10A4) | L | F | 246 | rs16919049 | Benign |
61589 | Q9H209 (OR10A4) | R | Q | 262 | rs10839635 | Benign |
61590 | Q9H210 (OR2D2) | H | Y | 84 | rs57896484 | Benign |
61591 | Q9H210 (OR2D2) | S | P | 148 | rs1965209 | Benign |
61592 | Q9H210 (OR2D2) | I | M | 163 | rs1965207 | Benign |
61593 | Q9H210 (OR2D2) | I | T | 163 | rs1965208 | Benign |
61594 | Q9H210 (OR2D2) | M | T | 202 | rs2741804 | Benign |
61595 | Q9H210 (OR2D2) | R | G | 220 | rs60116285 | Benign |
61596 | Q9H211 (CDT1) | A | T | 66 | rs387906918 | Disease: Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] |
61597 | Q9H211 (CDT1) | Q | H | 117 | rs779871947 | Disease: Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] |
61598 | Q9H211 (CDT1) | A | V | 135 | rs3218725 | Benign |
61599 | Q9H211 (CDT1) | R | C | 172 | rs3218727 | Benign |
61600 | Q9H211 (CDT1) | C | R | 234 | rs507329 | Benign |
61601 | Q9H211 (CDT1) | T | A | 262 | rs480727 | Benign |
61602 | Q9H211 (CDT1) | R | W | 453 | rs200672589 | Disease: Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] |
61603 | Q9H211 (CDT1) | E | A | 456 | rs3218729 | Benign |
61604 | Q9H211 (CDT1) | R | Q | 462 | rs387906917 | Disease: Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] |
61605 | Q9H211 (CDT1) | E | K | 468 | rs200652608 | Disease: Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] |
61606 | Q9H211 (CDT1) | A | V | 537 | rs3218721 | Benign |
61607 | Q9H221 (ABCG8) | D | H | 19 | rs11887534 | Benign |
61608 | Q9H221 (ABCG8) | Y | C | 54 | rs4148211 | Benign |
61609 | Q9H221 (ABCG8) | R | H | 184 | rs766212636 | Disease: Sitosterolem ia 1 (STSL1) [MIM:210250] |
61610 | Q9H221 (ABCG8) | V | M | 210 | rs9282574 | Benign |
61611 | Q9H221 (ABCG8) | P | T | 231 | rs137852993 | Disease: Sitosterolem ia 1 (STSL1) [MIM:210250] |
61612 | Q9H221 (ABCG8) | A | V | 259 | rs35518570 | Benign |
61613 | Q9H221 (ABCG8) | R | Q | 263 | rs137852990 | Disease: Sitosterolem ia 1 (STSL1) [MIM:210250] |
61614 | Q9H221 (ABCG8) | T | K | 400 | rs4148217 | Benign |
61615 | Q9H221 (ABCG8) | R | H | 405 | rs1177309800 | Disease: Sitosterolem ia 1 (STSL1) [MIM:210250] |
61616 | Q9H221 (ABCG8) | L | P | 501 | rs1233989408 | Disease: Sitosterolem ia 1 (STSL1) [MIM:210250] |
61617 | Q9H221 (ABCG8) | R | S | 543 | rs201690654 | Disease: Sitosterolem ia 1 (STSL1) [MIM:210250] |
61618 | Q9H221 (ABCG8) | L | P | 572 | rs769576789 | Disease: Sitosterolem ia 1 (STSL1) [MIM:210250] |
61619 | Q9H221 (ABCG8) | G | E | 574 | rs1325979386 | Disease: Sitosterolem ia 1 (STSL1) [MIM:210250] |
61620 | Q9H221 (ABCG8) | G | R | 574 | rs137852988 | Disease: Sitosterolem ia 1 (STSL1) [MIM:210250] |
61621 | Q9H221 (ABCG8) | G | R | 575 | - | Benign |
61622 | Q9H221 (ABCG8) | L | R | 596 | rs137852992 | Disease: Sitosterolem ia 1 (STSL1) [MIM:210250] |
61623 | Q9H221 (ABCG8) | V | A | 632 | rs6544718 | Benign |
61624 | Q9H221 (ABCG8) | Y | F | 641 | rs145125968 | Benign |
61625 | Q9H221 (ABCG8) | M | V | 655 | rs9282573 | Benign |
61626 | Q9H222 (ABCG5) | R | C | 50 | rs6756629 | Benign |
61627 | Q9H222 (ABCG5) | E | Q | 146 | rs758551848 | Disease: Sitosterolem ia 2 (STSL2) [MIM:618666] |
61628 | Q9H222 (ABCG5) | R | H | 389 | rs119480069 | Disease: Sitosterolem ia 2 (STSL2) [MIM:618666] |
61629 | Q9H222 (ABCG5) | R | H | 419 | rs119479067 | Disease: Sitosterolem ia 2 (STSL2) [MIM:618666] |
61630 | Q9H222 (ABCG5) | R | P | 419 | rs119479067 | Disease: Sitosterolem ia 2 (STSL2) [MIM:618666] |
61631 | Q9H222 (ABCG5) | N | K | 437 | rs575266356 | Disease: Sitosterolem ia 2 (STSL2) [MIM:618666] |
61632 | Q9H222 (ABCG5) | T | S | 517 | rs17031672 | Benign |
61633 | Q9H222 (ABCG5) | I | V | 523 | rs140899003 | Benign |
61634 | Q9H222 (ABCG5) | R | S | 550 | - | Disease: Sitosterolem ia 2 (STSL2) [MIM:618666] |
61635 | Q9H222 (ABCG5) | C | Y | 600 | rs779109455 | Benign |
61636 | Q9H222 (ABCG5) | Q | E | 604 | rs6720173 | Benign |
61637 | Q9H222 (ABCG5) | M | V | 622 | rs140374206 | Benign |
61638 | Q9H223 (EHD4) | V | I | 154 | rs11549015 | Benign |
61639 | Q9H227 (GBA3) | D | N | 106 | - | Benign |
61640 | Q9H227 (GBA3) | M | I | 172 | rs36090352 | Benign |
61641 | Q9H227 (GBA3) | R | P | 213 | rs17612341 | Benign |
61642 | Q9H227 (GBA3) | C | R | 354 | rs16873108 | Benign |
61643 | Q9H228 (S1PR5) | L | Q | 318 | rs35483143 | Benign |
61644 | Q9H237 (PORCN) | G | R | 60 | rs267606973 | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61645 | Q9H237 (PORCN) | S | F | 136 | - | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61646 | Q9H237 (PORCN) | G | R | 168 | - | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61647 | Q9H237 (PORCN) | H | Y | 252 | - | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61648 | Q9H237 (PORCN) | V | E | 258 | - | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61649 | Q9H237 (PORCN) | S | L | 297 | - | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61650 | Q9H237 (PORCN) | L | R | 331 | - | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61651 | Q9H237 (PORCN) | H | L | 341 | - | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61652 | Q9H237 (PORCN) | E | V | 361 | - | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61653 | Q9H237 (PORCN) | R | G | 365 | - | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61654 | Q9H237 (PORCN) | R | Q | 365 | - | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61655 | Q9H237 (PORCN) | A | P | 374 | - | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61656 | Q9H237 (PORCN) | C | R | 385 | - | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61657 | Q9H237 (PORCN) | C | Y | 385 | - | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61658 | Q9H237 (PORCN) | W | R | 439 | - | Disease: Focal dermal hypoplasia (FODH) [MIM:305600] |
61659 | Q9H244 (P2RY12) | H | Q | 187 | - | Disease: Bleeding disorder, platelet- type 8 (BDPLT8) [MIM:609821] |
61660 | Q9H244 (P2RY12) | R | Q | 256 | rs121917885 | Disease: Bleeding disorder, platelet- type 8 (BDPLT8) [MIM:609821] |
61661 | Q9H244 (P2RY12) | R | W | 265 | rs121917886 | Disease: Bleeding disorder, platelet- type 8 (BDPLT8) [MIM:609821] |
61662 | Q9H244 (P2RY12) | E | G | 330 | rs16846673 | Benign |
61663 | Q9H251 (CDH23) | R | C | 3 | rs7902757 | Benign |
61664 | Q9H251 (CDH23) | D | G | 124 | rs751192273 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61665 | Q9H251 (CDH23) | D | N | 160 | rs1057519500 | Benign |
61666 | Q9H251 (CDH23) | V | I | 187 | rs369624952 | Benign |
61667 | Q9H251 (CDH23) | E | Q | 192 | rs199514829 | Benign |
61668 | Q9H251 (CDH23) | P | L | 240 | rs121908354 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61669 | Q9H251 (CDH23) | E | K | 247 | - | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61670 | Q9H251 (CDH23) | R | Q | 301 | rs121908355 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61671 | Q9H251 (CDH23) | N | S | 342 | rs1451062499 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61672 | Q9H251 (CDH23) | A | S | 361 | - | Benign |
61673 | Q9H251 (CDH23) | A | T | 366 | rs143282422 | Benign |
61674 | Q9H251 (CDH23) | V | M | 424 | rs2305207 | Benign |
61675 | Q9H251 (CDH23) | D | N | 428 | rs188376296 | Benign |
61676 | Q9H251 (CDH23) | N | S | 452 | rs375646885 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61677 | Q9H251 (CDH23) | L | Q | 480 | rs767928788 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61678 | Q9H251 (CDH23) | A | P | 484 | - | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61679 | Q9H251 (CDH23) | G | A | 490 | rs1227049 | Benign |
61680 | Q9H251 (CDH23) | S | N | 496 | rs10999947 | Benign |
61681 | Q9H251 (CDH23) | R | Q | 582 | rs200263980 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61682 | Q9H251 (CDH23) | V | I | 746 | rs550384315 | Benign |
61683 | Q9H251 (CDH23) | H | Y | 755 | rs181255269 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61684 | Q9H251 (CDH23) | V | I | 803 | - | Benign |
61685 | Q9H251 (CDH23) | S | G | 944 | rs188098974 | Benign |
61686 | Q9H251 (CDH23) | E | K | 956 | rs756147087 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61687 | Q9H251 (CDH23) | E | K | 960 | rs111033458 | Benign |
61688 | Q9H251 (CDH23) | R | Q | 964 | rs376560330 | Benign |
61689 | Q9H251 (CDH23) | D | N | 990 | rs771766431 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61690 | Q9H251 (CDH23) | R | H | 1010 | rs370107953 | Benign |
61691 | Q9H251 (CDH23) | R | W | 1060 | rs201536811 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61692 | Q9H251 (CDH23) | V | I | 1090 | rs368487578 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61693 | Q9H251 (CDH23) | N | S | 1098 | rs41281310 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61694 | Q9H251 (CDH23) | G | S | 1118 | rs562052236 | Benign |
61695 | Q9H251 (CDH23) | G | D | 1186 | - | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61696 | Q9H251 (CDH23) | P | R | 1206 | - | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61697 | Q9H251 (CDH23) | T | A | 1209 | rs41281314 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61698 | Q9H251 (CDH23) | A | T | 1222 | rs41281316 | Benign |
61699 | Q9H251 (CDH23) | R | Q | 1236 | rs186990940 | Benign |
61700 | Q9H251 (CDH23) | N | S | 1282 | rs149073355 | Benign |
61701 | Q9H251 (CDH23) | V | A | 1335 | rs1364542092 | Benign |
61702 | Q9H251 (CDH23) | D | N | 1341 | rs121908351 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61703 | Q9H251 (CDH23) | R | C | 1349 | rs41281318 | Benign |
61704 | Q9H251 (CDH23) | N | D | 1351 | rs1227065 | Benign |
61705 | Q9H251 (CDH23) | T | M | 1368 | rs762247872 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61706 | Q9H251 (CDH23) | R | L | 1379 | - | Disease: Pituitary adenoma 5, multiple types (PITA5) [MIM:617540] |
61707 | Q9H251 (CDH23) | S | I | 1415 | - | Benign |
61708 | Q9H251 (CDH23) | R | W | 1417 | rs756231829 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61709 | Q9H251 (CDH23) | R | Q | 1437 | rs56181447 | Benign |
61710 | Q9H251 (CDH23) | A | G | 1443 | - | Benign |
61711 | Q9H251 (CDH23) | Q | H | 1496 | rs121908347 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61712 | Q9H251 (CDH23) | R | Q | 1507 | rs373480195 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61713 | Q9H251 (CDH23) | I | M | 1520 | - | Benign |
61714 | Q9H251 (CDH23) | M | T | 1574 | - | Benign |
61715 | Q9H251 (CDH23) | A | T | 1575 | rs1227051 | Benign |
61716 | Q9H251 (CDH23) | A | P | 1586 | rs573737471 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61717 | Q9H251 (CDH23) | R | W | 1588 | rs137937502 | Benign |
61718 | Q9H251 (CDH23) | E | K | 1595 | rs778204574 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61719 | Q9H251 (CDH23) | V | M | 1620 | rs41281330 | Benign |
61720 | Q9H251 (CDH23) | D | A | 1626 | rs1554871816 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61721 | Q9H251 (CDH23) | T | S | 1671 | rs749678546 | Benign |
61722 | Q9H251 (CDH23) | V | I | 1675 | rs17712523 | Benign |
61723 | Q9H251 (CDH23) | V | I | 1711 | rs181611778 | Benign |
61724 | Q9H251 (CDH23) | Q | P | 1716 | - | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61725 | Q9H251 (CDH23) | R | Q | 1746 | rs111033270 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61726 | Q9H251 (CDH23) | P | L | 1788 | rs564555435 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61727 | Q9H251 (CDH23) | R | Q | 1804 | rs3802711 | Benign |
61728 | Q9H251 (CDH23) | D | E | 1806 | rs74145660 | Benign |
61729 | Q9H251 (CDH23) | V | M | 1807 | rs143993990 | Benign |
61730 | Q9H251 (CDH23) | D | N | 1846 | rs746323558 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61731 | Q9H251 (CDH23) | S | N | 1876 | rs983665281 | Benign |
61732 | Q9H251 (CDH23) | T | I | 1887 | rs397517340 | Benign |
61733 | Q9H251 (CDH23) | F | S | 1888 | rs121908352 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61734 | Q9H251 (CDH23) | V | I | 1908 | rs368828743 | Benign |
61735 | Q9H251 (CDH23) | R | W | 1912 | rs397517344 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61736 | Q9H251 (CDH23) | D | N | 1930 | - | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61737 | Q9H251 (CDH23) | T | S | 1999 | rs11592462 | Benign |
61738 | Q9H251 (CDH23) | G | S | 2017 | rs183431253 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61739 | Q9H251 (CDH23) | R | W | 2029 | rs750880909 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61740 | Q9H251 (CDH23) | E | K | 2044 | rs10466026 | Benign |
61741 | Q9H251 (CDH23) | D | N | 2045 | rs121908348 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61742 | Q9H251 (CDH23) | R | Q | 2066 | rs201887949 | Benign |
61743 | Q9H251 (CDH23) | I | M | 2125 | rs16929354 | Benign |
61744 | Q9H251 (CDH23) | A | V | 2130 | - | Benign |
61745 | Q9H251 (CDH23) | D | N | 2148 | rs111033271 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61746 | Q9H251 (CDH23) | R | C | 2171 | rs781698111 | Benign |
61747 | Q9H251 (CDH23) | D | N | 2202 | rs121908349 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61748 | Q9H251 (CDH23) | Q | P | 2227 | rs778453484 | Benign |
61749 | Q9H251 (CDH23) | V | I | 2283 | rs41281334 | Benign |
61750 | Q9H251 (CDH23) | N | K | 2287 | - | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61751 | Q9H251 (CDH23) | R | Q | 2358 | rs4747194 | Benign |
61752 | Q9H251 (CDH23) | D | N | 2376 | rs9663920 | Benign |
61753 | Q9H251 (CDH23) | D | V | 2376 | - | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61754 | Q9H251 (CDH23) | P | L | 2380 | rs4747195 | Benign |
61755 | Q9H251 (CDH23) | E | K | 2438 | rs1264310782 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61756 | Q9H251 (CDH23) | R | W | 2465 | rs760879110 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61757 | Q9H251 (CDH23) | L | P | 2473 | - | Benign |
61758 | Q9H251 (CDH23) | R | H | 2489 | rs141986620 | Benign |
61759 | Q9H251 (CDH23) | S | G | 2517 | rs759093040 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61760 | Q9H251 (CDH23) | T | I | 2530 | rs781406146 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61761 | Q9H251 (CDH23) | M | V | 2531 | rs569138025 | Benign |
61762 | Q9H251 (CDH23) | E | Q | 2588 | rs41281338 | Benign |
61763 | Q9H251 (CDH23) | R | H | 2608 | rs202052174 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61764 | Q9H251 (CDH23) | I | V | 2669 | - | Benign |
61765 | Q9H251 (CDH23) | G | S | 2744 | rs376189742 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61766 | Q9H251 (CDH23) | G | S | 2771 | rs201076440 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61767 | Q9H251 (CDH23) | F | V | 2801 | rs3802707 | Benign |
61768 | Q9H251 (CDH23) | R | G | 2833 | rs760130862 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61769 | Q9H251 (CDH23) | G | S | 2912 | rs1381655860 | Benign |
61770 | Q9H251 (CDH23) | V | E | 2933 | - | Benign |
61771 | Q9H251 (CDH23) | I | N | 2950 | rs752937051 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61772 | Q9H251 (CDH23) | D | N | 2954 | rs756793995 | Benign |
61773 | Q9H251 (CDH23) | R | C | 2956 | rs751367894 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61774 | Q9H251 (CDH23) | N | S | 2962 | - | Benign |
61775 | Q9H251 (CDH23) | V | A | 2968 | rs765847991 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61776 | Q9H251 (CDH23) | P | T | 3059 | rs780514498 | Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
61777 | Q9H251 (CDH23) | M | T | 3062 | rs770888523 | Benign |
61778 | Q9H251 (CDH23) | A | T | 3080 | rs369395479 | Benign |
61779 | Q9H251 (CDH23) | F | L | 3125 | rs45583140 | Benign |
61780 | Q9H251 (CDH23) | R | C | 3175 | rs770796134 | Benign |
61781 | Q9H251 (CDH23) | R | H | 3175 | rs140884994 | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61782 | Q9H251 (CDH23) | R | W | 3189 | rs121908353 | Disease: Usher syndrome 1D/F (USH1DF) [MIM:601067] |
61783 | Q9H251 (CDH23) | S | F | 3245 | - | Disease: Usher syndrome 1D (USH1D) [MIM:601067] |
61784 | Q9H252 (KCNH6) | G | R | 165 | rs35399062 | Benign |
61785 | Q9H252 (KCNH6) | T | M | 925 | rs35819807 | Benign |
61786 | Q9H254 (SPTBN4) | G | S | 1331 | rs814501 | Benign |
61787 | Q9H257 (CARD9) | S | N | 12 | rs4077515 | Benign |
61788 | Q9H257 (CARD9) | G | S | 72 | rs398122362 | Disease: Candidiasis, familial, 2 (CANDF2) [MIM:212050] |
61789 | Q9H257 (CARD9) | R | C | 101 | rs398122364 | Disease: Candidiasis, familial, 2 (CANDF2) [MIM:212050] |
61790 | Q9H257 (CARD9) | R | P | 373 | rs149712114 | Disease: Candidiasis, familial, 2 (CANDF2) [MIM:212050] |
61791 | Q9H267 (VPS33B) | L | P | 30 | rs121434385 | Disease: Arthrogrypos is, renal dysfunction and cholestasis syndrome 1 (ARCS1) [MIM:208085] |
61792 | Q9H267 (VPS33B) | S | F | 243 | rs139829189 | Disease: Arthrogrypos is, renal dysfunction and cholestasis syndrome 1 (ARCS1) [MIM:208085] |
61793 | Q9H267 (VPS33B) | F | S | 513 | rs3177428 | Benign |
61794 | Q9H267 (VPS33B) | G | S | 514 | rs11073964 | Benign |
61795 | Q9H269 (VPS16) | N | K | 52 | rs367642720 | Disease: - |
61796 | Q9H269 (VPS16) | S | I | 637 | rs35773586 | Benign |
61797 | Q9H270 (VPS11) | V | I | 770 | rs11558589 | Benign |
61798 | Q9H270 (VPS11) | C | G | 846 | - | Disease: Leukodystrop hy, hypomyelinat ing, 12 (HLD12) [MIM:616683] |
61799 | Q9H295 (DCSTAMP) | D | G | 349 | rs3802204 | Benign |
61800 | Q9H2A2 (ALDH8A1) | F | S | 402 | rs2294315 | Benign |
61801 | Q9H2A7 (CXCL16) | I | T | 123 | - | Benign |
61802 | Q9H2A7 (CXCL16) | A | V | 181 | rs2277680 | Benign |
61803 | Q9H2A9 (CHST8) | R | W | 77 | rs149660944 | Disease: Peeling skin syndrome 3 (PSS3) [MIM:616265] |
61804 | Q9H2B2 (SYT4) | S | N | 142 | rs16977447 | Benign |
61805 | Q9H2B4 (SLC26A1) | T | M | 185 | rs139024319 | Disease: Nephrolithia sis, calcium oxalate (CAON) [MIM:167030] |
61806 | Q9H2B4 (SLC26A1) | S | L | 358 | rs148832260 | Disease: Nephrolithia sis, calcium oxalate (CAON) [MIM:167030] |
61807 | Q9H2B4 (SLC26A1) | Q | R | 556 | rs3796622 | Benign |
61808 | Q9H2C0 (GAN) | R | S | 15 | rs119485093 | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61809 | Q9H2C0 (GAN) | A | P | 51 | rs750258209 | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61810 | Q9H2C0 (GAN) | S | G | 52 | - | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61811 | Q9H2C0 (GAN) | S | L | 79 | rs1310137430 | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61812 | Q9H2C0 (GAN) | V | F | 82 | - | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61813 | Q9H2C0 (GAN) | I | F | 86 | - | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61814 | Q9H2C0 (GAN) | Y | C | 89 | - | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61815 | Q9H2C0 (GAN) | I | T | 102 | - | Disease: - |
61816 | Q9H2C0 (GAN) | R | H | 138 | rs119485092 | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61817 | Q9H2C0 (GAN) | V | F | 195 | - | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61818 | Q9H2C0 (GAN) | R | Q | 269 | rs759581558 | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61819 | Q9H2C0 (GAN) | L | R | 309 | - | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61820 | Q9H2C0 (GAN) | P | L | 315 | rs144486241 | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61821 | Q9H2C0 (GAN) | G | R | 368 | rs758756818 | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61822 | Q9H2C0 (GAN) | I | T | 423 | rs119485091 | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61823 | Q9H2C0 (GAN) | V | I | 438 | - | Disease: - |
61824 | Q9H2C0 (GAN) | G | R | 474 | rs1435035575 | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61825 | Q9H2C0 (GAN) | E | K | 486 | rs119485088 | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61826 | Q9H2C0 (GAN) | R | C | 545 | rs112201678 | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61827 | Q9H2C0 (GAN) | R | H | 545 | rs746486469 | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61828 | Q9H2C0 (GAN) | C | Y | 570 | - | Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850] |
61829 | Q9H2C2 (ARV1) | G | E | 101 | rs35764859 | Benign |
61830 | Q9H2C2 (ARV1) | G | R | 189 | rs730882241 | Disease: Epileptic encephalopat hy, early infantile, 38 (EIEE38) [MIM:617020] |
61831 | Q9H2C8 (OR51V1) | L | V | 211 | - | Benign |
61832 | Q9H2C8 (OR51V1) | S | L | 233 | rs7933549 | Benign |
61833 | Q9H2D1 (SLC25A32) | R | H | 117 | rs17803441 | Benign |
61834 | Q9H2D1 (SLC25A32) | R | H | 147 | rs142329098 | Disease: Exercise intolerance, riboflavin- responsive (RREI) [MIM:616839] |
61835 | Q9H2D6 (TRIOBP) | S | N | 217 | rs12628603 | Benign |
61836 | Q9H2D6 (TRIOBP) | S | N | 493 | rs4821700 | Benign |
61837 | Q9H2D6 (TRIOBP) | T | S | 817 | rs41302575 | Benign |
61838 | Q9H2D6 (TRIOBP) | N | K | 863 | rs9610841 | Benign |
61839 | Q9H2D6 (TRIOBP) | G | R | 1019 | rs549095193 | Disease: Deafness, autosomal recessive, 28 (DFNB28) [MIM:609823] |
61840 | Q9H2D6 (TRIOBP) | F | L | 1187 | rs5756795 | Benign |
61841 | Q9H2D6 (TRIOBP) | H | R | 1300 | rs739138 | Benign |
61842 | Q9H2D6 (TRIOBP) | E | D | 1372 | rs8140207 | Benign |
61843 | Q9H2D6 (TRIOBP) | W | R | 1377 | rs8140958 | Benign |
61844 | Q9H2E6 (SEMA6A) | Y | H | 518 | rs34966 | Benign |
61845 | Q9H2E6 (SEMA6A) | R | H | 559 | rs17432496 | Benign |
61846 | Q9H2E6 (SEMA6A) | D | E | 567 | rs12516652 | Benign |
61847 | Q9H2F3 (HSD3B7) | G | S | 19 | - | Disease: Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765] |
61848 | Q9H2F3 (HSD3B7) | E | K | 147 | rs104894518 | Disease: Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765] |
61849 | Q9H2F3 (HSD3B7) | T | A | 250 | rs9938550 | Benign |
61850 | Q9H2F3 (HSD3B7) | L | P | 347 | rs34212827 | Benign |
61851 | Q9H2F5 (EPC1) | V | L | 123 | - | Benign |
61852 | Q9H2F9 (CCDC68) | V | A | 249 | rs34751112 | Benign |
61853 | Q9H2G2 (SLK) | C | Y | 552 | rs805657 | Benign |
61854 | Q9H2G2 (SLK) | A | G | 658 | rs56400929 | Benign |
61855 | Q9H2G2 (SLK) | G | E | 666 | rs7071400 | Benign |
61856 | Q9H2G2 (SLK) | I | T | 679 | rs34326537 | Benign |
61857 | Q9H2G2 (SLK) | K | N | 683 | rs35389916 | Benign |
61858 | Q9H2G2 (SLK) | T | I | 697 | rs3740469 | Benign |
61859 | Q9H2G9 (BLZF1) | Q | R | 40 | rs1028180 | Benign |
61860 | Q9H2G9 (BLZF1) | R | Q | 196 | rs1064274 | Benign |
61861 | Q9H2H8 (PPIL3) | D | E | 146 | rs7562391 | Benign |
61862 | Q9H2I8 (LRMDA) | S | F | 153 | rs35349706 | Benign |
61863 | Q9H2J7 (SLC6A15) | A | V | 400 | rs12424429 | Benign |
61864 | Q9H2J7 (SLC6A15) | I | M | 603 | rs3782369 | Benign |
61865 | Q9H2K0 (MTIF3) | T | I | 68 | rs17857314 | Benign |
61866 | Q9H2K0 (MTIF3) | F | L | 243 | rs1218825 | Benign |
61867 | Q9H2K8 (TAOK3) | S | N | 47 | rs428073 | Benign |
61868 | Q9H2K8 (TAOK3) | C | Y | 727 | rs55857273 | Benign |
61869 | Q9H2L4 (TMEM60) | V | G | 42 | rs34580932 | Benign |
61870 | Q9H2L5 (RASSF4) | H | Y | 10 | rs34692238 | Benign |
61871 | Q9H2L5 (RASSF4) | R | G | 88 | rs870957 | Benign |
61872 | Q9H2M9 (RAB3GAP2) | T | A | 863 | rs12045447 | Benign |
61873 | Q9H2M9 (RAB3GAP2) | G | C | 1052 | rs121434310 | Disease: Martsolf syndrome (MARTS) [MIM:212720] |
61874 | Q9H2M9 (RAB3GAP2) | S | T | 1092 | rs2289189 | Benign |
61875 | Q9H2R5 (KLK15) | P | L | 134 | rs3212805 | Benign |
61876 | Q9H2S5 (RNF39) | S | P | 203 | rs2074479 | Benign |
61877 | Q9H2S5 (RNF39) | A | T | 245 | rs2301752 | Benign |
61878 | Q9H2S5 (RNF39) | D | N | 268 | rs1057539 | Benign |
61879 | Q9H2S5 (RNF39) | A | E | 304 | rs2301753 | Benign |
61880 | Q9H2U1 (DHX36) | E | K | 151 | rs1058299 | Benign |
61881 | Q9H2U1 (DHX36) | S | C | 416 | rs9438 | Benign |
61882 | Q9H2U1 (DHX36) | I | N | 583 | rs17853513 | Benign |
61883 | Q9H2U2 (PPA2) | S | P | 61 | - | Disease: Sudden cardiac failure, infantile (SCFI) [MIM:617222] |
61884 | Q9H2U2 (PPA2) | M | V | 94 | rs1057517679 | Disease: Sudden cardiac failure, infantile (SCFI) [MIM:617222] |
61885 | Q9H2U2 (PPA2) | M | I | 106 | rs1057517680 | Disease: Sudden cardiac failure, infantile (SCFI) [MIM:617222] |
61886 | Q9H2U2 (PPA2) | R | L | 127 | rs139076647 | Disease: Sudden cardiac failure, infantile (SCFI) [MIM:617222] |
61887 | Q9H2U2 (PPA2) | P | L | 167 | rs546693824 | Disease: Sudden cardiac failure, infantile (SCFI) [MIM:617222] |
61888 | Q9H2U2 (PPA2) | E | K | 172 | rs146013446 | Disease: Sudden cardiac failure, infantile (SCFI) [MIM:617222] |
61889 | Q9H2U2 (PPA2) | P | L | 228 | rs138215926 | Disease: Sudden cardiac failure, alcohol- induced (SCFAI) [MIM:617223] |
61890 | Q9H2U2 (PPA2) | K | N | 282 | rs13787 | Benign |
61891 | Q9H2U2 (PPA2) | Q | P | 294 | rs1057517678 | Disease: Sudden cardiac failure, infantile (SCFI) [MIM:617222] |
61892 | Q9H2U9 (ADAM7) | E | Q | 25 | rs34852692 | Benign |
61893 | Q9H2U9 (ADAM7) | I | V | 205 | rs7829386 | Benign |
61894 | Q9H2U9 (ADAM7) | V | M | 244 | rs13255694 | Benign |
61895 | Q9H2U9 (ADAM7) | I | T | 453 | rs3736281 | Benign |
61896 | Q9H2U9 (ADAM7) | L | V | 570 | rs2307044 | Benign |
61897 | Q9H2U9 (ADAM7) | N | H | 638 | rs13259668 | Benign |
61898 | Q9H2U9 (ADAM7) | L | P | 735 | rs6980829 | Benign |
61899 | Q9H2V7 (SPNS1) | A | P | 230 | rs17855956 | Benign |
61900 | Q9H2W1 (MS4A6A) | A | S | 183 | rs1440597159 | Benign |
61901 | Q9H2W1 (MS4A6A) | T | S | 185 | rs7232 | Benign |
61902 | Q9H2W6 (MRPL46) | H | Y | 106 | rs16941888 | Benign |
61903 | Q9H2X0 (CHRD) | P | S | 94 | rs34095724 | Benign |
61904 | Q9H2X0 (CHRD) | M | L | 630 | rs16858780 | Benign |
61905 | Q9H2X3 (CLEC4M) | R | Q | 164 | rs11465376 | Benign |
61906 | Q9H2X3 (CLEC4M) | Y | C | 205 | rs479448 | Benign |
61907 | Q9H2X3 (CLEC4M) | Y | C | 251 | rs479448 | Benign |
61908 | Q9H2X3 (CLEC4M) | D | N | 291 | rs2277998 | Benign |
61909 | Q9H2X6 (HIPK2) | R | Q | 792 | rs56132157 | Benign |
61910 | Q9H2X6 (HIPK2) | R | Q | 1027 | rs35255718 | Benign |
61911 | Q9H2X9 (SLC12A5) | L | H | 311 | rs863225306 | Disease: Epileptic encephalopat hy, early infantile, 34 (EIEE34) [MIM:616645] |
61912 | Q9H2X9 (SLC12A5) | P | A | 407 | rs16985442 | Benign |
61913 | Q9H2X9 (SLC12A5) | L | P | 426 | rs863225304 | Disease: Epileptic encephalopat hy, early infantile, 34 (EIEE34) [MIM:616645] |
61914 | Q9H2X9 (SLC12A5) | G | D | 551 | rs863225305 | Disease: Epileptic encephalopat hy, early infantile, 34 (EIEE34) [MIM:616645] |
61915 | Q9H2X9 (SLC12A5) | R | H | 975 | rs142740233 | Disease: Epilepsy, idiopathic generalized 14 (EIG14) [MIM:616685] |
61916 | Q9H2X9 (SLC12A5) | R | W | 1071 | rs369042030 | Benign |
61917 | Q9H2X9 (SLC12A5) | R | C | 1072 | rs548424453 | Disease: Epilepsy, idiopathic generalized 14 (EIG14) [MIM:616685] |
61918 | Q9H2X9 (SLC12A5) | P | L | 1100 | rs17297532 | Benign |
61919 | Q9H2Y7 (ZNF106) | W | R | 103 | rs12440118 | Benign |
61920 | Q9H2Y7 (ZNF106) | I | T | 646 | rs12101559 | Benign |
61921 | Q9H2Y7 (ZNF106) | M | V | 656 | rs34792942 | Benign |
61922 | Q9H2Y7 (ZNF106) | P | T | 1162 | rs34983340 | Benign |
61923 | Q9H2Y9 (SLCO5A1) | L | F | 33 | rs3750266 | Benign |
61924 | Q9H300 (PARL) | A | G | 137 | rs4912470 | Benign |
61925 | Q9H300 (PARL) | V | L | 262 | rs3732581 | Benign |
61926 | Q9H306 (MMP27) | R | W | 22 | rs12099177 | Benign |
61927 | Q9H306 (MMP27) | T | M | 24 | rs1939015 | Benign |
61928 | Q9H306 (MMP27) | M | V | 30 | rs2846707 | Benign |
61929 | Q9H306 (MMP27) | E | V | 266 | rs1276286 | Benign |
61930 | Q9H306 (MMP27) | W | L | 304 | rs35616217 | Benign |
61931 | Q9H306 (MMP27) | D | N | 447 | rs2509010 | Benign |
61932 | Q9H306 (MMP27) | I | V | 477 | rs35822551 | Benign |
61933 | Q9H307 (PNN) | S | G | 671 | rs13021 | Benign |
61934 | Q9H310 (RHBG) | G | D | 76 | rs2245623 | Benign |
61935 | Q9H310 (RHBG) | V | D | 143 | rs11586833 | Benign |
61936 | Q9H310 (RHBG) | G | R | 315 | rs3748569 | Benign |
61937 | Q9H310 (RHBG) | C | R | 339 | rs3748567 | Benign |
61938 | Q9H320 (VCX) | A | G | 70 | rs6639946 | Benign |
61939 | Q9H320 (VCX) | P | L | 194 | rs78342118 | Benign |
61940 | Q9H321 (VCX3B) | K | T | 15 | rs201965035 | Benign |
61941 | Q9H322 (VCX2) | A | G | 70 | rs41309545 | Benign |
61942 | Q9H322 (VCX2) | L | P | 104 | rs41305169 | Benign |
61943 | Q9H322 (VCX2) | V | L | 110 | rs1058237 | Benign |
61944 | Q9H322 (VCX2) | T | S | 138 | rs1058239 | Benign |
61945 | Q9H324 (ADAMTS10) | A | T | 25 | - | Disease: Weill- Marchesani syndrome 1 (WMS1) [MIM:277600] |
61946 | Q9H324 (ADAMTS10) | R | Q | 119 | rs3814291 | Benign |
61947 | Q9H324 (ADAMTS10) | T | S | 134 | rs7255721 | Benign |
61948 | Q9H329 (EPB41L4B) | N | T | 816 | rs3750450 | Benign |
61949 | Q9H330 (TMEM245) | D | E | 9 | rs12001627 | Benign |
61950 | Q9H330 (TMEM245) | A | T | 314 | rs2271877 | Benign |
61951 | Q9H330 (TMEM245) | T | A | 787 | rs3750455 | Benign |
61952 | Q9H334 (FOXP1) | S | P | 5 | rs762898505 | Benign |
61953 | Q9H334 (FOXP1) | M | V | 101 | rs564508875 | Benign |
61954 | Q9H334 (FOXP1) | I | T | 107 | - | Benign |
61955 | Q9H334 (FOXP1) | P | A | 215 | rs146606219 | Benign |
61956 | Q9H334 (FOXP1) | S | P | 261 | - | Benign |
61957 | Q9H334 (FOXP1) | T | S | 390 | rs761840006 | Benign |
61958 | Q9H334 (FOXP1) | V | M | 445 | rs147756430 | Benign |
61959 | Q9H334 (FOXP1) | R | G | 465 | rs869025202 | Disease: Mental retardation with language impairment and autistic features (MRLIAF) [MIM:613670] |
61960 | Q9H334 (FOXP1) | R | C | 514 | rs869025203 | Disease: Mental retardation with language impairment and autistic features (MRLIAF) [MIM:613670] |
61961 | Q9H334 (FOXP1) | W | R | 534 | rs587777855 | Disease: Mental retardation with language impairment and autistic features (MRLIAF) [MIM:613670] |
61962 | Q9H334 (FOXP1) | N | S | 570 | rs140161845 | Benign |
61963 | Q9H334 (FOXP1) | N | T | 597 | - | Benign |
61964 | Q9H334 (FOXP1) | T | N | 613 | rs1318614471 | Benign |
61965 | Q9H336 (CRISPLD1) | A | S | 286 | rs1945 | Benign |
61966 | Q9H339 (OR51B5) | G | S | 5 | rs11036913 | Benign |
61967 | Q9H339 (OR51B5) | T | K | 78 | rs57273781 | Benign |
61968 | Q9H339 (OR51B5) | R | G | 88 | rs57900141 | Benign |
61969 | Q9H339 (OR51B5) | I | T | 102 | rs11036912 | Benign |
61970 | Q9H339 (OR51B5) | V | I | 154 | rs12273630 | Benign |
61971 | Q9H339 (OR51B5) | P | L | 160 | rs4910551 | Benign |
61972 | Q9H339 (OR51B5) | L | F | 220 | rs7120319 | Benign |
61973 | Q9H340 (OR51B6) | K | T | 5 | rs4910755 | Benign |
61974 | Q9H340 (OR51B6) | N | S | 40 | rs4910756 | Benign |
61975 | Q9H340 (OR51B6) | I | T | 90 | rs7483122 | Benign |
61976 | Q9H340 (OR51B6) | T | A | 123 | rs5006889 | Benign |
61977 | Q9H340 (OR51B6) | R | H | 125 | rs7479477 | Benign |
61978 | Q9H340 (OR51B6) | S | N | 126 | rs5006888 | Benign |
61979 | Q9H340 (OR51B6) | T | I | 131 | rs5006887 | Benign |
61980 | Q9H340 (OR51B6) | R | G | 145 | rs5006886 | Benign |
61981 | Q9H340 (OR51B6) | S | A | 169 | rs5006885 | Benign |
61982 | Q9H340 (OR51B6) | L | F | 172 | rs5006884 | Benign |
61983 | Q9H340 (OR51B6) | F | L | 192 | rs5006883 | Benign |
61984 | Q9H340 (OR51B6) | V | L | 254 | rs7106330 | Benign |
61985 | Q9H340 (OR51B6) | S | R | 275 | rs5024042 | Benign |
61986 | Q9H341 (OR51M1) | H | Q | 102 | rs1498467 | Benign |
61987 | Q9H341 (OR51M1) | L | F | 135 | rs1498468 | Benign |
61988 | Q9H341 (OR51M1) | I | T | 204 | rs1498469 | Benign |
61989 | Q9H341 (OR51M1) | P | H | 256 | rs9783355 | Benign |
61990 | Q9H341 (OR51M1) | L | R | 257 | rs2736531 | Benign |
61991 | Q9H341 (OR51M1) | F | L | 318 | rs10768907 | Benign |
61992 | Q9H342 (OR51J1) | C | Y | 100 | rs1909261 | Benign |
61993 | Q9H343 (OR51I1) | R | H | 124 | rs16930982 | Benign |
61994 | Q9H343 (OR51I1) | V | L | 164 | rs11037445 | Benign |
61995 | Q9H343 (OR51I1) | A | S | 252 | rs1498486 | Benign |
61996 | Q9H344 (OR51I2) | R | C | 122 | rs10450603 | Benign |
61997 | Q9H344 (OR51I2) | T | A | 134 | rs12577167 | Benign |
61998 | Q9H344 (OR51I2) | R | P | 151 | rs16931292 | Benign |
61999 | Q9H344 (OR51I2) | R | H | 263 | rs11037502 | Benign |
62000 | Q9H346 (OR52D1) | R | C | 154 | rs7935144 | Benign |
62001 | Q9H346 (OR52D1) | D | E | 213 | rs7924754 | Benign |
62002 | Q9H346 (OR52D1) | Y | F | 221 | rs7950082 | Benign |
62003 | Q9H346 (OR52D1) | I | T | 251 | rs7101919 | Benign |
62004 | Q9H346 (OR52D1) | R | W | 304 | rs11037758 | Benign |
62005 | Q9H347 (UBQLN3) | C | R | 255 | rs2234446 | Benign |
62006 | Q9H347 (UBQLN3) | N | D | 285 | rs2234449 | Benign |
62007 | Q9H347 (UBQLN3) | T | A | 287 | rs2234450 | Benign |
62008 | Q9H347 (UBQLN3) | T | S | 290 | rs2234451 | Benign |
62009 | Q9H347 (UBQLN3) | M | T | 546 | rs2234455 | Benign |
62010 | Q9H347 (UBQLN3) | R | Q | 624 | rs2227271 | Benign |
62011 | Q9H3D4 (TP63) | S | L | 129 | rs193287780 | Benign |
62012 | Q9H3D4 (TP63) | K | E | 232 | - | Disease: Split- hand/foot malformation 4 (SHFM4) [MIM:605289] |
62013 | Q9H3D4 (TP63) | K | E | 233 | rs121908838 | Disease: Split- hand/foot malformation 4 (SHFM4) [MIM:605289] |
62014 | Q9H3D4 (TP63) | R | Q | 243 | rs121908836 | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62015 | Q9H3D4 (TP63) | R | W | 243 | rs121908835 | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62016 | Q9H3D4 (TP63) | R | Q | 266 | rs121908849 | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62017 | Q9H3D4 (TP63) | C | Y | 308 | - | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62018 | Q9H3D4 (TP63) | S | N | 311 | - | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62019 | Q9H3D4 (TP63) | R | C | 318 | rs1205536026 | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62020 | Q9H3D4 (TP63) | R | H | 318 | rs121908840 | Disease: Rapp-Hodgkin syndrome (RHS) [MIM:129400] |
62021 | Q9H3D4 (TP63) | R | Q | 318 | - | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62022 | Q9H3D4 (TP63) | R | C | 319 | rs121908839 | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62023 | Q9H3D4 (TP63) | R | H | 319 | rs886039442 | Disease: Split- hand/foot malformation 4 (SHFM4) [MIM:605289] |
62024 | Q9H3D4 (TP63) | R | S | 319 | - | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62025 | Q9H3D4 (TP63) | R | Q | 337 | rs113993967 | Disease: Acro- dermato- ungual- lacrimal- tooth syndrome (ADULT syndrome) [MIM:103285] |
62026 | Q9H3D4 (TP63) | R | Q | 343 | rs121908841 | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62027 | Q9H3D4 (TP63) | R | W | 343 | rs886041251 | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62028 | Q9H3D4 (TP63) | C | R | 345 | rs121908837 | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62029 | Q9H3D4 (TP63) | C | S | 347 | - | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62030 | Q9H3D4 (TP63) | P | S | 348 | - | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62031 | Q9H3D4 (TP63) | D | G | 351 | rs121908844 | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62032 | Q9H3D4 (TP63) | D | H | 351 | - | Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] |
62033 | Q9H3D4 (TP63) | R | G | 352 | rs121908847 | Disease: Orofacial cleft 8 (OFC8) [MIM:618149] |
62034 | Q9H3D4 (TP63) | I | T | 549 | rs121908845 | Disease: Rapp-Hodgkin syndrome (RHS) [MIM:129400] |
62035 | Q9H3D4 (TP63) | L | F | 553 | rs121908842 | Disease: Ankyloblepha ron- ectodermal defects- cleft lip/palate (AEC) [MIM:106260] |
62036 | Q9H3D4 (TP63) | C | G | 561 | rs121908843 | Disease: Ankyloblepha ron- ectodermal defects- cleft lip/palate (AEC) [MIM:106260] |
62037 | Q9H3D4 (TP63) | S | P | 580 | rs121908846 | Disease: Rapp-Hodgkin syndrome (RHS) [MIM:129400] |
62038 | Q9H3D4 (TP63) | D | H | 603 | rs767906723 | Benign |
62039 | Q9H3E2 (SNX25) | E | K | 318 | rs35700132 | Benign |
62040 | Q9H3E2 (SNX25) | I | V | 586 | rs3756275 | Benign |
62041 | Q9H3E2 (SNX25) | T | I | 725 | rs34120554 | Benign |
62042 | Q9H3G5 (CPVL) | S | L | 11 | rs36074676 | Benign |
62043 | Q9H3G5 (CPVL) | R | H | 25 | rs34219043 | Benign |
62044 | Q9H3G5 (CPVL) | R | H | 398 | rs1052200 | Benign |
62045 | Q9H3G5 (CPVL) | A | V | 435 | rs7313 | Benign |
62046 | Q9H3H1 (TRIT1) | F | L | 202 | rs3738671 | Benign |
62047 | Q9H3H1 (TRIT1) | R | Q | 323 | rs1047420796 | Disease: Combined oxidative phosphorylat ion deficiency 35 (COXPD35) [MIM:617873] |
62048 | Q9H3H3 (C11orf68) | Q | R | 195 | rs7947504 | Benign |
62049 | Q9H3H5 (DPAGT1) | M | I | 108 | rs376039938 | Disease: Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750] |
62050 | Q9H3H5 (DPAGT1) | V | I | 117 | rs387907243 | Disease: Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750] |
62051 | Q9H3H5 (DPAGT1) | L | M | 120 | rs387907244 | Disease: Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750] |
62052 | Q9H3H5 (DPAGT1) | G | S | 160 | rs762676399 | Disease: Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750] |
62053 | Q9H3H5 (DPAGT1) | Y | C | 170 | rs28934876 | Disease: Congenital disorder of glycosylatio n 1J (CDG1J) [MIM:608093] |
62054 | Q9H3H5 (DPAGT1) | G | S | 192 | rs768464558 | Disease: Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750] |
62055 | Q9H3H5 (DPAGT1) | V | G | 264 | rs387907245 | Disease: Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750] |
62056 | Q9H3H5 (DPAGT1) | I | V | 393 | rs643788 | Benign |
62057 | Q9H3H9 (TCEAL2) | D | G | 19 | rs34924423 | Benign |
62058 | Q9H3H9 (TCEAL2) | G | A | 68 | rs5944856 | Benign |
62059 | Q9H3J6 (C12orf65) | A | T | 134 | rs1045496 | Benign |
62060 | Q9H3L0 (MMADHC) | T | N | 182 | rs118204045 | Disease: Methylmaloni c aciduria and homocystinur ia, cblD type (MAHCD) [MIM:277410] |
62061 | Q9H3L0 (MMADHC) | Y | C | 249 | rs118204046 | Disease: Methylmaloni c aciduria and homocystinur ia, cblD type (MAHCD) [MIM:277410] |
62062 | Q9H3L0 (MMADHC) | L | P | 259 | rs118204044 | Disease: Methylmaloni c aciduria and homocystinur ia, cblD type (MAHCD) [MIM:277410] |
62063 | Q9H3M7 (TXNIP) | R | Q | 177 | rs6674773 | Benign |
62064 | Q9H3M9 (ATXN3L) | L | F | 266 | rs16999010 | Benign |
62065 | Q9H3M9 (ATXN3L) | G | D | 332 | rs4830842 | Benign |
62066 | Q9H3N8 (HRH4) | A | V | 138 | rs11665084 | Benign |
62067 | Q9H3N8 (HRH4) | H | R | 206 | rs11662595 | Benign |
62068 | Q9H3P2 (NELFA) | S | A | 335 | rs2234569 | Benign |
62069 | Q9H3P7 (ACBD3) | E | D | 187 | rs2306120 | Benign |
62070 | Q9H3Q3 (GAL3ST2) | M | L | 4 | rs12469459 | Benign |
62071 | Q9H3R0 (KDM4C) | E | D | 206 | rs7864351 | Benign |
62072 | Q9H3R0 (KDM4C) | D | N | 396 | rs2296067 | Benign |
62073 | Q9H3R0 (KDM4C) | S | T | 492 | rs35826653 | Benign |
62074 | Q9H3R0 (KDM4C) | N | S | 697 | rs35389625 | Benign |
62075 | Q9H3R0 (KDM4C) | Q | E | 767 | rs1407856 | Benign |
62076 | Q9H3R0 (KDM4C) | K | R | 772 | rs1417290 | Benign |
62077 | Q9H3R0 (KDM4C) | V | I | 1039 | rs913588 | Benign |
62078 | Q9H3R1 (NDST4) | R | Q | 12 | rs35181627 | Benign |
62079 | Q9H3R2 (MUC13) | A | V | 18 | rs4679394 | Benign |
62080 | Q9H3R2 (MUC13) | I | T | 100 | rs4679392 | Benign |
62081 | Q9H3R2 (MUC13) | S | G | 364 | rs16836185 | Benign |
62082 | Q9H3R2 (MUC13) | R | S | 503 | rs1127233 | Benign |
62083 | Q9H3S1 (SEMA4A) | D | H | 345 | rs267607033 | Disease: Retinitis pigmentosa 35 (RP35) [MIM:610282] |
62084 | Q9H3S1 (SEMA4A) | F | C | 350 | rs267607034 | Disease: Retinitis pigmentosa 35 (RP35) [MIM:610282] |
62085 | Q9H3S1 (SEMA4A) | R | Q | 510 | rs2075164 | Benign |
62086 | Q9H3S1 (SEMA4A) | R | Q | 713 | rs41265017 | Benign |
62087 | Q9H3S3 (TMPRSS5) | R | Q | 46 | rs11601425 | Benign |
62088 | Q9H3S3 (TMPRSS5) | V | M | 125 | rs7939917 | Benign |
62089 | Q9H3S3 (TMPRSS5) | A | V | 249 | rs1263487635 | Benign |
62090 | Q9H3S3 (TMPRSS5) | P | S | 337 | - | Benign |
62091 | Q9H3S3 (TMPRSS5) | F | L | 369 | rs7110736 | Benign |
62092 | Q9H3S4 (TPK1) | L | P | 40 | rs387906936 | Disease: Thiamine metabolism dysfunction syndrome 5, episodic encephalopat hy type (THMD5) [MIM:614458] |
62093 | Q9H3S4 (TPK1) | N | H | 50 | rs387906935 | Disease: Thiamine metabolism dysfunction syndrome 5, episodic encephalopat hy type (THMD5) [MIM:614458] |
62094 | Q9H3S4 (TPK1) | N | S | 219 | rs371271054 | Disease: Thiamine metabolism dysfunction syndrome 5, episodic encephalopat hy type (THMD5) [MIM:614458] |
62095 | Q9H3S5 (PIGM) | F | L | 365 | rs12409352 | Benign |
62096 | Q9H3S7 (PTPN23) | A | T | 944 | rs6780013 | Benign |
62097 | Q9H3T2 (SEMA6C) | T | P | 455 | rs4971007 | Benign |
62098 | Q9H3U1 (UNC45A) | T | M | 796 | rs8041035 | Benign |
62099 | Q9H3U5 (MFSD1) | P | S | 24 | rs28364680 | Benign |
62100 | Q9H3U5 (MFSD1) | K | E | 168 | rs17854200 | Benign |
62101 | Q9H3U5 (MFSD1) | I | V | 220 | rs3765083 | Benign |
62102 | Q9H3U5 (MFSD1) | I | T | 271 | rs11551240 | Benign |
62103 | Q9H3W5 (LRRN3) | D | G | 24 | rs9942557 | Benign |
62104 | Q9H3Y0 (R3HDML) | F | C | 15 | rs11699901 | Benign |
62105 | Q9H3Y0 (R3HDML) | D | N | 68 | rs36117710 | Benign |
62106 | Q9H3Y6 (SRMS) | R | C | 73 | rs56053583 | Benign |
62107 | Q9H3Y6 (SRMS) | G | R | 75 | rs55863722 | Benign |
62108 | Q9H3Y6 (SRMS) | I | V | 88 | rs35558836 | Benign |
62109 | Q9H3Y6 (SRMS) | P | L | 218 | rs378483 | Benign |
62110 | Q9H3Y6 (SRMS) | V | M | 255 | rs34969822 | Benign |
62111 | Q9H3Y6 (SRMS) | V | L | 301 | rs310657 | Benign |
62112 | Q9H3Y6 (SRMS) | P | L | 325 | rs8122355 | Benign |
62113 | Q9H3Y6 (SRMS) | D | E | 377 | rs55838540 | Benign |
62114 | Q9H3Y6 (SRMS) | A | V | 397 | rs6011889 | Benign |
62115 | Q9H3Y6 (SRMS) | P | L | 452 | rs8120713 | Benign |
62116 | Q9H3Y6 (SRMS) | A | T | 453 | rs310655 | Benign |
62117 | Q9H3Y6 (SRMS) | V | L | 457 | rs310654 | Benign |
62118 | Q9H3Y6 (SRMS) | S | T | 465 | rs33933649 | Benign |
62119 | Q9H3Z4 (DNAJC5) | L | R | 115 | rs387907043 | Disease: Ceroid lipofuscinos is, neuronal, 4B (CLN4B) [MIM:162350] |
62120 | Q9H3Z7 (ABHD16B) | L | Q | 10 | rs2281534 | Benign |
62121 | Q9H400 (LIME1) | P | L | 211 | rs1151625 | Benign |
62122 | Q9H422 (HIPK3) | Q | R | 142 | rs34193811 | Benign |
62123 | Q9H422 (HIPK3) | G | E | 170 | rs34698015 | Benign |
62124 | Q9H422 (HIPK3) | C | R | 191 | rs35689361 | Benign |
62125 | Q9H422 (HIPK3) | V | I | 474 | rs266472 | Benign |
62126 | Q9H422 (HIPK3) | S | N | 500 | rs11032229 | Benign |
62127 | Q9H422 (HIPK3) | P | L | 729 | rs55807239 | Benign |
62128 | Q9H425 (C1orf198) | A | S | 274 | rs34864456 | Benign |
62129 | Q9H425 (C1orf198) | K | R | 306 | rs35115679 | Benign |
62130 | Q9H427 (KCNK15) | G | E | 95 | rs1111032 | Benign |
62131 | Q9H427 (KCNK15) | P | T | 260 | rs6073538 | Benign |
62132 | Q9H427 (KCNK15) | P | H | 261 | rs13037900 | Benign |
62133 | Q9H427 (KCNK15) | P | L | 323 | rs13042905 | Benign |
62134 | Q9H444 (CHMP4B) | D | V | 129 | rs118203965 | Disease: Cataract 31, multiple types (CTRCT31) [MIM:605387] |
62135 | Q9H444 (CHMP4B) | E | K | 161 | rs118203966 | Disease: Cataract 31, multiple types (CTRCT31) [MIM:605387] |
62136 | Q9H488 (POFUT1) | L | F | 322 | rs17268666 | Benign |
62137 | Q9H488 (POFUT1) | D | N | 348 | rs35259534 | Benign |
62138 | Q9H489 (TSPY26P) | P | H | 246 | rs3813922 | Benign |
62139 | Q9H490 (PIGU) | I | K | 70 | - | Disease: Glycosylphos phatidylinos itol biosynthesis defect 21 (GPIBD21) [MIM:618590] |
62140 | Q9H490 (PIGU) | N | K | 383 | - | Disease: Glycosylphos phatidylinos itol biosynthesis defect 21 (GPIBD21) [MIM:618590] |
62141 | Q9H497 (TOR3A) | F | L | 13 | rs2296377 | Benign |
62142 | Q9H4A3 (WNK1) | A | T | 141 | rs11554421 | Benign |
62143 | Q9H4A3 (WNK1) | A | V | 149 | rs34880640 | Benign |
62144 | Q9H4A3 (WNK1) | I | T | 509 | rs34728563 | Benign |
62145 | Q9H4A3 (WNK1) | D | G | 527 | rs34408667 | Benign |
62146 | Q9H4A3 (WNK1) | T | I | 665 | rs2286007 | Benign |
62147 | Q9H4A3 (WNK1) | T | A | 674 | rs11833299 | Benign |
62148 | Q9H4A3 (WNK1) | H | R | 823 | rs56015776 | Benign |
62149 | Q9H4A3 (WNK1) | T | P | 1056 | rs956868 | Benign |
62150 | Q9H4A3 (WNK1) | C | S | 1506 | rs7955371 | Benign |
62151 | Q9H4A3 (WNK1) | A | V | 1546 | rs56351358 | Benign |
62152 | Q9H4A3 (WNK1) | M | I | 1808 | rs12828016 | Benign |
62153 | Q9H4A3 (WNK1) | P | L | 1823 | rs17755373 | Benign |
62154 | Q9H4A3 (WNK1) | R | H | 1957 | rs36083875 | Benign |
62155 | Q9H4A3 (WNK1) | R | W | 2380 | rs56262445 | Benign |
62156 | Q9H4A4 (RNPEP) | V | I | 579 | rs3820439 | Benign |
62157 | Q9H4A9 (DPEP2) | R | P | 201 | rs255051 | Benign |
62158 | Q9H4A9 (DPEP2) | H | D | 468 | rs1133090 | Benign |
62159 | Q9H4B0 (OSGEPL1) | A | P | 229 | rs3749014 | Benign |
62160 | Q9H4B4 (PLK3) | T | S | 61 | rs17884581 | Benign |
62161 | Q9H4B4 (PLK3) | L | F | 68 | rs17884316 | Benign |
62162 | Q9H4B4 (PLK3) | L | F | 283 | rs17880471 | Benign |
62163 | Q9H4B4 (PLK3) | R | C | 483 | rs17884653 | Benign |
62164 | Q9H4B4 (PLK3) | D | N | 491 | rs17855444 | Benign |
62165 | Q9H4B4 (PLK3) | S | L | 498 | rs17880829 | Benign |
62166 | Q9H4B4 (PLK3) | S | P | 618 | rs17881786 | Benign |
62167 | Q9H4B7 (TUBB1) | Q | H | 43 | rs415064 | Benign |
62168 | Q9H4B7 (TUBB1) | Q | P | 43 | rs463312 | Benign |
62169 | Q9H4B7 (TUBB1) | T | M | 274 | rs35565630 | Benign |
62170 | Q9H4B7 (TUBB1) | R | H | 307 | rs6070697 | Benign |
62171 | Q9H4B7 (TUBB1) | R | W | 318 | rs121918555 | Disease: Macrothrombo cytopenia, autosomal dominant, TUBB1-relate d (MAD-TUBB1) [MIM:613112] |
62172 | Q9H4D0 (CLSTN2) | I | T | 331 | rs17348572 | Benign |
62173 | Q9H4D0 (CLSTN2) | V | I | 366 | rs7632885 | Benign |
62174 | Q9H4D5 (NXF3) | N | I | 186 | rs2301387 | Benign |
62175 | Q9H4E7 (DEF6) | N | T | 287 | rs2395617 | Benign |
62176 | Q9H4E7 (DEF6) | R | H | 578 | rs9296146 | Benign |
62177 | Q9H4F8 (SMOC1) | V | M | 82 | rs10150925 | Benign |
62178 | Q9H4F8 (SMOC1) | R | C | 278 | rs776638586 | Disease: Ophthalmoacr omelic syndrome (OAS) [MIM:206920] |
62179 | Q9H4F8 (SMOC1) | T | N | 283 | - | Disease: Ophthalmoacr omelic syndrome (OAS) [MIM:206920] |
62180 | Q9H4F8 (SMOC1) | R | H | 286 | rs1365818420 | Disease: Ophthalmoacr omelic syndrome (OAS) [MIM:206920] |
62181 | Q9H4G0 (EPB41L1) | P | S | 854 | - | Disease: Mental retardation, autosomal dominant 11 (MRD11) [MIM:614257] |
62182 | Q9H4G1 (CST9L) | H | P | 109 | rs2295564 | Benign |
62183 | Q9H4I0 (RAD21L1) | C | R | 90 | rs450739 | Benign |
62184 | Q9H4I0 (RAD21L1) | I | L | 152 | rs203534 | Benign |
62185 | Q9H4I0 (RAD21L1) | H | P | 423 | rs17717241 | Benign |
62186 | Q9H4I2 (ZHX3) | N | S | 310 | rs17265513 | Benign |
62187 | Q9H4I8 (SERHL2) | E | K | 3 | rs3213549 | Benign |
62188 | Q9H4I8 (SERHL2) | S | N | 46 | rs926333 | Benign |
62189 | Q9H4I8 (SERHL2) | C | R | 306 | rs137055 | Benign |
62190 | Q9H4I9 (SMDT1) | R | G | 46 | rs17852210 | Benign |
62191 | Q9H4K1 (RIBC2) | R | C | 253 | rs2142661 | Benign |
62192 | Q9H4K1 (RIBC2) | F | L | 268 | rs1022478 | Benign |
62193 | Q9H4K1 (RIBC2) | R | Q | 335 | rs2072770 | Benign |
62194 | Q9H4K7 (MTG2) | G | S | 47 | rs6062133 | Benign |
62195 | Q9H4K7 (MTG2) | H | R | 93 | rs11700220 | Benign |
62196 | Q9H4K7 (MTG2) | A | V | 337 | rs35693261 | Benign |
62197 | Q9H4L4 (SENP3) | W | R | 515 | rs9972914 | Benign |
62198 | Q9H4L5 (OSBPL3) | M | V | 354 | rs11768296 | Benign |
62199 | Q9H4L7 (SMARCAD1) | S | F | 66 | rs11723410 | Benign |
62200 | Q9H4L7 (SMARCAD1) | L | F | 135 | rs2664891 | Benign |
62201 | Q9H4L7 (SMARCAD1) | R | C | 140 | rs2632398 | Benign |
62202 | Q9H4L7 (SMARCAD1) | S | Y | 245 | rs3103117 | Benign |
62203 | Q9H4L7 (SMARCAD1) | S | N | 247 | rs11722476 | Benign |
62204 | Q9H4L7 (SMARCAD1) | V | A | 301 | rs7439869 | Benign |
62205 | Q9H4L7 (SMARCAD1) | P | Q | 351 | rs17854344 | Benign |
62206 | Q9H4L7 (SMARCAD1) | V | A | 972 | rs17857297 | Benign |
62207 | Q9H4M7 (PLEKHA4) | I | V | 37 | rs506425 | Benign |
62208 | Q9H4M7 (PLEKHA4) | R | Q | 597 | rs12460394 | Benign |
62209 | Q9H4M7 (PLEKHA4) | T | A | 714 | rs34460869 | Benign |
62210 | Q9H4M7 (PLEKHA4) | G | V | 742 | rs35965411 | Benign |
62211 | Q9H4Q4 (PRDM12) | D | Y | 31 | rs879255637 | Disease: Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488] |
62212 | Q9H4Q4 (PRDM12) | I | N | 102 | rs879255636 | Disease: Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488] |
62213 | Q9H4Q4 (PRDM12) | W | C | 160 | - | Disease: Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488] |
62214 | Q9H4Q4 (PRDM12) | R | C | 168 | rs767397937 | Disease: Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488] |
62215 | Q9H4Q4 (PRDM12) | E | D | 172 | rs755205487 | Disease: Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488] |
62216 | Q9H4Q4 (PRDM12) | H | L | 289 | rs879255638 | Disease: Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488] |
62217 | Q9H4W6 (EBF3) | N | D | 66 | rs1057519518 | Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] |
62218 | Q9H4W6 (EBF3) | Y | C | 141 | rs1057519519 | Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] |
62219 | Q9H4W6 (EBF3) | R | L | 163 | rs1057519389 | Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] |
62220 | Q9H4W6 (EBF3) | R | P | 163 | rs1057519389 | Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] |
62221 | Q9H4W6 (EBF3) | R | Q | 163 | rs1057519389 | Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] |
62222 | Q9H4W6 (EBF3) | G | D | 171 | rs1057519437 | Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] |
62223 | Q9H4W6 (EBF3) | P | L | 177 | rs869312668 | Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] |
62224 | Q9H4W6 (EBF3) | K | N | 193 | rs1057519520 | Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] |
62225 | Q9H4W6 (EBF3) | R | W | 209 | rs779003155 | Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] |
62226 | Q9H4Y5 (GSTO2) | C | Y | 130 | rs45582439 | Benign |
62227 | Q9H4Y5 (GSTO2) | N | D | 142 | rs156697 | Benign |
62228 | Q9H4Z2 (ZNF335) | R | C | 65 | rs6130982 | Benign |
62229 | Q9H4Z2 (ZNF335) | G | S | 101 | rs6094231 | Benign |
62230 | Q9H4Z2 (ZNF335) | S | T | 294 | rs6032606 | Benign |
62231 | Q9H4Z2 (ZNF335) | Y | H | 603 | rs16990961 | Benign |
62232 | Q9H4Z2 (ZNF335) | R | H | 1111 | rs397514642 | Disease: Microcephaly 10, primary, autosomal recessive (MCPH10) [MIM:615095] |
62233 | Q9H501 (ESF1) | P | L | 386 | rs6079171 | Benign |
62234 | Q9H501 (ESF1) | I | T | 550 | rs3180370 | Benign |
62235 | Q9H501 (ESF1) | I | L | 824 | rs34414644 | Benign |
62236 | Q9H503 (BANF2) | N | D | 3 | rs4814640 | Benign |
62237 | Q9H503 (BANF2) | T | S | 78 | rs1053993 | Benign |
62238 | Q9H511 (KLHL31) | N | S | 11 | rs6908377 | Benign |
62239 | Q9H511 (KLHL31) | V | I | 156 | rs3799260 | Benign |
62240 | Q9H511 (KLHL31) | A | T | 508 | rs3799261 | Benign |
62241 | Q9H553 (ALG2) | S | P | 11 | rs11545137 | Benign |
62242 | Q9H553 (ALG2) | V | G | 68 | rs730882051 | Disease: Myasthenic syndrome, congenital, 14 (CMS14) [MIM:616228] |
62243 | Q9H553 (ALG2) | V | A | 367 | rs35626507 | Benign |
62244 | Q9H568 (ACTL8) | A | S | 3 | rs694214 | Benign |
62245 | Q9H568 (ACTL8) | R | C | 245 | rs3795322 | Benign |
62246 | Q9H582 (ZNF644) | K | M | 369 | - | Benign |
62247 | Q9H582 (ZNF644) | A | T | 550 | rs754440728 | Benign |
62248 | Q9H582 (ZNF644) | M | V | 556 | rs17131242 | Benign |
62249 | Q9H582 (ZNF644) | I | V | 587 | rs146936371 | Disease: Myopia 21, autosomal dominant (MYP21) [MIM:614167] |
62250 | Q9H582 (ZNF644) | S | G | 672 | rs387907109 | Disease: Myopia 21, autosomal dominant (MYP21) [MIM:614167] |
62251 | Q9H582 (ZNF644) | R | G | 680 | - | Disease: Myopia 21, autosomal dominant (MYP21) [MIM:614167] |
62252 | Q9H582 (ZNF644) | C | Y | 699 | - | Disease: Myopia 21, autosomal dominant (MYP21) [MIM:614167] |
62253 | Q9H582 (ZNF644) | H | Y | 706 | rs908368905 | Benign |
62254 | Q9H582 (ZNF644) | K | E | 707 | rs12117237 | Benign |
62255 | Q9H582 (ZNF644) | A | V | 794 | rs10922938 | Benign |
62256 | Q9H582 (ZNF644) | R | H | 1100 | rs140271599 | Benign |
62257 | Q9H583 (HEATR1) | H | R | 348 | rs2794751 | Benign |
62258 | Q9H583 (HEATR1) | M | V | 607 | rs2794763 | Benign |
62259 | Q9H583 (HEATR1) | D | G | 957 | rs16833953 | Benign |
62260 | Q9H583 (HEATR1) | Y | C | 1433 | rs653737 | Benign |
62261 | Q9H583 (HEATR1) | S | N | 1559 | rs6661946 | Benign |
62262 | Q9H583 (HEATR1) | R | H | 1654 | rs16833884 | Benign |
62263 | Q9H583 (HEATR1) | N | S | 1694 | rs2275689 | Benign |
62264 | Q9H583 (HEATR1) | V | A | 1854 | rs1885533 | Benign |
62265 | Q9H583 (HEATR1) | N | D | 1967 | rs1126627 | Benign |
62266 | Q9H583 (HEATR1) | E | G | 2017 | rs2275687 | Benign |
62267 | Q9H583 (HEATR1) | S | L | 2077 | rs6664730 | Benign |
62268 | Q9H596 (DUSP21) | M | T | 186 | rs1045031 | Benign |
62269 | Q9H598 (SLC32A1) | S | G | 423 | rs34517228 | Benign |
62270 | Q9H5F2 (C11orf1) | V | A | 40 | rs9280 | Benign |
62271 | Q9H5F2 (C11orf1) | K | Q | 49 | rs11540721 | Benign |
62272 | Q9H5F2 (C11orf1) | Q | H | 85 | rs3180820 | Benign |
62273 | Q9H5H4 (ZNF768) | E | D | 181 | rs10871453 | Benign |
62274 | Q9H5H4 (ZNF768) | A | S | 488 | rs3751848 | Benign |
62275 | Q9H5I5 (PIEZO2) | M | V | 712 | rs587777453 | Disease: Arthrogrypos is, distal, 5 (DA5) [MIM:108145] |
62276 | Q9H5I5 (PIEZO2) | I | F | 802 | rs587777076 | Disease: Arthrogrypos is, distal, 5 (DA5) [MIM:108145] |
62277 | Q9H5I5 (PIEZO2) | V | I | 1354 | rs7234309 | Benign |
62278 | Q9H5I5 (PIEZO2) | R | P | 1685 | rs886039823 | Disease: Arthrogrypos is, distal, with impaired propriocepti on and touch (DAIPT) [MIM:617146] |
62279 | Q9H5I5 (PIEZO2) | V | I | 2463 | rs3748428 | Benign |
62280 | Q9H5I5 (PIEZO2) | R | C | 2686 | rs587777451 | Disease: Marden- Walker syndrome (MWKS) [MIM:248700] |
62281 | Q9H5I5 (PIEZO2) | R | H | 2686 | rs587777450 | Disease: Arthrogrypos is, distal, 3 (DA3) [MIM:114300] |
62282 | Q9H5I5 (PIEZO2) | R | L | 2718 | rs587777452 | Disease: Arthrogrypos is, distal, 5 (DA5) [MIM:108145] |
62283 | Q9H5I5 (PIEZO2) | R | P | 2718 | rs587777452 | Disease: Arthrogrypos is, distal, 5 (DA5) [MIM:108145] |
62284 | Q9H5I5 (PIEZO2) | S | P | 2739 | rs587777454 | Disease: Arthrogrypos is, distal, 5 (DA5) [MIM:108145] |
62285 | Q9H5J0 (ZBTB3) | I | M | 574 | rs544641 | Benign |
62286 | Q9H5K3 (POMK) | S | P | 48 | rs34466747 | Benign |
62287 | Q9H5K3 (POMK) | L | R | 137 | rs397509385 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249] |
62288 | Q9H5K3 (POMK) | Y | F | 140 | rs34750053 | Benign |
62289 | Q9H5K3 (POMK) | V | M | 254 | rs34715198 | Benign |
62290 | Q9H5K3 (POMK) | Q | R | 258 | rs397509386 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249] |
62291 | Q9H5K3 (POMK) | M | T | 301 | rs33920561 | Benign |
62292 | Q9H5K3 (POMK) | V | D | 302 | rs199756983 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249] |
62293 | Q9H5L6 (THAP9) | M | I | 284 | rs1031639 | Benign |
62294 | Q9H5L6 (THAP9) | L | F | 299 | rs897945 | Benign |
62295 | Q9H5L6 (THAP9) | N | D | 812 | rs6535411 | Benign |
62296 | Q9H5L6 (THAP9) | V | I | 833 | rs35532215 | Benign |
62297 | Q9H5P4 (PDZD7) | G | R | 103 | rs148695069 | Disease: Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003] |
62298 | Q9H5P4 (PDZD7) | G | R | 228 | rs753034799 | Disease: Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003] |
62299 | Q9H5P4 (PDZD7) | M | R | 285 | rs1554835827 | Disease: Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003] |
62300 | Q9H5Q4 (TFB2M) | S | F | 48 | rs148620105 | Benign |
62301 | Q9H5Q4 (TFB2M) | A | T | 64 | rs143880306 | Benign |
62302 | Q9H5Q4 (TFB2M) | P | L | 156 | rs11585481 | Benign |
62303 | Q9H5Q4 (TFB2M) | H | Y | 264 | rs12037377 | Benign |
62304 | Q9H5U6 (ZCCHC4) | P | L | 382 | rs3752873 | Benign |
62305 | Q9H5U6 (ZCCHC4) | L | H | 396 | rs315675 | Benign |
62306 | Q9H5V8 (CDCP1) | Q | R | 525 | rs3749191 | Benign |
62307 | Q9H5V8 (CDCP1) | A | V | 673 | rs35428731 | Benign |
62308 | Q9H5V8 (CDCP1) | D | G | 709 | rs9874077 | Benign |
62309 | Q9H5Y7 (SLITRK6) | L | F | 25 | rs12863734 | Benign |
62310 | Q9H5Y7 (SLITRK6) | P | R | 315 | rs9547378 | Benign |
62311 | Q9H5Y7 (SLITRK6) | Q | R | 414 | rs17080147 | Benign |
62312 | Q9H5Z1 (DHX35) | I | T | 189 | rs36053162 | Benign |
62313 | Q9H5Z1 (DHX35) | P | L | 703 | rs3752302 | Benign |
62314 | Q9H5Z6 (FAM124B) | I | T | 257 | rs3738954 | Benign |
62315 | Q9H607 (OCEL1) | R | L | 42 | rs10425488 | Benign |
62316 | Q9H607 (OCEL1) | A | G | 109 | rs891203 | Benign |
62317 | Q9H609 (ZNF576) | P | L | 81 | rs17849705 | Benign |
62318 | Q9H611 (PIF1) | I | N | 640 | rs17802279 | Benign |
62319 | Q9H628 (RERGL) | M | V | 163 | rs941048 | Benign |
62320 | Q9H633 (RPP21) | Q | H | 77 | rs6986 | Benign |
62321 | Q9H633 (RPP21) | Q | K | 149 | rs974963 | Benign |
62322 | Q9H649 (NSUN3) | A | V | 295 | rs17854922 | Benign |
62323 | Q9H665 (IGFLR1) | W | R | 189 | rs34562867 | Benign |
62324 | Q9H668 (STN1) | R | T | 135 | rs1057519583 | Disease: Cerebroretin al microangiopa thy with calcificatio ns and cysts 2 (CRMCC2) [MIM:617341] |
62325 | Q9H668 (STN1) | T | A | 151 | rs2487999 | Benign |
62326 | Q9H668 (STN1) | D | Y | 157 | rs765462548 | Disease: Cerebroretin al microangiopa thy with calcificatio ns and cysts 2 (CRMCC2) [MIM:617341] |
62327 | Q9H668 (STN1) | S | C | 248 | rs10786775 | Benign |
62328 | Q9H694 (BICC1) | G | D | 8 | rs7905025 | Benign |
62329 | Q9H694 (BICC1) | N | T | 711 | rs138916713 | Benign |
62330 | Q9H694 (BICC1) | E | G | 932 | rs387907124 | Disease: Renal dysplasia, cystic (CYSRD) [MIM:601331] |
62331 | Q9H694 (BICC1) | S | P | 943 | rs4948550 | Benign |
62332 | Q9H694 (BICC1) | N | S | 945 | rs7895817 | Benign |
62333 | Q9H6A0 (DENND2D) | S | N | 282 | rs35742969 | Benign |
62334 | Q9H6A9 (PCNX3) | Q | R | 258 | rs1151489 | Benign |
62335 | Q9H6A9 (PCNX3) | S | C | 458 | rs1193851 | Benign |
62336 | Q9H6A9 (PCNX3) | G | S | 564 | rs56232198 | Benign |
62337 | Q9H6A9 (PCNX3) | K | N | 813 | rs1144790 | Benign |
62338 | Q9H6A9 (PCNX3) | H | Q | 1822 | rs7114037 | Benign |
62339 | Q9H6B4 (CLMP) | R | H | 69 | rs2276348 | Benign |
62340 | Q9H6B4 (CLMP) | V | D | 124 | rs587776967 | Disease: Congenital short bowel syndrome (CSBS) [MIM:615237] |
62341 | Q9H6E5 (TUT1) | L | F | 442 | rs3197865 | Benign |
62342 | Q9H6F5 (CCDC86) | Q | H | 153 | rs2074421 | Benign |
62343 | Q9H6I2 (SOX17) | A | D | 33 | rs189384157 | Benign |
62344 | Q9H6I2 (SOX17) | G | C | 178 | rs267607082 | Disease: Vesicoureter al reflux 3 (VUR3) [MIM:613674] |
62345 | Q9H6I2 (SOX17) | Y | N | 259 | rs267607083 | Disease: Vesicoureter al reflux 3 (VUR3) [MIM:613674] |
62346 | Q9H6K4 (OPA3) | G | S | 93 | rs80356524 | Disease: Optic atrophy 3 (OPA3) [MIM:165300] |
62347 | Q9H6K4 (OPA3) | Q | E | 105 | rs80356525 | Disease: Optic atrophy 3 (OPA3) [MIM:165300] |
62348 | Q9H6L2 (TMEM231) | L | V | 6 | rs3743601 | Benign |
62349 | Q9H6L2 (TMEM231) | D | N | 209 | rs200799769 | Disease: Joubert syndrome 20 (JBTS20) [MIM:614970] |
62350 | Q9H6L2 (TMEM231) | Q | P | 272 | rs397514754 | Disease: Meckel syndrome 11 (MKS11) [MIM:615397] |
62351 | Q9H6L5 (RETREG1) | Q | E | 379 | rs34432513 | Benign |
62352 | Q9H6Q3 (SLA2) | V | M | 210 | rs34834764 | Benign |
62353 | Q9H6Q4 (CIAO3) | V | M | 38 | rs8045850 | Benign |
62354 | Q9H6Q4 (CIAO3) | H | R | 444 | rs7188554 | Benign |
62355 | Q9H6R0 (DHX33) | R | C | 118 | rs8069315 | Benign |
62356 | Q9H6R0 (DHX33) | H | D | 483 | rs11653658 | Benign |
62357 | Q9H6R4 (NOL6) | P | S | 52 | rs10971523 | Benign |
62358 | Q9H6R4 (NOL6) | R | W | 723 | rs35135082 | Benign |
62359 | Q9H6R6 (ZDHHC6) | D | N | 41 | rs34350728 | Benign |
62360 | Q9H6R7 (WDCP) | T | M | 102 | rs3731620 | Benign |
62361 | Q9H6S0 (YTHDC2) | S | N | 652 | rs10071816 | Benign |
62362 | Q9H6S0 (YTHDC2) | L | Q | 1409 | rs1132528 | Benign |
62363 | Q9H6T0 (ESRP2) | S | L | 111 | rs12597504 | Benign |
62364 | Q9H6T0 (ESRP2) | A | V | 528 | rs3743738 | Benign |
62365 | Q9H6T0 (ESRP2) | P | S | 627 | rs36054935 | Benign |
62366 | Q9H6T3 (RPAP3) | D | Y | 564 | rs11168196 | Benign |
62367 | Q9H6U6 (BCAS3) | N | S | 87 | rs2643103 | Benign |
62368 | Q9H6U6 (BCAS3) | I | V | 106 | rs34712615 | Benign |
62369 | Q9H6U8 (ALG9) | A | P | 232 | rs36111204 | Benign |
62370 | Q9H6U8 (ALG9) | S | L | 255 | rs17113312 | Benign |
62371 | Q9H6U8 (ALG9) | Y | C | 287 | rs121908023 | Disease: Congenital disorder of glycosylatio n 1L (CDG1L) [MIM:608776] |
62372 | Q9H6U8 (ALG9) | V | I | 289 | rs10502151 | Benign |
62373 | Q9H6U8 (ALG9) | P | L | 506 | rs185149177 | Benign |
62374 | Q9H6U8 (ALG9) | E | K | 523 | rs121908022 | Disease: Congenital disorder of glycosylatio n 1L (CDG1L) [MIM:608776] |
62375 | Q9H6U8 (ALG9) | I | S | 528 | rs12575909 | Benign |
62376 | Q9H6W3 (RIOX1) | K | R | 17 | rs10144469 | Benign |
62377 | Q9H6W3 (RIOX1) | F | S | 218 | rs758109 | Benign |
62378 | Q9H6W3 (RIOX1) | Q | H | 239 | rs34970526 | Benign |
62379 | Q9H6W3 (RIOX1) | V | A | 364 | rs3813563 | Benign |
62380 | Q9H6X2 (ANTXR1) | R | K | 7 | rs28365986 | Benign |
62381 | Q9H6X2 (ANTXR1) | A | T | 326 | rs119475040 | Benign |
62382 | Q9H6Y2 (WDR55) | R | C | 50 | rs34342435 | Benign |
62383 | Q9H6Y2 (WDR55) | C | R | 151 | rs2530245 | Benign |
62384 | Q9H6Y2 (WDR55) | S | F | 210 | rs2286394 | Benign |
62385 | Q9H6Y2 (WDR55) | Y | C | 235 | rs35983033 | Benign |
62386 | Q9H6Y5 (MAGIX) | R | H | 53 | rs5906744 | Benign |
62387 | Q9H6Y5 (MAGIX) | R | H | 112 | rs5906744 | Benign |
62388 | Q9H6Y5 (MAGIX) | L | V | 173 | rs5905720 | Benign |
62389 | Q9H6Y5 (MAGIX) | L | F | 323 | rs4824462 | Benign |
62390 | Q9H6Y7 (RNF167) | N | K | 121 | rs1127356 | Benign |
62391 | Q9H6Z4 (RANBP3) | A | V | 314 | rs10417885 | Benign |
62392 | Q9H6Z9 (EGLN3) | V | L | 136 | rs17102002 | Benign |
62393 | Q9H6Z9 (EGLN3) | S | T | 234 | rs17101995 | Benign |
62394 | Q9H706 (GAREM1) | T | N | 243 | rs671138 | Benign |
62395 | Q9H706 (GAREM1) | K | R | 291 | rs3744921 | Benign |
62396 | Q9H706 (GAREM1) | A | V | 490 | rs16962974 | Benign |
62397 | Q9H706 (GAREM1) | V | I | 580 | rs3891458 | Benign |
62398 | Q9H706 (GAREM1) | T | M | 720 | rs2276374 | Benign |
62399 | Q9H707 (ZNF552) | W | C | 242 | rs2288538 | Benign |
62400 | Q9H714 (RUBCNL) | G | R | 152 | rs1408184 | Benign |
62401 | Q9H720 (CWH43) | P | T | 2 | rs3747690 | Benign |
62402 | Q9H720 (CWH43) | H | N | 689 | rs1051447 | Benign |
62403 | Q9H741 (SPRING) | Q | R | 55 | rs10507274 | Benign |
62404 | Q9H772 (GREM2) | A | V | 13 | rs373941682 | Disease: Tooth agenesis, selective, 9 (STHAG9) [MIM:617275] |
62405 | Q9H772 (GREM2) | Q | E | 76 | rs142343894 | Disease: Tooth agenesis, selective, 9 (STHAG9) [MIM:617275] |
62406 | Q9H772 (GREM2) | V | I | 131 | rs34188522 | Benign |
62407 | Q9H772 (GREM2) | E | D | 136 | rs1057519288 | Disease: Tooth agenesis, selective, 9 (STHAG9) [MIM:617275] |
62408 | Q9H777 (ELAC1) | M | V | 355 | rs34524743 | Benign |
62409 | Q9H788 (SH2D4A) | E | G | 209 | rs35647122 | Benign |
62410 | Q9H788 (SH2D4A) | E | G | 216 | rs4921637 | Benign |
62411 | Q9H788 (SH2D4A) | G | A | 263 | rs877386 | Benign |
62412 | Q9H788 (SH2D4A) | S | N | 275 | rs34608771 | Benign |
62413 | Q9H790 (EXO5) | D | N | 115 | rs1134586 | Benign |
62414 | Q9H790 (EXO5) | G | V | 172 | rs11208299 | Benign |
62415 | Q9H792 (PEAK1) | G | R | 213 | rs35459975 | Benign |
62416 | Q9H792 (PEAK1) | V | I | 240 | rs56129428 | Benign |
62417 | Q9H792 (PEAK1) | S | P | 440 | rs35335169 | Benign |
62418 | Q9H792 (PEAK1) | S | I | 792 | rs34885462 | Benign |
62419 | Q9H792 (PEAK1) | D | E | 836 | rs56388121 | Benign |
62420 | Q9H792 (PEAK1) | R | K | 1071 | rs12909704 | Benign |
62421 | Q9H792 (PEAK1) | T | P | 1077 | rs56133554 | Benign |
62422 | Q9H792 (PEAK1) | P | Q | 1408 | rs56079860 | Benign |
62423 | Q9H792 (PEAK1) | S | T | 1542 | rs1867780 | Benign |
62424 | Q9H792 (PEAK1) | R | G | 1699 | rs34004337 | Benign |
62425 | Q9H799 (CPLANE1) | W | G | 322 | - | Benign |
62426 | Q9H799 (CPLANE1) | S | F | 875 | rs794727154 | Benign |
62427 | Q9H799 (CPLANE1) | S | L | 1127 | rs375009168 | Disease: Orofaciodigi tal syndrome 6 (OFD6) [MIM:277170] |
62428 | Q9H799 (CPLANE1) | R | C | 1184 | rs1434631255 | Disease: Orofaciodigi tal syndrome 6 (OFD6) [MIM:277170] |
62429 | Q9H799 (CPLANE1) | R | C | 1193 | rs149170427 | Disease: Orofaciodigi tal syndrome 6 (OFD6) [MIM:277170] |
62430 | Q9H799 (CPLANE1) | L | R | 1196 | - | Benign |
62431 | Q9H799 (CPLANE1) | D | H | 1287 | rs606231261 | Disease: Orofaciodigi tal syndrome 6 (OFD6) [MIM:277170] |
62432 | Q9H799 (CPLANE1) | R | W | 1336 | rs367543061 | Disease: Joubert syndrome 17 (JBTS17) [MIM:614615] |
62433 | Q9H799 (CPLANE1) | Q | R | 1345 | rs869312898 | Disease: Orofaciodigi tal syndrome 6 (OFD6) [MIM:277170] |
62434 | Q9H799 (CPLANE1) | I | T | 1437 | rs6859950 | Benign |
62435 | Q9H799 (CPLANE1) | S | G | 1772 | rs79377186 | Benign |
62436 | Q9H799 (CPLANE1) | P | L | 1794 | rs75589774 | Benign |
62437 | Q9H799 (CPLANE1) | F | C | 2033 | rs10076911 | Benign |
62438 | Q9H799 (CPLANE1) | F | S | 2033 | rs10076911 | Benign |
62439 | Q9H799 (CPLANE1) | I | V | 2143 | rs6884652 | Benign |
62440 | Q9H799 (CPLANE1) | P | L | 2592 | rs16903518 | Benign |
62441 | Q9H799 (CPLANE1) | P | S | 2750 | rs377107065 | Benign |
62442 | Q9H799 (CPLANE1) | V | L | 2837 | - | Disease: Orofaciodigi tal syndrome 6 (OFD6) [MIM:277170] |
62443 | Q9H799 (CPLANE1) | G | R | 3062 | rs7702892 | Benign |
62444 | Q9H7B2 (RPF2) | A | G | 41 | rs9320350 | Benign |
62445 | Q9H7B2 (RPF2) | G | S | 60 | rs6909298 | Benign |
62446 | Q9H7B7 (C7orf69) | K | E | 32 | rs9719534 | Benign |
62447 | Q9H7C9 (AAMDC) | V | M | 92 | rs2186564 | Benign |
62448 | Q9H7D0 (DOCK5) | Q | R | 250 | rs17053341 | Benign |
62449 | Q9H7D0 (DOCK5) | Q | R | 1023 | rs2271111 | Benign |
62450 | Q9H7D0 (DOCK5) | K | R | 1285 | rs2659585 | Benign |
62451 | Q9H7D0 (DOCK5) | E | K | 1836 | rs35688737 | Benign |
62452 | Q9H7H0 (METTL17) | A | S | 173 | rs72661115 | Benign |
62453 | Q9H7H0 (METTL17) | G | A | 289 | rs2297717 | Benign |
62454 | Q9H7H0 (METTL17) | A | P | 346 | rs2771350 | Benign |
62455 | Q9H7M9 (VSIR) | D | E | 187 | rs3747869 | Benign |
62456 | Q9H7N4 (SCAF1) | T | A | 895 | rs3745470 | Benign |
62457 | Q9H7N4 (SCAF1) | M | T | 1146 | rs2304208 | Benign |
62458 | Q9H7P9 (PLEKHG2) | R | W | 204 | rs201201843 | Disease: Leukodystrop hy and acquired microcephaly with or without dystonia (LDAMD) [MIM:616763] |
62459 | Q9H7P9 (PLEKHG2) | T | I | 540 | rs35904695 | Benign |
62460 | Q9H7P9 (PLEKHG2) | I | V | 622 | rs16973407 | Benign |
62461 | Q9H7P9 (PLEKHG2) | R | H | 647 | rs10407035 | Benign |
62462 | Q9H7P9 (PLEKHG2) | R | K | 992 | rs31726 | Benign |
62463 | Q9H7P9 (PLEKHG2) | A | T | 1302 | rs34603507 | Benign |
62464 | Q9H7P9 (PLEKHG2) | P | A | 1329 | rs31728 | Benign |
62465 | Q9H7R0 (ZNF442) | I | V | 93 | rs10423273 | Benign |
62466 | Q9H7R0 (ZNF442) | P | T | 110 | rs10415207 | Benign |
62467 | Q9H7R0 (ZNF442) | G | R | 422 | rs11085808 | Benign |
62468 | Q9H7R0 (ZNF442) | R | C | 443 | rs10500210 | Benign |
62469 | Q9H7R5 (ZNF665) | V | A | 84 | rs12460170 | Benign |
62470 | Q9H7R5 (ZNF665) | H | R | 157 | rs4801959 | Benign |
62471 | Q9H7R5 (ZNF665) | V | I | 647 | rs4801958 | Benign |
62472 | Q9H7T0 (CATSPERB) | F | Y | 318 | rs57706558 | Benign |
62473 | Q9H7T9 (AUNIP) | K | T | 82 | rs34449716 | Benign |
62474 | Q9H7U1 (CCSER2) | N | S | 84 | rs3814205 | Benign |
62475 | Q9H7U1 (CCSER2) | C | Y | 755 | rs11201058 | Benign |
62476 | Q9H7U1 (CCSER2) | S | P | 819 | rs11557865 | Benign |
62477 | Q9H7U1 (CCSER2) | P | S | 821 | rs12569751 | Benign |
62478 | Q9H7V2 (SYNDIG1) | G | R | 54 | rs6083553 | Benign |
62479 | Q9H7X0 (NAA60) | H | Q | 218 | rs34464545 | Benign |
62480 | Q9H7Y0 (DIPK2B) | R | K | 128 | rs1132201 | Benign |
62481 | Q9H7Y0 (DIPK2B) | R | Q | 146 | rs9969 | Benign |
62482 | Q9H7Z3 (NRDE2) | C | F | 32 | rs7140914 | Benign |
62483 | Q9H7Z3 (NRDE2) | E | K | 928 | rs59039343 | Benign |
62484 | Q9H7Z3 (NRDE2) | N | S | 1118 | rs3737035 | Benign |
62485 | Q9H7Z7 (PTGES2) | R | H | 298 | rs13283456 | Benign |
62486 | Q9H808 (TLE6) | S | Y | 510 | rs767222404 | Disease: Preimplantat ion embryonic lethality 1 (PREMBL1) [MIM:616814] |
62487 | Q9H814 (PHAX) | R | C | 82 | rs3734173 | Benign |
62488 | Q9H816 (DCLRE1B) | R | L | 46 | rs28381069 | Benign |
62489 | Q9H816 (DCLRE1B) | H | Y | 61 | rs11552449 | Benign |
62490 | Q9H816 (DCLRE1B) | D | N | 462 | rs28381079 | Benign |
62491 | Q9H816 (DCLRE1B) | N | Y | 510 | rs35397235 | Benign |
62492 | Q9H845 (ACAD9) | F | I | 44 | rs387907041 | Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] |
62493 | Q9H845 (ACAD9) | R | K | 127 | - | Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] |
62494 | Q9H845 (ACAD9) | A | V | 220 | - | Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] |
62495 | Q9H845 (ACAD9) | R | Q | 266 | rs387907042 | Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] |
62496 | Q9H845 (ACAD9) | C | G | 271 | - | Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] |
62497 | Q9H845 (ACAD9) | V | M | 384 | rs1447947184 | Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] |
62498 | Q9H845 (ACAD9) | R | C | 414 | rs777282696 | Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] |
62499 | Q9H845 (ACAD9) | R | C | 417 | rs368949613 | Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] |
62500 | Q9H845 (ACAD9) | R | W | 469 | rs139145143 | Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] |
62501 | Q9H845 (ACAD9) | R | Q | 477 | rs4494951 | Benign |
62502 | Q9H845 (ACAD9) | R | H | 518 | rs781149699 | Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] |
62503 | Q9H845 (ACAD9) | R | W | 532 | rs377022708 | Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] |
62504 | Q9H845 (ACAD9) | L | H | 606 | - | Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] |
62505 | Q9H857 (NT5DC2) | S | R | 91 | rs35920544 | Benign |
62506 | Q9H867 (VCPKMT) | A | D | 63 | rs11157729 | Benign |
62507 | Q9H869 (YY1AP1) | G | S | 412 | rs35098429 | Benign |
62508 | Q9H869 (YY1AP1) | E | Q | 786 | rs7539 | Benign |
62509 | Q9H875 (PRKRIP1) | S | A | 7 | rs6951185 | Benign |
62510 | Q9H875 (PRKRIP1) | D | Y | 106 | rs11556160 | Benign |
62511 | Q9H892 (TTC12) | M | L | 73 | rs723077 | Benign |
62512 | Q9H892 (TTC12) | M | L | 468 | rs35852218 | Benign |
62513 | Q9H892 (TTC12) | V | A | 563 | rs35303225 | Benign |
62514 | Q9H898 (ZMAT4) | T | A | 201 | rs17851751 | Benign |
62515 | Q9H8E8 (KAT14) | P | L | 214 | rs6081011 | Benign |
62516 | Q9H8E8 (KAT14) | V | G | 400 | rs1205193 | Benign |
62517 | Q9H8E8 (KAT14) | R | T | 442 | rs2295182 | Benign |
62518 | Q9H8E8 (KAT14) | P | R | 600 | rs11557577 | Benign |
62519 | Q9H8E8 (KAT14) | A | S | 738 | rs6081027 | Benign |
62520 | Q9H8G2 (CAAP1) | V | M | 233 | rs12342214 | Benign |
62521 | Q9H8H0 (NOL11) | V | A | 115 | rs2291284 | Benign |
62522 | Q9H8H2 (DDX31) | E | K | 153 | rs17402080 | Benign |
62523 | Q9H8H2 (DDX31) | R | Q | 687 | rs34246652 | Benign |
62524 | Q9H8H2 (DDX31) | I | V | 799 | rs306547 | Benign |
62525 | Q9H8H2 (DDX31) | R | Q | 843 | rs306548 | Benign |
62526 | Q9H8H3 (METTL7A) | A | T | 134 | rs28372674 | Benign |
62527 | Q9H8J5 (MANSC1) | V | I | 55 | rs3741798 | Benign |
62528 | Q9H8J5 (MANSC1) | L | V | 141 | rs34668262 | Benign |
62529 | Q9H8J5 (MANSC1) | D | N | 165 | rs17375215 | Benign |
62530 | Q9H8J5 (MANSC1) | N | Y | 375 | rs3741803 | Benign |
62531 | Q9H8L6 (MMRN2) | G | S | 49 | rs3750823 | Benign |
62532 | Q9H8L6 (MMRN2) | H | D | 731 | rs4934281 | Benign |
62533 | Q9H8L6 (MMRN2) | S | R | 831 | rs36073867 | Benign |
62534 | Q9H8L6 (MMRN2) | V | L | 910 | rs34587013 | Benign |
62535 | Q9H8M1 (COQ10B) | L | F | 48 | rs34946819 | Benign |
62536 | Q9H8M2 (BRD9) | A | T | 170 | rs34292369 | Benign |
62537 | Q9H8M2 (BRD9) | A | T | 266 | rs34292369 | Benign |
62538 | Q9H8M2 (BRD9) | A | T | 389 | rs414349 | Benign |
62539 | Q9H8M5 (CNNM2) | R | Q | 38 | rs76057237 | Benign |
62540 | Q9H8M5 (CNNM2) | E | K | 122 | rs786205909 | Disease: Hypomagnesem ia, seizures, and mental retardation 1 (HOMGSMR1) [MIM:616418] |
62541 | Q9H8M5 (CNNM2) | S | W | 269 | rs794726858 | Disease: Hypomagnesem ia, seizures, and mental retardation 1 (HOMGSMR1) [MIM:616418] |
62542 | Q9H8M5 (CNNM2) | L | F | 330 | - | Disease: Hypomagnesem ia, seizures, and mental retardation 1 (HOMGSMR1) [MIM:616418] |
62543 | Q9H8M5 (CNNM2) | E | K | 357 | rs786205910 | Disease: Hypomagnesem ia, seizures, and mental retardation 1 (HOMGSMR1) [MIM:616418] |
62544 | Q9H8M5 (CNNM2) | T | I | 568 | rs387906975 | Disease: Hypomagnesem ia 6 (HOMG6) [MIM:613882] |
62545 | Q9H8M9 (EVA1A) | R | H | 150 | rs11126472 | Benign |
62546 | Q9H8V3 (ECT2) | S | T | 15 | rs34703432 | Benign |
62547 | Q9H8W5 (TRIM45) | R | Q | 353 | rs34863850 | Benign |
62548 | Q9H8W5 (TRIM45) | C | Y | 375 | rs749902 | Benign |
62549 | Q9H8W5 (TRIM45) | R | Q | 413 | rs3738413 | Benign |
62550 | Q9H8W5 (TRIM45) | M | T | 496 | rs1289658 | Benign |
62551 | Q9H8X2 (IPPK) | R | W | 277 | rs2277168 | Benign |
62552 | Q9H8X2 (IPPK) | L | F | 376 | rs2277170 | Benign |
62553 | Q9H8X3 (LINC00574) | S | C | 27 | rs6926145 | Benign |
62554 | Q9H8X3 (LINC00574) | W | R | 91 | rs1078211 | Benign |
62555 | Q9H8X3 (LINC00574) | K | R | 119 | rs1078208 | Benign |
62556 | Q9H8X9 (ZDHHC11) | L | S | 325 | rs2878468 | Benign |
62557 | Q9H8X9 (ZDHHC11) | R | Q | 341 | rs1809008 | Benign |
62558 | Q9H8X9 (ZDHHC11) | R | H | 372 | rs3747738 | Benign |
62559 | Q9H8Y1 (VRTN) | L | F | 53 | rs2232032 | Benign |
62560 | Q9H8Y5 (ANKZF1) | R | W | 569 | rs2293076 | Benign |
62561 | Q9H8Y5 (ANKZF1) | Q | P | 638 | - | Benign |
62562 | Q9H8Y5 (ANKZF1) | P | L | 676 | rs2293079 | Benign |
62563 | Q9H8Y8 (GORASP2) | S | F | 432 | rs3770436 | Benign |
62564 | Q9H900 (ZWILCH) | S | G | 344 | rs11071896 | Benign |
62565 | Q9H902 (REEP1) | P | L | 19 | - | Disease: Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250] |
62566 | Q9H902 (REEP1) | P | R | 19 | rs1060503496 | Disease: Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250] |
62567 | Q9H902 (REEP1) | A | E | 20 | rs121918262 | Disease: Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250] |
62568 | Q9H902 (REEP1) | S | F | 23 | - | Disease: Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250] |
62569 | Q9H902 (REEP1) | W | R | 42 | - | Disease: Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250] |
62570 | Q9H902 (REEP1) | L | P | 107 | - | Disease: Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250] |
62571 | Q9H930 (SP140L) | M | T | 88 | rs4973318 | Benign |
62572 | Q9H930 (SP140L) | T | M | 225 | rs28497362 | Benign |
62573 | Q9H930 (SP140L) | P | S | 377 | rs7590429 | Benign |
62574 | Q9H936 (SLC25A22) | P | L | 206 | rs121918334 | Disease: Epileptic encephalopat hy, early infantile, 3 (EIEE3) [MIM:609304] |
62575 | Q9H939 (PSTPIP2) | N | D | 322 | rs2276199 | Benign |
62576 | Q9H939 (PSTPIP2) | N | S | 322 | rs16978507 | Benign |
62577 | Q9H967 (WDR76) | S | A | 153 | rs678084 | Benign |
62578 | Q9H967 (WDR76) | S | G | 614 | rs3742985 | Benign |
62579 | Q9H972 (C14orf93) | A | V | 190 | rs3829409 | Benign |
62580 | Q9H981 (ACTR8) | T | I | 56 | rs3733082 | Benign |
62581 | Q9H987 (SYNPO2L) | P | H | 508 | rs57006992 | Benign |
62582 | Q9H987 (SYNPO2L) | P | L | 707 | rs3812629 | Benign |
62583 | Q9H987 (SYNPO2L) | S | Y | 833 | rs34163229 | Benign |
62584 | Q9H992 (MARCHF7) | T | S | 100 | rs17813964 | Benign |
62585 | Q9H992 (MARCHF7) | T | I | 193 | rs16844275 | Benign |
62586 | Q9H992 (MARCHF7) | G | S | 379 | rs13024801 | Benign |
62587 | Q9H993 (ARMT1) | K | N | 73 | rs35036943 | Benign |
62588 | Q9H993 (ARMT1) | P | R | 77 | rs17850732 | Benign |
62589 | Q9H993 (ARMT1) | G | E | 150 | rs35734927 | Benign |
62590 | Q9H993 (ARMT1) | S | A | 154 | rs34437617 | Benign |
62591 | Q9H993 (ARMT1) | H | P | 161 | rs36037706 | Benign |
62592 | Q9H993 (ARMT1) | I | V | 264 | rs35989216 | Benign |
62593 | Q9H993 (ARMT1) | A | T | 317 | rs35972078 | Benign |
62594 | Q9H9A5 (CNOT10) | T | S | 348 | rs11558687 | Benign |
62595 | Q9H9A5 (CNOT10) | P | S | 736 | rs17849684 | Benign |
62596 | Q9H9A6 (LRRC40) | Q | P | 53 | rs270495 | Benign |
62597 | Q9H9A6 (LRRC40) | I | V | 500 | rs3180401 | Benign |
62598 | Q9H9A7 (RMI1) | Y | H | 100 | rs17855932 | Benign |
62599 | Q9H9A7 (RMI1) | N | S | 455 | rs1982151 | Benign |
62600 | Q9H9B1 (EHMT1) | A | T | 388 | rs11137198 | Benign |
62601 | Q9H9B1 (EHMT1) | C | Y | 1075 | - | Disease: Kleefstra syndrome 1 (KLEFS1) [MIM:610253] |
62602 | Q9H9B4 (SFXN1) | N | S | 26 | rs17065105 | Benign |
62603 | Q9H9B4 (SFXN1) | P | S | 266 | rs34907038 | Benign |
62604 | Q9H9D4 (ZNF408) | R | P | 337 | rs36017347 | Benign |
62605 | Q9H9D4 (ZNF408) | H | Y | 455 | rs373273223 | Disease: Vitreoretino pathy, exudative 6 (EVR6) [MIM:616468] |
62606 | Q9H9D4 (ZNF408) | G | R | 492 | rs561740128 | Benign |
62607 | Q9H9D4 (ZNF408) | R | C | 541 | rs781192528 | Disease: Retinitis pigmentosa 72 (RP72) [MIM:616469] |
62608 | Q9H9D4 (ZNF408) | Q | K | 583 | - | Benign |
62609 | Q9H9E3 (COG4) | T | I | 158 | rs3931036 | Benign |
62610 | Q9H9E3 (COG4) | G | R | 512 | rs1555575860 | Disease: Saul-Wilson syndrome (SWILS) [MIM:618150] |
62611 | Q9H9E3 (COG4) | R | W | 729 | - | Disease: Congenital disorder of glycosylatio n 2J (CDG2J) [MIM:613489] |
62612 | Q9H9F9 (ACTR5) | R | L | 298 | rs17853829 | Benign |
62613 | Q9H9F9 (ACTR5) | I | L | 461 | rs35805905 | Benign |
62614 | Q9H9F9 (ACTR5) | I | V | 483 | rs2245231 | Benign |
62615 | Q9H9F9 (ACTR5) | P | L | 580 | rs3752289 | Benign |
62616 | Q9H9J2 (MRPL44) | T | I | 138 | rs11546406 | Benign |
62617 | Q9H9J2 (MRPL44) | L | R | 156 | rs143697995 | Disease: Combined oxidative phosphorylat ion deficiency 16 (COXPD16) [MIM:615395] |
62618 | Q9H9J4 (USP42) | L | P | 1030 | rs6463529 | Benign |
62619 | Q9H9L3 (ISG20L2) | N | S | 130 | rs3795737 | Benign |
62620 | Q9H9L4 (KANSL2) | N | S | 313 | rs17238800 | Benign |
62621 | Q9H9L4 (KANSL2) | P | T | 445 | rs3741628 | Benign |
62622 | Q9H9P8 (L2HGDH) | L | R | 18 | rs2275591 | Benign |
62623 | Q9H9P8 (L2HGDH) | R | S | 33 | rs35710558 | Benign |
62624 | Q9H9P8 (L2HGDH) | G | D | 55 | rs118204021 | Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792] |
62625 | Q9H9P8 (L2HGDH) | G | R | 57 | rs199690954 | Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792] |
62626 | Q9H9P8 (L2HGDH) | K | E | 81 | rs970541687 | Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792] |
62627 | Q9H9P8 (L2HGDH) | H | R | 98 | rs267607206 | Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792] |
62628 | Q9H9P8 (L2HGDH) | H | Y | 98 | - | Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792] |
62629 | Q9H9P8 (L2HGDH) | E | D | 176 | - | Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792] |
62630 | Q9H9P8 (L2HGDH) | Y | F | 178 | rs770542189 | Benign |
62631 | Q9H9P8 (L2HGDH) | P | L | 302 | rs118204020 | Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792] |
62632 | Q9H9P8 (L2HGDH) | H | P | 434 | rs750044734 | Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792] |
62633 | Q9H9Q4 (NHEJ1) | A | T | 14 | rs34689457 | Benign |
62634 | Q9H9Q4 (NHEJ1) | R | G | 57 | rs118204451 | Disease: Severe combined immunodefici ency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291] |
62635 | Q9H9Q4 (NHEJ1) | H | R | 89 | rs1056296 | Benign |
62636 | Q9H9Q4 (NHEJ1) | C | R | 123 | rs118204452 | Disease: Severe combined immunodefici ency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291] |
62637 | Q9H9Q4 (NHEJ1) | Q | L | 256 | rs35270667 | Benign |
62638 | Q9H9S0 (NANOG) | K | N | 82 | rs2889551 | Benign |
62639 | Q9H9S5 (FKRP) | R | W | 54 | rs28937905 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62640 | Q9H9S5 (FKRP) | V | M | 79 | rs104894683 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62641 | Q9H9S5 (FKRP) | R | W | 134 | rs104894690 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62642 | Q9H9S5 (FKRP) | R | S | 143 | rs148206382 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62643 | Q9H9S5 (FKRP) | V | F | 160 | - | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62644 | Q9H9S5 (FKRP) | Y | C | 182 | rs543163491 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62645 | Q9H9S5 (FKRP) | P | T | 217 | - | Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612] |
62646 | Q9H9S5 (FKRP) | S | R | 221 | rs28937902 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612] |
62647 | Q9H9S5 (FKRP) | L | I | 276 | rs28937900 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62648 | Q9H9S5 (FKRP) | T | I | 293 | - | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62649 | Q9H9S5 (FKRP) | V | A | 300 | rs104894691 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62650 | Q9H9S5 (FKRP) | V | M | 300 | rs563033008 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62651 | Q9H9S5 (FKRP) | Y | N | 307 | rs104894692 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62652 | Q9H9S5 (FKRP) | Y | C | 309 | rs104894679 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612] |
62653 | Q9H9S5 (FKRP) | R | C | 312 | - | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62654 | Q9H9S5 (FKRP) | T | M | 314 | rs398124395 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62655 | Q9H9S5 (FKRP) | P | T | 315 | - | Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612] |
62656 | Q9H9S5 (FKRP) | P | R | 316 | rs752582904 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62657 | Q9H9S5 (FKRP) | P | S | 316 | rs28937901 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62658 | Q9H9S5 (FKRP) | C | Y | 318 | rs104894684 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153] |
62659 | Q9H9S5 (FKRP) | Y | S | 328 | - | Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612] |
62660 | Q9H9S5 (FKRP) | R | H | 339 | - | Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612] |
62661 | Q9H9S5 (FKRP) | R | L | 339 | rs1450841129 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62662 | Q9H9S5 (FKRP) | P | L | 358 | rs143031195 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62663 | Q9H9S5 (FKRP) | D | N | 360 | rs770195088 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62664 | Q9H9S5 (FKRP) | D | N | 401 | rs1555739117 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612] |
62665 | Q9H9S5 (FKRP) | V | L | 405 | rs28937904 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612] |
62666 | Q9H9S5 (FKRP) | P | L | 448 | rs104894681 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612] |
62667 | Q9H9S5 (FKRP) | A | D | 455 | rs28937903 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612] |
62668 | Q9H9S5 (FKRP) | P | S | 462 | rs768606230 | Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155] |
62669 | Q9H9S5 (FKRP) | N | D | 463 | rs121908110 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612] |
62670 | Q9H9S5 (FKRP) | Y | S | 465 | rs1057520772 | Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612] |
62671 | Q9H9V9 (JMJD4) | A | V | 11 | rs7419238 | Benign |
62672 | Q9H9V9 (JMJD4) | G | C | 16 | rs34560898 | Benign |
62673 | Q9H9V9 (JMJD4) | D | E | 65 | rs2295994 | Benign |
62674 | Q9H9V9 (JMJD4) | A | V | 461 | rs3087908 | Benign |
62675 | Q9H9Y2 (RPF1) | S | G | 9 | rs2292191 | Benign |
62676 | Q9H9Y2 (RPF1) | M | I | 223 | rs7528067 | Benign |
62677 | Q9H9Y4 (GPN2) | Q | R | 227 | rs17856257 | Benign |
62678 | Q9H9Y4 (GPN2) | R | G | 264 | rs3170660 | Benign |
62679 | Q9H9Y6 (POLR1B) | S | L | 295 | rs1545133 | Benign |
62680 | Q9H9Y6 (POLR1B) | H | R | 887 | - | Benign |
62681 | Q9HA64 (FN3KRP) | A | V | 57 | rs3748811 | Benign |
62682 | Q9HA65 (TBC1D17) | D | G | 84 | rs8109661 | Benign |
62683 | Q9HA65 (TBC1D17) | L | P | 99 | rs3745486 | Benign |
62684 | Q9HA72 (CALHM2) | V | G | 136 | rs2232660 | Benign |
62685 | Q9HA72 (CALHM2) | V | M | 194 | rs2232662 | Benign |
62686 | Q9HA77 (CARS2) | P | L | 251 | rs557671802 | Disease: Combined oxidative phosphorylat ion deficiency 27 (COXPD27) [MIM:616672] |
62687 | Q9HA77 (CARS2) | E | K | 440 | rs965189 | Benign |
62688 | Q9HA77 (CARS2) | Q | P | 555 | rs1043886 | Benign |
62689 | Q9HA82 (CERS4) | R | Q | 119 | rs17159388 | Benign |
62690 | Q9HA82 (CERS4) | G | S | 301 | rs2288413 | Benign |
62691 | Q9HA82 (CERS4) | A | V | 353 | rs17160348 | Benign |
62692 | Q9HA82 (CERS4) | A | T | 366 | rs36259 | Benign |
62693 | Q9HA82 (CERS4) | R | Q | 379 | rs17160349 | Benign |
62694 | Q9HA90 (EFCC1) | R | Q | 528 | rs3732430 | Benign |
62695 | Q9HA92 (RSAD1) | A | T | 119 | rs2290862 | Benign |
62696 | Q9HA92 (RSAD1) | L | S | 126 | rs2290861 | Benign |
62697 | Q9HA92 (RSAD1) | E | Q | 354 | rs9891176 | Benign |
62698 | Q9HAB3 (SLC52A2) | W | S | 31 | rs797045199 | Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] |
62699 | Q9HAB3 (SLC52A2) | S | F | 52 | rs397514657 | Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] |
62700 | Q9HAB3 (SLC52A2) | L | P | 123 | rs397514538 | Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] |
62701 | Q9HAB3 (SLC52A2) | P | T | 141 | rs377740960 | Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] |
62702 | Q9HAB3 (SLC52A2) | A | D | 284 | rs398123067 | Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] |
62703 | Q9HAB3 (SLC52A2) | Y | C | 305 | rs398123068 | Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] |
62704 | Q9HAB3 (SLC52A2) | G | R | 306 | rs398124641 | Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] |
62705 | Q9HAB3 (SLC52A2) | L | P | 312 | rs754320812 | Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] |
62706 | Q9HAB3 (SLC52A2) | L | P | 339 | rs148234606 | Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] |
62707 | Q9HAB3 (SLC52A2) | G | S | 419 | rs397514658 | Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] |
62708 | Q9HAB8 (PPCS) | A | P | 180 | - | Disease: Cardiomyopat hy, dilated 2C (CMD2C) [MIM:618189] |
62709 | Q9HAB8 (PPCS) | E | V | 233 | - | Disease: Cardiomyopat hy, dilated 2C (CMD2C) [MIM:618189] |
62710 | Q9HAC7 (SUGCT) | R | W | 336 | rs137852860 | Disease: Glutaric aciduria 3 (GA3) [MIM:231690] |
62711 | Q9HAD4 (WDR41) | G | D | 61 | rs389319 | Benign |
62712 | Q9HAD4 (WDR41) | R | C | 260 | rs17751013 | Benign |
62713 | Q9HAD4 (WDR41) | V | I | 329 | rs33204 | Benign |
62714 | Q9HAH1 (ZNF556) | R | C | 137 | rs10421121 | Benign |
62715 | Q9HAH1 (ZNF556) | R | L | 146 | rs35499960 | Benign |
62716 | Q9HAH1 (ZNF556) | A | T | 353 | rs35296337 | Benign |
62717 | Q9HAH1 (ZNF556) | E | K | 428 | rs35494032 | Benign |
62718 | Q9HAK2 (EBF2) | G | S | 559 | rs17054477 | Benign |
62719 | Q9HAN9 (NMNAT1) | V | M | 9 | rs387907294 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62720 | Q9HAN9 (NMNAT1) | A | T | 13 | rs138613460 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62721 | Q9HAN9 (NMNAT1) | I | N | 20 | rs761948762 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62722 | Q9HAN9 (NMNAT1) | D | G | 33 | - | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62723 | Q9HAN9 (NMNAT1) | M | T | 35 | - | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62724 | Q9HAN9 (NMNAT1) | A | V | 54 | rs760965874 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62725 | Q9HAN9 (NMNAT1) | R | W | 66 | rs763325435 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62726 | Q9HAN9 (NMNAT1) | V | F | 67 | rs756903689 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62727 | Q9HAN9 (NMNAT1) | M | V | 69 | rs372066126 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62728 | Q9HAN9 (NMNAT1) | L | H | 72 | - | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62729 | Q9HAN9 (NMNAT1) | V | G | 98 | rs771336246 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62730 | Q9HAN9 (NMNAT1) | A | P | 147 | - | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62731 | Q9HAN9 (NMNAT1) | V | F | 151 | rs387907292 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62732 | Q9HAN9 (NMNAT1) | L | P | 153 | - | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62733 | Q9HAN9 (NMNAT1) | L | V | 153 | rs387907293 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62734 | Q9HAN9 (NMNAT1) | G | R | 156 | rs1244511644 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62735 | Q9HAN9 (NMNAT1) | D | G | 173 | - | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62736 | Q9HAN9 (NMNAT1) | V | M | 178 | rs757724544 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62737 | Q9HAN9 (NMNAT1) | Y | C | 181 | rs748913297 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62738 | Q9HAN9 (NMNAT1) | I | M | 184 | - | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62739 | Q9HAN9 (NMNAT1) | R | W | 207 | rs142968179 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62740 | Q9HAN9 (NMNAT1) | I | N | 217 | - | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62741 | Q9HAN9 (NMNAT1) | R | C | 237 | rs375110174 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62742 | Q9HAN9 (NMNAT1) | R | L | 237 | rs368062092 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62743 | Q9HAN9 (NMNAT1) | L | S | 239 | rs778606847 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62744 | Q9HAN9 (NMNAT1) | H | P | 251 | rs1208495291 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62745 | Q9HAN9 (NMNAT1) | E | K | 257 | rs150726175 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62746 | Q9HAN9 (NMNAT1) | N | D | 273 | rs387907291 | Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553] |
62747 | Q9HAP2 (MLXIP) | E | G | 396 | rs7978353 | Benign |
62748 | Q9HAP2 (MLXIP) | V | L | 539 | rs34702867 | Benign |
62749 | Q9HAQ2 (KIF9) | V | I | 78 | rs2270569 | Benign |
62750 | Q9HAQ2 (KIF9) | G | A | 96 | rs3733092 | Benign |
62751 | Q9HAQ2 (KIF9) | R | W | 638 | rs2276853 | Benign |
62752 | Q9HAR2 (ADGRL3) | A | S | 247 | - | Benign |
62753 | Q9HAR2 (ADGRL3) | R | Q | 465 | rs35106420 | Benign |
62754 | Q9HAR2 (ADGRL3) | T | M | 770 | - | Benign |
62755 | Q9HAR2 (ADGRL3) | L | V | 915 | - | Benign |
62756 | Q9HAS3 (SLC28A3) | R | K | 4 | rs11568401 | Benign |
62757 | Q9HAS3 (SLC28A3) | S | N | 5 | rs11568403 | Benign |
62758 | Q9HAS3 (SLC28A3) | D | H | 62 | rs45621433 | Benign |
62759 | Q9HAS3 (SLC28A3) | R | K | 67 | rs11568411 | Benign |
62760 | Q9HAS3 (SLC28A3) | Y | C | 113 | rs10868138 | Benign |
62761 | Q9HAS3 (SLC28A3) | L | F | 131 | - | Benign |
62762 | Q9HAS3 (SLC28A3) | P | Q | 221 | rs11140503 | Benign |
62763 | Q9HAS3 (SLC28A3) | I | V | 328 | rs11568418 | Benign |
62764 | Q9HAS3 (SLC28A3) | R | Q | 349 | rs45525131 | Benign |
62765 | Q9HAS3 (SLC28A3) | A | T | 366 | rs140138960 | Benign |
62766 | Q9HAS3 (SLC28A3) | G | R | 367 | rs11568388 | Benign |
62767 | Q9HAS3 (SLC28A3) | L | I | 418 | rs11568405 | Benign |
62768 | Q9HAS3 (SLC28A3) | Y | F | 513 | rs56350726 | Benign |
62769 | Q9HAS3 (SLC28A3) | R | H | 585 | rs11568398 | Benign |
62770 | Q9HAT1 (LMAN1L) | R | Q | 105 | rs3803568 | Benign |
62771 | Q9HAT1 (LMAN1L) | R | S | 517 | rs1060480 | Benign |
62772 | Q9HAT2 (SIAE) | A | G | 3 | rs144571829 | Benign |
62773 | Q9HAT2 (SIAE) | N | S | 33 | rs762824510 | Benign |
62774 | Q9HAT2 (SIAE) | R | H | 62 | rs377634657 | Benign |
62775 | Q9HAT2 (SIAE) | G | S | 64 | rs76655561 | Benign |
62776 | Q9HAT2 (SIAE) | K | R | 71 | rs12282107 | Benign |
62777 | Q9HAT2 (SIAE) | M | V | 89 | rs78778622 | Benign |
62778 | Q9HAT2 (SIAE) | Q | K | 161 | rs200739060 | Benign |
62779 | Q9HAT2 (SIAE) | C | F | 196 | rs143070599 | Disease: Autoimmune disease 6 (AIS6) [MIM:613551] |
62780 | Q9HAT2 (SIAE) | G | R | 212 | rs149466359 | Disease: Autoimmune disease 6 (AIS6) [MIM:613551] |
62781 | Q9HAT2 (SIAE) | R | W | 230 | rs200862001 | Disease: Autoimmune disease 6 (AIS6) [MIM:613551] |
62782 | Q9HAT2 (SIAE) | C | G | 266 | rs746914032 | Disease: Autoimmune disease 6 (AIS6) [MIM:613551] |
62783 | Q9HAT2 (SIAE) | Q | P | 309 | rs757586703 | Disease: Autoimmune disease 6 (AIS6) [MIM:613551] |
62784 | Q9HAT2 (SIAE) | T | M | 312 | rs144510878 | Benign |
62785 | Q9HAT2 (SIAE) | R | H | 314 | rs147649509 | Benign |
62786 | Q9HAT2 (SIAE) | Y | C | 349 | rs749579541 | Disease: Autoimmune disease 6 (AIS6) [MIM:613551] |
62787 | Q9HAT2 (SIAE) | R | H | 393 | rs552372846 | Disease: Autoimmune disease 6 (AIS6) [MIM:613551] |
62788 | Q9HAT2 (SIAE) | K | N | 400 | rs766047951 | Benign |
62789 | Q9HAT2 (SIAE) | F | S | 404 | rs201877149 | Disease: Autoimmune disease 6 (AIS6) [MIM:613551] |
62790 | Q9HAT2 (SIAE) | H | R | 447 | rs147161431 | Benign |
62791 | Q9HAT2 (SIAE) | Q | R | 462 | rs143668140 | Benign |
62792 | Q9HAT2 (SIAE) | A | V | 467 | rs7941523 | Benign |
62793 | Q9HAT2 (SIAE) | R | C | 479 | rs376857712 | Disease: Autoimmune disease 6 (AIS6) [MIM:613551] |
62794 | Q9HAU5 (UPF2) | N | S | 496 | rs7079388 | Benign |
62795 | Q9HAV0 (GNB4) | G | D | 53 | rs387907340 | Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) [MIM:615185] |
62796 | Q9HAV0 (GNB4) | K | E | 89 | rs387907341 | Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) [MIM:615185] |
62797 | Q9HAV4 (XPO5) | S | N | 241 | rs34324334 | Benign |
62798 | Q9HAV4 (XPO5) | K | N | 610 | rs12173786 | Benign |
62799 | Q9HAV5 (EDA2R) | R | K | 57 | rs1385699 | Benign |
62800 | Q9HAV5 (EDA2R) | T | A | 129 | rs1385698 | Benign |
62801 | Q9HAW4 (CLSPN) | N | S | 525 | rs7537203 | Benign |
62802 | Q9HAW4 (CLSPN) | P | T | 892 | rs34390044 | Benign |
62803 | Q9HAW4 (CLSPN) | S | L | 1280 | rs35490896 | Benign |
62804 | Q9HAW7 (UGT1A7) | N | K | 129 | rs17868323 | Benign |
62805 | Q9HAW7 (UGT1A7) | R | K | 131 | rs386656364 | Benign |
62806 | Q9HAW7 (UGT1A7) | R | Q | 131 | rs17868324 | Benign |
62807 | Q9HAW7 (UGT1A7) | W | R | 208 | rs11692021 | Benign |
62808 | Q9HAW8 (UGT1A10) | M | I | 59 | rs56935833 | Benign |
62809 | Q9HAW8 (UGT1A10) | E | K | 139 | rs10187694 | Benign |
62810 | Q9HAW8 (UGT1A10) | T | I | 202 | rs58704432 | Benign |
62811 | Q9HAW8 (UGT1A10) | L | I | 244 | rs28969685 | Benign |
62812 | Q9HAW9 (UGT1A8) | H | N | 53 | rs45504099 | Benign |
62813 | Q9HAW9 (UGT1A8) | K | R | 132 | - | Benign |
62814 | Q9HAW9 (UGT1A8) | A | V | 144 | rs17862841 | Benign |
62815 | Q9HAW9 (UGT1A8) | G | A | 154 | - | Benign |
62816 | Q9HAW9 (UGT1A8) | A | G | 173 | rs1042597 | Benign |
62817 | Q9HAW9 (UGT1A8) | A | V | 173 | rs1042597 | Benign |
62818 | Q9HAW9 (UGT1A8) | T | A | 202 | - | Benign |
62819 | Q9HAW9 (UGT1A8) | M | L | 212 | rs1126803 | Benign |
62820 | Q9HAW9 (UGT1A8) | A | T | 231 | rs72551325 | Benign |
62821 | Q9HAW9 (UGT1A8) | C | Y | 277 | rs17863762 | Benign |
62822 | Q9HAY2 (MAGEF1) | K | R | 93 | rs34540780 | Benign |
62823 | Q9HAY6 (BCO1) | T | M | 170 | rs119478057 | Disease: Hypercaroten emia and vitamin A deficiency, autosomal dominant (HCVAD) [MIM:115300] |
62824 | Q9HAY6 (BCO1) | R | S | 267 | rs12934922 | Benign |
62825 | Q9HAY6 (BCO1) | A | V | 379 | rs7501331 | Benign |
62826 | Q9HAZ1 (CLK4) | L | F | 352 | rs35272416 | Benign |
62827 | Q9HAZ1 (CLK4) | I | V | 363 | rs55746655 | Benign |
62828 | Q9HAZ2 (PRDM16) | S | P | 533 | rs870124 | Benign |
62829 | Q9HAZ2 (PRDM16) | P | L | 633 | rs2493292 | Benign |
62830 | Q9HAZ2 (PRDM16) | N | S | 816 | rs397514743 | Disease: Left ventricular non- compaction 8 (LVNC8) [MIM:615373] |
62831 | Q9HAZ2 (PRDM16) | V | M | 1101 | rs201654872 | Benign |
62832 | Q9HB07 (MYG1) | T | I | 349 | rs1534282 | Benign |
62833 | Q9HB09 (BCL2L12) | G | V | 47 | rs2060263 | Benign |
62834 | Q9HB14 (KCNK13) | G | R | 305 | rs3814848 | Benign |
62835 | Q9HB14 (KCNK13) | G | A | 389 | rs35909577 | Benign |
62836 | Q9HB19 (PLEKHA2) | I | N | 186 | rs59439576 | Benign |
62837 | Q9HB21 (PLEKHA1) | T | A | 320 | rs1045216 | Benign |
62838 | Q9HB29 (IL1RL2) | I | T | 237 | rs13405631 | Benign |
62839 | Q9HB29 (IL1RL2) | V | I | 352 | rs33946385 | Benign |
62840 | Q9HB29 (IL1RL2) | L | P | 550 | rs2302612 | Benign |
62841 | Q9HB31 (SEBOX) | L | S | 181 | rs9910163 | Benign |
62842 | Q9HB40 (SCPEP1) | L | V | 3 | rs34108204 | Benign |
62843 | Q9HB40 (SCPEP1) | V | I | 241 | rs16957938 | Benign |
62844 | Q9HB55 (CYP3A43) | T | A | 27 | rs45558032 | Benign |
62845 | Q9HB55 (CYP3A43) | M | I | 145 | rs45450092 | Benign |
62846 | Q9HB55 (CYP3A43) | M | I | 275 | rs45621431 | Benign |
62847 | Q9HB55 (CYP3A43) | P | A | 340 | rs680055 | Benign |
62848 | Q9HB58 (SP110) | W | R | 112 | rs1129411 | Benign |
62849 | Q9HB58 (SP110) | A | V | 128 | rs11556887 | Benign |
62850 | Q9HB58 (SP110) | S | L | 173 | rs41552315 | Benign |
62851 | Q9HB58 (SP110) | A | V | 206 | rs28930679 | Benign |
62852 | Q9HB58 (SP110) | E | K | 207 | rs9061 | Benign |
62853 | Q9HB58 (SP110) | S | A | 210 | rs1063154 | Benign |
62854 | Q9HB58 (SP110) | E | G | 212 | rs1047254 | Benign |
62855 | Q9HB58 (SP110) | M | V | 249 | rs3769838 | Benign |
62856 | Q9HB58 (SP110) | E | G | 267 | rs1129425 | Benign |
62857 | Q9HB58 (SP110) | G | R | 299 | rs1365776 | Benign |
62858 | Q9HB58 (SP110) | T | M | 367 | rs59573011 | Benign |
62859 | Q9HB58 (SP110) | L | S | 425 | rs3948464 | Benign |
62860 | Q9HB58 (SP110) | M | T | 523 | rs1135791 | Benign |
62861 | Q9HB58 (SP110) | M | I | 579 | rs3948463 | Benign |
62862 | Q9HB63 (NTN4) | Y | H | 205 | rs17288108 | Benign |
62863 | Q9HB65 (ELL3) | Q | E | 11 | rs2277531 | Benign |
62864 | Q9HB65 (ELL3) | W | R | 140 | rs35454865 | Benign |
62865 | Q9HB75 (PIDD1) | Q | R | 331 | rs10902221 | Benign |
62866 | Q9HB96 (FANCE) | R | L | 89 | rs45600543 | Benign |
62867 | Q9HB96 (FANCE) | S | L | 204 | rs7761870 | Benign |
62868 | Q9HB96 (FANCE) | G | R | 340 | rs45524646 | Benign |
62869 | Q9HB96 (FANCE) | R | Q | 343 | rs45467798 | Benign |
62870 | Q9HB96 (FANCE) | A | T | 502 | rs9462088 | Benign |
62871 | Q9HBA0 (TRPV4) | P | S | 19 | rs3742030 | Benign |
62872 | Q9HBA0 (TRPV4) | T | I | 89 | rs397514473 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62873 | Q9HBA0 (TRPV4) | P | R | 97 | rs876661124 | Disease: Neuronopathy , distal hereditary motor, 8 (HMN8) [MIM:600175] |
62874 | Q9HBA0 (TRPV4) | E | K | 183 | rs387906324 | Benign |
62875 | Q9HBA0 (TRPV4) | K | R | 197 | rs387906903 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62876 | Q9HBA0 (TRPV4) | L | F | 199 | rs515726167 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62877 | Q9HBA0 (TRPV4) | R | C | 232 | rs387906904 | Disease: Neuronopathy , distal hereditary motor, 8 (HMN8) [MIM:600175] |
62878 | Q9HBA0 (TRPV4) | R | C | 269 | rs267607146 | Disease: Charcot- Marie-Tooth disease 2C (CMT2C) [MIM:606071] |
62879 | Q9HBA0 (TRPV4) | R | H | 269 | rs267607144 | Disease: Neuronopathy , distal hereditary motor, 8 (HMN8) [MIM:600175] |
62880 | Q9HBA0 (TRPV4) | G | V | 270 | rs387907220 | Disease: Digital arthropathy- brachydactyl y, familial (FDAB) [MIM:606835] |
62881 | Q9HBA0 (TRPV4) | R | P | 271 | rs387907219 | Disease: Digital arthropathy- brachydactyl y, familial (FDAB) [MIM:606835] |
62882 | Q9HBA0 (TRPV4) | F | L | 273 | rs515726170 | Disease: Digital arthropathy- brachydactyl y, familial (FDAB) [MIM:606835] |
62883 | Q9HBA0 (TRPV4) | E | K | 278 | rs267607148 | Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252] |
62884 | Q9HBA0 (TRPV4) | T | A | 295 | rs515726171 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62885 | Q9HBA0 (TRPV4) | R | W | 315 | rs267607143 | Disease: Charcot- Marie-Tooth disease 2C (CMT2C) [MIM:606071] |
62886 | Q9HBA0 (TRPV4) | R | C | 316 | rs267607145 | Disease: Scapuloperon eal spinal muscular atrophy (SPSMA) [MIM:181405] |
62887 | Q9HBA0 (TRPV4) | R | H | 316 | rs387906905 | Disease: Charcot- Marie-Tooth disease 2C (CMT2C) [MIM:606071] |
62888 | Q9HBA0 (TRPV4) | I | F | 331 | rs121912636 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62889 | Q9HBA0 (TRPV4) | I | T | 331 | rs515726172 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62890 | Q9HBA0 (TRPV4) | D | G | 333 | rs121912634 | Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252] |
62891 | Q9HBA0 (TRPV4) | V | F | 342 | rs515726152 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62892 | Q9HBA0 (TRPV4) | S | Y | 542 | rs387906902 | Disease: Charcot- Marie-Tooth disease 2C (CMT2C) [MIM:606071] |
62893 | Q9HBA0 (TRPV4) | F | L | 592 | rs515726158 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62894 | Q9HBA0 (TRPV4) | R | H | 594 | rs77975504 | Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252] |
62895 | Q9HBA0 (TRPV4) | L | P | 596 | rs515726159 | Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252] |
62896 | Q9HBA0 (TRPV4) | G | W | 600 | rs515726160 | Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252] |
62897 | Q9HBA0 (TRPV4) | Y | C | 602 | rs267607150 | Benign |
62898 | Q9HBA0 (TRPV4) | I | M | 604 | rs515726161 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62899 | Q9HBA0 (TRPV4) | R | Q | 616 | rs121912632 | Disease: Brachyolmia 3 (BCYM3) [MIM:113500] |
62900 | Q9HBA0 (TRPV4) | F | L | 617 | rs515726162 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62901 | Q9HBA0 (TRPV4) | L | P | 618 | rs515726163 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62902 | Q9HBA0 (TRPV4) | V | I | 620 | rs121912633 | Disease: Brachyolmia 3 (BCYM3) [MIM:113500] |
62903 | Q9HBA0 (TRPV4) | M | I | 625 | rs515726164 | Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252] |
62904 | Q9HBA0 (TRPV4) | L | M | 709 | rs116571438 | Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252] |
62905 | Q9HBA0 (TRPV4) | A | S | 716 | rs121912635 | Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252] |
62906 | Q9HBA0 (TRPV4) | R | K | 775 | - | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62907 | Q9HBA0 (TRPV4) | C | Y | 777 | rs515726165 | Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252] |
62908 | Q9HBA0 (TRPV4) | E | K | 797 | rs267607149 | Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252] |
62909 | Q9HBA0 (TRPV4) | P | A | 799 | rs267607147 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62910 | Q9HBA0 (TRPV4) | P | L | 799 | rs121912637 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62911 | Q9HBA0 (TRPV4) | P | R | 799 | rs121912637 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62912 | Q9HBA0 (TRPV4) | P | S | 799 | rs267607147 | Disease: Metatropic dysplasia (MTD) [MIM:156530] |
62913 | Q9HBA9 (FOLH1B) | N | K | 151 | rs10830339 | Benign |
62914 | Q9HBB8 (CDHR5) | Q | P | 165 | rs2740374 | Benign |
62915 | Q9HBB8 (CDHR5) | R | S | 357 | rs2246614 | Benign |
62916 | Q9HBB8 (CDHR5) | D | N | 389 | rs2306066 | Benign |
62917 | Q9HBB8 (CDHR5) | P | S | 521 | rs2740375 | Benign |
62918 | Q9HBB8 (CDHR5) | C | S | 702 | rs2740379 | Benign |
62919 | Q9HBE1 (PATZ1) | E | D | 685 | rs2240424 | Benign |
62920 | Q9HBE4 (IL21) | L | P | 56 | - | Disease: Immunodefici ency, common variable, 11 (CVID11) [MIM:615767] |
62921 | Q9HBE5 (IL21R) | R | C | 191 | rs3093370 | Benign |
62922 | Q9HBE5 (IL21R) | R | L | 201 | rs397514685 | Disease: Immunodefici ency 56 (IMD56) [MIM:615207] |
62923 | Q9HBE5 (IL21R) | S | R | 318 | rs3093385 | Benign |
62924 | Q9HBE5 (IL21R) | G | S | 484 | rs3093386 | Benign |
62925 | Q9HBF5 (ST20) | P | L | 57 | rs7257 | Benign |
62926 | Q9HBG4 (ATP6V0A4) | V | A | 2 | rs10258719 | Benign |
62927 | Q9HBG4 (ATP6V0A4) | G | D | 175 | - | Disease: Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] |
62928 | Q9HBG4 (ATP6V0A4) | R | H | 449 | rs1443883930 | Disease: Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] |
62929 | Q9HBG4 (ATP6V0A4) | P | L | 524 | rs121908368 | Disease: Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] |
62930 | Q9HBG4 (ATP6V0A4) | F | L | 554 | rs1026435 | Benign |
62931 | Q9HBG4 (ATP6V0A4) | M | T | 580 | rs3807153 | Disease: Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] |
62932 | Q9HBG4 (ATP6V0A4) | H | Q | 604 | rs3807154 | Benign |
62933 | Q9HBG4 (ATP6V0A4) | R | Q | 807 | rs28939081 | Disease: Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] |
62934 | Q9HBG4 (ATP6V0A4) | G | R | 820 | rs267606671 | Disease: Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] |
62935 | Q9HBG6 (IFT122) | W | C | 7 | rs267607193 | Disease: Cranioectode rmal dysplasia 1 (CED1) [MIM:218330] |
62936 | Q9HBG6 (IFT122) | S | F | 322 | rs267607192 | Disease: Cranioectode rmal dysplasia 1 (CED1) [MIM:218330] |
62937 | Q9HBG6 (IFT122) | G | R | 495 | rs397515568 | Disease: Cranioectode rmal dysplasia 1 (CED1) [MIM:218330] |
62938 | Q9HBG6 (IFT122) | V | G | 502 | rs267607191 | Disease: Cranioectode rmal dysplasia 1 (CED1) [MIM:218330] |
62939 | Q9HBG6 (IFT122) | G | V | 572 | rs786205566 | Disease: Cranioectode rmal dysplasia 1 (CED1) [MIM:218330] |
62940 | Q9HBG7 (LY9) | M | V | 602 | rs509749 | Benign |
62941 | Q9HBH1 (PDF) | W | R | 11 | rs8057004 | Benign |
62942 | Q9HBH7 (BEX1) | V | L | 9 | rs3174500 | Benign |
62943 | Q9HBH7 (BEX1) | S | N | 11 | rs1045058 | Benign |
62944 | Q9HBH7 (BEX1) | S | I | 13 | rs1045061 | Benign |
62945 | Q9HBH7 (BEX1) | M | V | 14 | rs1045063 | Benign |
62946 | Q9HBH7 (BEX1) | A | V | 17 | rs1045065 | Benign |
62947 | Q9HBH7 (BEX1) | A | V | 40 | rs709036 | Benign |
62948 | Q9HBH7 (BEX1) | M | I | 66 | rs1045082 | Benign |
62949 | Q9HBH9 (MKNK2) | Q | K | 10 | rs3746101 | Benign |
62950 | Q9HBH9 (MKNK2) | D | N | 73 | rs56158214 | Benign |
62951 | Q9HBH9 (MKNK2) | R | Q | 428 | rs34475638 | Benign |
62952 | Q9HBI1 (PARVB) | P | R | 52 | rs34476853 | Benign |
62953 | Q9HBI1 (PARVB) | V | A | 58 | rs1983609 | Benign |
62954 | Q9HBI6 (CYP4F11) | R | C | 146 | rs57519667 | Benign |
62955 | Q9HBI6 (CYP4F11) | C | R | 276 | rs8104361 | Benign |
62956 | Q9HBI6 (CYP4F11) | D | N | 446 | rs1060463 | Benign |
62957 | Q9HBJ7 (USP29) | N | S | 368 | rs1027392 | Benign |
62958 | Q9HBJ7 (USP29) | E | K | 586 | rs3795003 | Benign |
62959 | Q9HBK9 (AS3MT) | R | W | 173 | rs35232887 | Benign |
62960 | Q9HBK9 (AS3MT) | M | T | 287 | rs11191439 | Benign |
62961 | Q9HBK9 (AS3MT) | T | I | 306 | rs34556438 | Benign |
62962 | Q9HBL0 (TNS1) | I | M | 311 | rs11680854 | Benign |
62963 | Q9HBL0 (TNS1) | R | C | 466 | rs3815849 | Benign |
62964 | Q9HBL0 (TNS1) | T | I | 528 | rs3796033 | Benign |
62965 | Q9HBL0 (TNS1) | R | W | 1004 | rs3796028 | Benign |
62966 | Q9HBL0 (TNS1) | W | R | 1197 | rs2571445 | Benign |
62967 | Q9HBL0 (TNS1) | V | I | 1604 | rs918949 | Benign |
62968 | Q9HBL6 (LRTM1) | E | K | 43 | rs3806633 | Benign |
62969 | Q9HBL6 (LRTM1) | L | V | 117 | rs35540470 | Benign |
62970 | Q9HBL8 (NMRAL1) | T | I | 23 | rs11557236 | Benign |
62971 | Q9HBL8 (NMRAL1) | P | L | 252 | rs3747582 | Benign |
62972 | Q9HBM0 (VEZT) | T | A | 162 | rs17855933 | Benign |
62973 | Q9HBM0 (VEZT) | V | I | 496 | rs10507051 | Benign |
62974 | Q9HBM0 (VEZT) | V | M | 612 | rs17344738 | Benign |
62975 | Q9HBM0 (VEZT) | S | A | 668 | rs17855934 | Benign |
62976 | Q9HBM0 (VEZT) | G | D | 762 | rs14121 | Benign |
62977 | Q9HBQ8 (GOLGA2P5) | A | V | 110 | rs12370675 | Benign |
62978 | Q9HBR0 (SLC38A10) | K | R | 559 | rs35546507 | Benign |
62979 | Q9HBR0 (SLC38A10) | A | G | 831 | rs2725405 | Benign |
62980 | Q9HBT6 (CDH20) | P | H | 328 | rs1943330 | Benign |
62981 | Q9HBT6 (CDH20) | Q | R | 371 | rs35923922 | Benign |
62982 | Q9HBT6 (CDH20) | P | L | 391 | rs17068463 | Benign |
62983 | Q9HBT7 (ZNF287) | K | T | 281 | rs7224723 | Benign |
62984 | Q9HBT8 (ZNF286A) | Y | H | 90 | rs3760299 | Benign |
62985 | Q9HBU1 (BARX1) | A | T | 48 | rs191789925 | Benign |
62986 | Q9HBU9 (POPDC2) | V | I | 29 | rs4688023 | Benign |
62987 | Q9HBV1 (POPDC3) | R | Q | 106 | rs11961225 | Benign |
62988 | Q9HBV2 (SPACA1) | L | S | 237 | rs2276089 | Benign |
62989 | Q9HBW9 (ADGRL4) | V | L | 300 | rs12754818 | Benign |
62990 | Q9HBW9 (ADGRL4) | H | Q | 599 | rs1968956 | Benign |
62991 | Q9HBW9 (ADGRL4) | A | G | 620 | rs2275902 | Benign |
62992 | Q9HBX3 (SND1-IT1) | T | A | 24 | rs17151639 | Benign |
62993 | Q9HBX8 (LGR6) | N | K | 267 | rs7553800 | Benign |
62994 | Q9HBX8 (LGR6) | A | S | 516 | rs6668765 | Benign |
62995 | Q9HBX8 (LGR6) | V | A | 592 | rs788795 | Benign |
62996 | Q9HBY0 (NOX3) | T | K | 171 | rs3749930 | Benign |
62997 | Q9HBY8 (SGK2) | S | T | 12 | rs33969356 | Benign |
62998 | Q9HBY8 (SGK2) | H | Y | 349 | rs35793869 | Benign |
62999 | Q9HBZ2 (ARNT2) | R | W | 46 | rs140468271 | Benign |
63000 | Q9HBZ2 (ARNT2) | R | H | 107 | rs371290912 | Benign |
63001 | Q9HBZ2 (ARNT2) | R | Q | 402 | rs141193900 | Benign |
63002 | Q9HBZ2 (ARNT2) | W | R | 410 | rs150964641 | Benign |
63003 | Q9HBZ2 (ARNT2) | G | S | 679 | rs4072568 | Benign |
63004 | Q9HC07 (TMEM165) | R | C | 126 | rs387907222 | Disease: Congenital disorder of glycosylatio n 2K (CDG2K) [MIM:614727] |
63005 | Q9HC07 (TMEM165) | R | H | 126 | rs387907221 | Disease: Congenital disorder of glycosylatio n 2K (CDG2K) [MIM:614727] |
63006 | Q9HC07 (TMEM165) | G | R | 304 | rs886037631 | Disease: Congenital disorder of glycosylatio n 2K (CDG2K) [MIM:614727] |
63007 | Q9HC10 (OTOF) | A | V | 53 | rs1879761 | Benign |
63008 | Q9HC10 (OTOF) | R | C | 82 | rs13031859 | Benign |
63009 | Q9HC10 (OTOF) | Q | H | 255 | rs397515611 | Disease: Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071] |
63010 | Q9HC10 (OTOF) | P | Q | 490 | rs80356585 | Disease: Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071] |
63011 | Q9HC10 (OTOF) | I | T | 515 | rs80356586 | Disease: Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071] |
63012 | Q9HC10 (OTOF) | V | M | 575 | rs55676840 | Benign |
63013 | Q9HC10 (OTOF) | R | S | 773 | - | Benign |
63014 | Q9HC10 (OTOF) | R | H | 794 | rs80356592 | Disease: Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071] |
63015 | Q9HC10 (OTOF) | R | W | 818 | rs2272070 | Benign |
63016 | Q9HC10 (OTOF) | R | W | 822 | rs80356570 | Benign |
63017 | Q9HC10 (OTOF) | A | E | 964 | rs201329629 | Disease: Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071] |
63018 | Q9HC10 (OTOF) | L | P | 1011 | rs80356596 | Disease: Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071] |
63019 | Q9HC10 (OTOF) | A | P | 1083 | rs80356574 | Benign |
63020 | Q9HC10 (OTOF) | L | P | 1138 | rs397515599 | Disease: Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071] |
63021 | Q9HC10 (OTOF) | R | Q | 1157 | rs56054534 | Disease: Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071] |
63022 | Q9HC10 (OTOF) | R | Q | 1236 | rs368633281 | Benign |
63023 | Q9HC10 (OTOF) | D | E | 1322 | rs80356576 | Benign |
63024 | Q9HC10 (OTOF) | V | M | 1625 | rs80356579 | Benign |
63025 | Q9HC10 (OTOF) | P | S | 1646 | rs17005371 | Benign |
63026 | Q9HC10 (OTOF) | R | H | 1680 | rs11893228 | Benign |
63027 | Q9HC10 (OTOF) | T | K | 1688 | - | Benign |
63028 | Q9HC10 (OTOF) | F | C | 1795 | rs397515606 | Disease: Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071] |
63029 | Q9HC10 (OTOF) | P | A | 1825 | rs28937591 | Disease: Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071] |
63030 | Q9HC10 (OTOF) | V | A | 1886 | rs45442103 | Benign |
63031 | Q9HC10 (OTOF) | G | D | 1888 | rs80356583 | Benign |
63032 | Q9HC10 (OTOF) | R | Q | 1939 | rs80356605 | Disease: Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071] |
63033 | Q9HC10 (OTOF) | P | R | 1987 | rs80356606 | Disease: Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071] |
63034 | Q9HC16 (APOBEC3G) | H | R | 186 | rs8177832 | Benign |
63035 | Q9HC16 (APOBEC3G) | R | H | 256 | rs17000736 | Benign |
63036 | Q9HC16 (APOBEC3G) | Q | E | 275 | rs17496046 | Benign |
63037 | Q9HC21 (SLC25A19) | G | S | 125 | rs387906944 | Disease: Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropat hy type (THMD4) [MIM:613710] |
63038 | Q9HC21 (SLC25A19) | G | A | 177 | rs119473030 | Disease: Microcephaly , Amish type (MCPHA) [MIM:607196] |
63039 | Q9HC23 (PROK2) | A | P | 24 | rs587777863 | Disease: Hypogonadotr opic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] |
63040 | Q9HC23 (PROK2) | G | R | 32 | rs104893767 | Disease: Hypogonadotr opic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] |
63041 | Q9HC23 (PROK2) | C | Y | 34 | rs587777864 | Disease: Hypogonadotr opic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] |
63042 | Q9HC23 (PROK2) | C | Y | 46 | rs1427017264 | Disease: Hypogonadotr opic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] |
63043 | Q9HC23 (PROK2) | I | M | 50 | rs1388290870 | Disease: Hypogonadotr opic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] |
63044 | Q9HC23 (PROK2) | R | C | 73 | rs121434272 | Disease: Hypogonadotr opic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] |
63045 | Q9HC24 (TMBIM4) | A | V | 2 | rs11176070 | Benign |
63046 | Q9HC24 (TMBIM4) | I | T | 88 | rs8793 | Benign |
63047 | Q9HC29 (NOD2) | L | V | 81 | rs34936594 | Benign |
63048 | Q9HC29 (NOD2) | T | M | 189 | rs61755182 | Benign |
63049 | Q9HC29 (NOD2) | P | S | 268 | rs2066842 | Benign |
63050 | Q9HC29 (NOD2) | N | S | 289 | rs5743271 | Benign |
63051 | Q9HC29 (NOD2) | R | Q | 334 | rs104895461 | Disease: Blau syndrome (BLAUS) [MIM:186580] |
63052 | Q9HC29 (NOD2) | R | W | 334 | rs104895462 | Disease: Blau syndrome (BLAUS) [MIM:186580] |
63053 | Q9HC29 (NOD2) | D | E | 382 | rs104895476 | Disease: Blau syndrome (BLAUS) [MIM:186580] |
63054 | Q9HC29 (NOD2) | E | K | 383 | rs104895477 | Disease: Blau syndrome (BLAUS) [MIM:186580] |
63055 | Q9HC29 (NOD2) | R | C | 391 | rs104895481 | Benign |
63056 | Q9HC29 (NOD2) | P | A | 463 | rs104895482 | Benign |
63057 | Q9HC29 (NOD2) | G | W | 464 | rs104895492 | Benign |
63058 | Q9HC29 (NOD2) | L | F | 469 | rs104895460 | Disease: Blau syndrome (BLAUS) [MIM:186580] |
63059 | Q9HC29 (NOD2) | R | C | 471 | rs1078327 | Benign |
63060 | Q9HC29 (NOD2) | H | L | 496 | rs104895472 | Disease: Blau syndrome (BLAUS) [MIM:186580] |
63061 | Q9HC29 (NOD2) | P | S | 507 | - | Disease: Blau syndrome (BLAUS) [MIM:186580] |
63062 | Q9HC29 (NOD2) | M | T | 513 | rs104895473 | Disease: Blau syndrome (BLAUS) [MIM:186580] |
63063 | Q9HC29 (NOD2) | T | N | 605 | - | Disease: Blau syndrome (BLAUS) [MIM:186580] |
63064 | Q9HC29 (NOD2) | T | P | 605 | rs104895474 | Disease: Blau syndrome (BLAUS) [MIM:186580] |
63065 | Q9HC29 (NOD2) | N | K | 670 | rs104895475 | Disease: Blau syndrome (BLAUS) [MIM:186580] |
63066 | Q9HC29 (NOD2) | R | W | 702 | rs2066844 | Disease: Yao syndrome (YAOS) [MIM:617321] |
63067 | Q9HC29 (NOD2) | R | Q | 790 | rs5743279 | Benign |
63068 | Q9HC29 (NOD2) | R | W | 791 | rs104895484 | Benign |
63069 | Q9HC29 (NOD2) | N | K | 825 | rs104895485 | Benign |
63070 | Q9HC29 (NOD2) | A | V | 849 | rs104895486 | Benign |
63071 | Q9HC29 (NOD2) | G | R | 908 | rs2066845 | Disease: Yao syndrome (YAOS) [MIM:617321] |
63072 | Q9HC29 (NOD2) | A | D | 918 | rs104895452 | Benign |
63073 | Q9HC29 (NOD2) | V | I | 955 | rs5743291 | Benign |
63074 | Q9HC35 (EML4) | K | E | 283 | rs6736913 | Benign |
63075 | Q9HC35 (EML4) | I | V | 382 | rs10202624 | Benign |
63076 | Q9HC35 (EML4) | K | R | 398 | rs28651764 | Benign |
63077 | Q9HC35 (EML4) | S | L | 978 | rs28364731 | Benign |
63078 | Q9HC36 (MRM3) | A | S | 8 | rs2273454 | Benign |
63079 | Q9HC36 (MRM3) | G | E | 45 | rs2249542 | Benign |
63080 | Q9HC36 (MRM3) | I | V | 185 | rs17854653 | Benign |
63081 | Q9HC36 (MRM3) | E | Q | 326 | rs35780267 | Benign |
63082 | Q9HC38 (GLOD4) | M | I | 282 | rs17851349 | Benign |
63083 | Q9HC44 (GPBP1L1) | P | S | 192 | rs36067922 | Benign |
63084 | Q9HC44 (GPBP1L1) | R | H | 439 | rs12093126 | Benign |
63085 | Q9HC52 (CBX8) | G | V | 317 | rs4889891 | Benign |
63086 | Q9HC57 (WFDC1) | L | V | 196 | rs35504166 | Benign |
63087 | Q9HC57 (WFDC1) | K | R | 217 | rs12933084 | Benign |
63088 | Q9HC58 (SLC24A3) | L | P | 49 | rs3790174 | Benign |
63089 | Q9HC58 (SLC24A3) | V | I | 55 | rs1569767 | Benign |
63090 | Q9HC58 (SLC24A3) | V | I | 168 | rs3790267 | Benign |
63091 | Q9HC58 (SLC24A3) | G | S | 271 | rs6136807 | Benign |
63092 | Q9HC62 (SENP2) | T | K | 301 | rs6762208 | Benign |
63093 | Q9HC77 (CENPJ) | M | V | 21 | rs35498994 | Benign |
63094 | Q9HC77 (CENPJ) | P | A | 55 | rs17081389 | Benign |
63095 | Q9HC77 (CENPJ) | D | H | 63 | rs7336216 | Benign |
63096 | Q9HC77 (CENPJ) | P | T | 85 | rs9511510 | Benign |
63097 | Q9HC77 (CENPJ) | E | G | 151 | rs34177811 | Benign |
63098 | Q9HC77 (CENPJ) | S | A | 879 | rs17402892 | Benign |
63099 | Q9HC77 (CENPJ) | E | V | 1235 | rs121434311 | Disease: Microcephaly 6, primary, autosomal recessive (MCPH6) [MIM:608393] |
63100 | Q9HC78 (ZBTB20) | K | Q | 590 | rs483353064 | Disease: Primrose syndrome (PRIMS) [MIM:259050] |
63101 | Q9HC78 (ZBTB20) | H | R | 596 | rs483353066 | Disease: Primrose syndrome (PRIMS) [MIM:259050] |
63102 | Q9HC78 (ZBTB20) | G | A | 602 | rs483353068 | Disease: Primrose syndrome (PRIMS) [MIM:259050] |
63103 | Q9HC78 (ZBTB20) | L | F | 621 | rs483353070 | Disease: Primrose syndrome (PRIMS) [MIM:259050] |
63104 | Q9HC84 (MUC5B) | E | G | 34 | rs2672785 | Benign |
63105 | Q9HC84 (MUC5B) | R | W | 51 | rs2075853 | Benign |
63106 | Q9HC84 (MUC5B) | T | M | 1360 | rs12363494 | Benign |
63107 | Q9HC84 (MUC5B) | R | H | 1401 | rs10835639 | Benign |
63108 | Q9HC84 (MUC5B) | G | S | 1805 | rs1541314 | Benign |
63109 | Q9HC84 (MUC5B) | P | L | 1889 | rs2943510 | Benign |
63110 | Q9HC84 (MUC5B) | A | T | 2025 | rs34739266 | Benign |
63111 | Q9HC84 (MUC5B) | A | T | 2027 | rs2943531 | Benign |
63112 | Q9HC84 (MUC5B) | M | T | 2194 | rs2943502 | Benign |
63113 | Q9HC84 (MUC5B) | L | P | 2238 | rs4963031 | Benign |
63114 | Q9HC84 (MUC5B) | M | T | 2425 | rs3965632 | Benign |
63115 | Q9HC84 (MUC5B) | T | M | 2559 | rs60787297 | Benign |
63116 | Q9HC84 (MUC5B) | F | S | 3072 | rs55813014 | Benign |
63117 | Q9HC84 (MUC5B) | T | A | 3284 | rs2943531 | Benign |
63118 | Q9HC84 (MUC5B) | R | P | 3468 | rs2943529 | Benign |
63119 | Q9HC84 (MUC5B) | T | M | 3816 | rs201948297 | Benign |
63120 | Q9HC84 (MUC5B) | A | G | 4404 | rs2943517 | Benign |
63121 | Q9HC84 (MUC5B) | P | L | 4440 | rs2943516 | Benign |
63122 | Q9HC84 (MUC5B) | T | P | 4706 | rs2943512 | Benign |
63123 | Q9HC84 (MUC5B) | T | M | 4712 | rs2943511 | Benign |
63124 | Q9HC84 (MUC5B) | A | T | 4867 | rs3021155 | Benign |
63125 | Q9HC84 (MUC5B) | T | A | 4882 | rs3021156 | Benign |
63126 | Q9HC84 (MUC5B) | S | T | 5196 | rs2672788 | Benign |
63127 | Q9HC96 (CAPN10) | P | T | 200 | rs3792268 | Benign |
63128 | Q9HC96 (CAPN10) | R | H | 202 | rs768407925 | Benign |
63129 | Q9HC96 (CAPN10) | A | V | 341 | rs776848131 | Benign |
63130 | Q9HC96 (CAPN10) | T | A | 504 | rs7607759 | Benign |
63131 | Q9HC96 (CAPN10) | A | S | 529 | - | Benign |
63132 | Q9HC96 (CAPN10) | S | N | 613 | rs146148004 | Benign |
63133 | Q9HC96 (CAPN10) | I | V | 666 | rs2975766 | Benign |
63134 | Q9HC97 (GPR35) | A | T | 25 | rs35146537 | Benign |
63135 | Q9HC97 (GPR35) | V | I | 29 | rs139197368 | Benign |
63136 | Q9HC97 (GPR35) | V | M | 76 | rs13387859 | Benign |
63137 | Q9HC97 (GPR35) | T | M | 108 | rs3749171 | Benign |
63138 | Q9HC97 (GPR35) | R | S | 125 | rs34778053 | Benign |
63139 | Q9HC97 (GPR35) | T | M | 253 | rs12468485 | Benign |
63140 | Q9HC97 (GPR35) | S | R | 294 | rs3749172 | Benign |
63141 | Q9HCC0 (MCCC2) | S | F | 39 | rs398124371 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63142 | Q9HCC0 (MCCC2) | E | Q | 99 | rs119103219 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63143 | Q9HCC0 (MCCC2) | S | F | 101 | rs748028684 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63144 | Q9HCC0 (MCCC2) | C | F | 131 | - | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63145 | Q9HCC0 (MCCC2) | T | I | 139 | - | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63146 | Q9HCC0 (MCCC2) | Y | N | 146 | - | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63147 | Q9HCC0 (MCCC2) | K | T | 152 | rs1554134065 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63148 | Q9HCC0 (MCCC2) | R | Q | 155 | rs119103220 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63149 | Q9HCC0 (MCCC2) | R | W | 155 | rs141030969 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63150 | Q9HCC0 (MCCC2) | C | R | 167 | rs119103222 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63151 | Q9HCC0 (MCCC2) | Y | D | 169 | - | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63152 | Q9HCC0 (MCCC2) | S | L | 173 | rs752866557 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63153 | Q9HCC0 (MCCC2) | H | R | 190 | rs119103225 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63154 | Q9HCC0 (MCCC2) | H | Y | 190 | rs773774134 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63155 | Q9HCC0 (MCCC2) | R | C | 193 | rs547662164 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63156 | Q9HCC0 (MCCC2) | R | H | 193 | rs535519604 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63157 | Q9HCC0 (MCCC2) | G | A | 214 | rs277995 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63158 | Q9HCC0 (MCCC2) | C | W | 216 | - | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63159 | Q9HCC0 (MCCC2) | A | T | 218 | rs886043524 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63160 | Q9HCC0 (MCCC2) | A | V | 218 | rs760420191 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63161 | Q9HCC0 (MCCC2) | G | E | 220 | rs1254750166 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63162 | Q9HCC0 (MCCC2) | P | L | 224 | rs1195601465 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63163 | Q9HCC0 (MCCC2) | N | D | 230 | rs766753795 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63164 | Q9HCC0 (MCCC2) | G | D | 237 | - | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63165 | Q9HCC0 (MCCC2) | H | L | 266 | - | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63166 | Q9HCC0 (MCCC2) | R | T | 268 | rs119103223 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63167 | Q9HCC0 (MCCC2) | D | Y | 280 | rs119103226 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63168 | Q9HCC0 (MCCC2) | H | R | 282 | - | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63169 | Q9HCC0 (MCCC2) | P | R | 310 | rs119103221 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63170 | Q9HCC0 (MCCC2) | Y | C | 318 | rs773115035 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63171 | Q9HCC0 (MCCC2) | G | R | 319 | rs1443551700 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63172 | Q9HCC0 (MCCC2) | V | M | 339 | rs150591260 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63173 | Q9HCC0 (MCCC2) | D | V | 340 | rs398124370 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63174 | Q9HCC0 (MCCC2) | G | R | 352 | rs765438239 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63175 | Q9HCC0 (MCCC2) | L | F | 355 | rs757052602 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63176 | Q9HCC0 (MCCC2) | V | F | 375 | - | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63177 | Q9HCC0 (MCCC2) | Q | P | 393 | rs750782118 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63178 | Q9HCC0 (MCCC2) | N | T | 403 | rs142887940 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63179 | Q9HCC0 (MCCC2) | G | D | 410 | rs771440617 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63180 | Q9HCC0 (MCCC2) | G | R | 410 | - | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63181 | Q9HCC0 (MCCC2) | V | L | 434 | rs758506791 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63182 | Q9HCC0 (MCCC2) | I | V | 437 | rs119103224 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63183 | Q9HCC0 (MCCC2) | A | V | 456 | rs727504011 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63184 | Q9HCC0 (MCCC2) | P | S | 459 | rs754741111 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63185 | Q9HCC0 (MCCC2) | F | V | 461 | - | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63186 | Q9HCC0 (MCCC2) | G | R | 475 | rs148773718 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63187 | Q9HCC0 (MCCC2) | Q | R | 477 | rs769558016 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63188 | Q9HCC0 (MCCC2) | A | G | 478 | rs35068278 | Benign |
63189 | Q9HCC0 (MCCC2) | G | R | 517 | rs979584886 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63190 | Q9HCC0 (MCCC2) | Y | S | 520 | rs150327768 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63191 | Q9HCC0 (MCCC2) | S | G | 523 | rs1459143051 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63192 | Q9HCC0 (MCCC2) | A | T | 524 | rs774241918 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63193 | Q9HCC0 (MCCC2) | K | E | 555 | rs1257849672 | Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] |
63194 | Q9HCC9 (ZFYVE28) | S | N | 603 | rs17768776 | Benign |
63195 | Q9HCC9 (ZFYVE28) | S | P | 672 | rs661301 | Benign |
63196 | Q9HCD5 (NCOA5) | E | G | 326 | rs11549557 | Benign |
63197 | Q9HCD6 (TANC2) | R | C | 760 | rs1282488329 | Benign |
63198 | Q9HCE0 (EPG5) | K | E | 182 | rs59422275 | Benign |
63199 | Q9HCE0 (EPG5) | Q | R | 336 | rs201757275 | Disease: Vici syndrome (VICIS) [MIM:242840] |
63200 | Q9HCE0 (EPG5) | E | D | 844 | rs3744999 | Benign |
63201 | Q9HCE0 (EPG5) | V | A | 1058 | rs3744998 | Benign |
63202 | Q9HCE0 (EPG5) | I | V | 1131 | rs3744997 | Benign |
63203 | Q9HCE0 (EPG5) | A | V | 1511 | rs1893523 | Benign |
63204 | Q9HCE0 (EPG5) | P | A | 1827 | - | Disease: Vici syndrome (VICIS) [MIM:242840] |
63205 | Q9HCE0 (EPG5) | S | N | 1864 | rs34064739 | Benign |
63206 | Q9HCE0 (EPG5) | R | Q | 1985 | rs34674177 | Benign |
63207 | Q9HCE3 (ZNF532) | E | D | 761 | rs3737506 | Benign |
63208 | Q9HCE6 (ARHGEF10L) | S | N | 47 | rs34417109 | Benign |
63209 | Q9HCE6 (ARHGEF10L) | D | N | 69 | rs35497285 | Benign |
63210 | Q9HCE6 (ARHGEF10L) | R | W | 991 | rs6695710 | Benign |
63211 | Q9HCE6 (ARHGEF10L) | I | V | 1219 | rs2270976 | Benign |
63212 | Q9HCE7 (SMURF1) | S | Y | 466 | rs13246077 | Benign |
63213 | Q9HCF6 (TRPM3) | T | I | 1653 | rs13440436 | Benign |
63214 | Q9HCF6 (TRPM3) | R | Q | 1695 | rs6560142 | Benign |
63215 | Q9HCF6 (TRPM3) | R | K | 1717 | rs41287373 | Benign |
63216 | Q9HCF6 (TRPM3) | N | T | 1732 | rs17535963 | Benign |
63217 | Q9HCG1 (ZNF160) | R | Q | 7 | rs329709 | Benign |
63218 | Q9HCG1 (ZNF160) | P | R | 82 | rs8105668 | Benign |
63219 | Q9HCG7 (GBA2) | D | H | 594 | rs398123064 | Disease: Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409] |
63220 | Q9HCG7 (GBA2) | R | W | 630 | rs398123012 | Disease: Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409] |
63221 | Q9HCG7 (GBA2) | R | H | 873 | rs398123015 | Disease: Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409] |
63222 | Q9HCG8 (CWC22) | A | V | 656 | rs17778270 | Benign |
63223 | Q9HCG8 (CWC22) | D | V | 741 | rs11903115 | Benign |
63224 | Q9HCG8 (CWC22) | R | Q | 794 | rs1046356 | Benign |
63225 | Q9HCH3 (CPNE5) | N | S | 33 | rs3734334 | Benign |
63226 | Q9HCH3 (CPNE5) | R | H | 582 | rs3830138 | Benign |
63227 | Q9HCI5 (MAGEE1) | S | C | 305 | rs142080557 | Benign |
63228 | Q9HCI5 (MAGEE1) | E | D | 339 | rs7051260 | Benign |
63229 | Q9HCI6 (KIAA1586) | F | L | 75 | rs36113897 | Benign |
63230 | Q9HCI6 (KIAA1586) | V | M | 81 | rs6926980 | Benign |
63231 | Q9HCJ0 (TNRC6C) | P | R | 820 | rs34293811 | Benign |
63232 | Q9HCJ1 (ANKH) | P | L | 5 | rs121908409 | Disease: Chondrocalci nosis 2 (CCAL2) [MIM:118600] |
63233 | Q9HCJ1 (ANKH) | P | T | 5 | rs121908410 | Disease: Chondrocalci nosis 2 (CCAL2) [MIM:118600] |
63234 | Q9HCJ1 (ANKH) | M | T | 48 | rs121908407 | Disease: Chondrocalci nosis 2 (CCAL2) [MIM:118600] |
63235 | Q9HCJ1 (ANKH) | W | R | 292 | - | Disease: Craniometaph yseal dysplasia, autosomal dominant (CMDD) [MIM:123000] |
63236 | Q9HCJ1 (ANKH) | C | R | 331 | - | Disease: Craniometaph yseal dysplasia, autosomal dominant (CMDD) [MIM:123000] |
63237 | Q9HCJ1 (ANKH) | G | R | 389 | rs28939080 | Disease: Craniometaph yseal dysplasia, autosomal dominant (CMDD) [MIM:123000] |
63238 | Q9HCJ5 (ZSWIM6) | S | R | 763 | - | Benign |
63239 | Q9HCJ5 (ZSWIM6) | R | W | 1163 | rs587777695 | Disease: Acromelic frontonasal dysostosis (AFND) [MIM:603671] |
63240 | Q9HCK0 (ZBTB26) | H | R | 236 | rs7856488 | Benign |
63241 | Q9HCK1 (ZDBF2) | R | K | 160 | rs10932150 | Benign |
63242 | Q9HCK4 (ROBO2) | I | T | 945 | rs267607014 | Disease: Vesicoureter al reflux 2 (VUR2) [MIM:610878] |
63243 | Q9HCK4 (ROBO2) | A | T | 1236 | rs267607015 | Disease: Vesicoureter al reflux 2 (VUR2) [MIM:610878] |
63244 | Q9HCL2 (GPAM) | S | Y | 4 | rs11549703 | Benign |
63245 | Q9HCL2 (GPAM) | I | V | 43 | rs2792751 | Benign |
63246 | Q9HCL2 (GPAM) | E | G | 131 | rs10787428 | Benign |
63247 | Q9HCL2 (GPAM) | I | T | 386 | rs35019520 | Benign |
63248 | Q9HCM1 (RESF1) | I | V | 59 | rs7298803 | Benign |
63249 | Q9HCM1 (RESF1) | H | Q | 106 | rs2388981 | Benign |
63250 | Q9HCM1 (RESF1) | P | S | 147 | rs61353224 | Benign |
63251 | Q9HCM1 (RESF1) | I | V | 202 | rs12320740 | Benign |
63252 | Q9HCM1 (RESF1) | L | P | 250 | rs2166807 | Benign |
63253 | Q9HCM1 (RESF1) | R | Q | 309 | rs16919122 | Benign |
63254 | Q9HCM1 (RESF1) | S | N | 346 | rs3207618 | Benign |
63255 | Q9HCM1 (RESF1) | S | G | 352 | rs10771894 | Benign |
63256 | Q9HCM1 (RESF1) | S | T | 433 | rs3759302 | Benign |
63257 | Q9HCM1 (RESF1) | S | P | 518 | rs3759301 | Benign |
63258 | Q9HCM1 (RESF1) | F | S | 954 | rs3809228 | Benign |
63259 | Q9HCM1 (RESF1) | T | K | 1010 | rs16919127 | Benign |
63260 | Q9HCM1 (RESF1) | S | C | 1208 | rs3759299 | Benign |
63261 | Q9HCM1 (RESF1) | V | I | 1226 | rs1057994 | Benign |
63262 | Q9HCM1 (RESF1) | T | A | 1338 | rs3759296 | Benign |
63263 | Q9HCM1 (RESF1) | M | T | 1479 | rs56682866 | Benign |
63264 | Q9HCM3 (KIAA1549) | A | P | 448 | rs2718131 | Benign |
63265 | Q9HCM3 (KIAA1549) | P | L | 652 | rs2774960 | Benign |
63266 | Q9HCM3 (KIAA1549) | V | G | 851 | rs2354336 | Benign |
63267 | Q9HCM4 (EPB41L5) | H | Y | 334 | rs28930677 | Benign |
63268 | Q9HCM4 (EPB41L5) | A | T | 462 | rs1034489 | Benign |
63269 | Q9HCM7 (FBRSL1) | L | P | 367 | rs879759065 | Benign |
63270 | Q9HCN2 (TP53AIP1) | A | V | 7 | rs35942033 | Benign |
63271 | Q9HCN3 (PGAP6) | T | A | 136 | rs11248931 | Benign |
63272 | Q9HCN3 (PGAP6) | I | V | 310 | rs2071915 | Benign |
63273 | Q9HCN3 (PGAP6) | R | W | 567 | rs3743887 | Benign |
63274 | Q9HCN6 (GP6) | R | C | 58 | rs199588110 | Disease: Bleeding disorder, platelet- type 11 (BDPLT11) [MIM:614201] |
63275 | Q9HCN6 (GP6) | S | N | 175 | rs387906919 | Disease: Bleeding disorder, platelet- type 11 (BDPLT11) [MIM:614201] |
63276 | Q9HCN6 (GP6) | P | S | 219 | rs1613662 | Benign |
63277 | Q9HCN6 (GP6) | E | K | 237 | rs1654416 | Benign |
63278 | Q9HCN6 (GP6) | A | T | 249 | rs2304167 | Benign |
63279 | Q9HCN6 (GP6) | L | Q | 317 | rs1654413 | Benign |
63280 | Q9HCN6 (GP6) | N | H | 322 | rs1671152 | Benign |
63281 | Q9HCN6 (GP6) | R | G | 335 | rs1654412 | Benign |
63282 | Q9HCP0 (CSNK1G1) | R | K | 206 | rs55799101 | Benign |
63283 | Q9HCP0 (CSNK1G1) | R | W | 230 | rs587777544 | Disease: - |
63284 | Q9HCP0 (CSNK1G1) | V | I | 329 | rs55699712 | Benign |
63285 | Q9HCP6 (HHATL) | M | V | 403 | rs11079 | Benign |
63286 | Q9HCQ7 (NPVF) | I | M | 32 | rs886354 | Benign |
63287 | Q9HCQ7 (NPVF) | D | G | 42 | rs877834 | Benign |
63288 | Q9HCQ7 (NPVF) | V | M | 121 | rs3213641 | Benign |
63289 | Q9HCR9 (PDE11A) | R | H | 804 | rs75127279 | Benign |
63290 | Q9HCR9 (PDE11A) | R | G | 867 | rs61306957 | Benign |
63291 | Q9HCS2 (CYP4F12) | P | L | 13 | rs16995376 | Benign |
63292 | Q9HCS2 (CYP4F12) | T | M | 16 | rs16995378 | Benign |
63293 | Q9HCS2 (CYP4F12) | N | D | 76 | rs609636 | Benign |
63294 | Q9HCS2 (CYP4F12) | V | I | 90 | rs609290 | Benign |
63295 | Q9HCS2 (CYP4F12) | R | C | 188 | rs2285888 | Benign |
63296 | Q9HCS2 (CYP4F12) | S | G | 522 | rs593818 | Benign |
63297 | Q9HCS4 (TCF7L1) | G | R | 533 | rs11547160 | Benign |
63298 | Q9HCS5 (EPB41L4A) | V | I | 132 | rs34008454 | Benign |
63299 | Q9HCS7 (XAB2) | V | I | 126 | rs4134822 | Benign |
63300 | Q9HCS7 (XAB2) | R | Q | 454 | rs4134850 | Benign |
63301 | Q9HCS7 (XAB2) | A | T | 702 | rs4134865 | Benign |
63302 | Q9HCU0 (CD248) | H | R | 457 | rs3741367 | Benign |
63303 | Q9HCU4 (CELSR2) | R | Q | 1066 | rs12083590 | Benign |
63304 | Q9HCU4 (CELSR2) | Y | H | 1639 | rs653635 | Benign |
63305 | Q9HCU4 (CELSR2) | G | R | 1992 | rs12567377 | Benign |
63306 | Q9HCU4 (CELSR2) | T | A | 2387 | rs17035649 | Benign |
63307 | Q9HCU8 (POLD4) | R | P | 39 | rs28364240 | Benign |
63308 | Q9HCU8 (POLD4) | G | R | 59 | rs34136263 | Benign |
63309 | Q9HCX3 (ZNF304) | L | P | 121 | rs862708 | Benign |
63310 | Q9HCX3 (ZNF304) | K | E | 367 | rs862709 | Benign |
63311 | Q9HCZ1 (ZNF334) | N | S | 547 | rs3764690 | Benign |
63312 | Q9HD15 (SRA1) | Q | E | 32 | rs35610885 | Benign |
63313 | Q9HD23 (MRS2) | P | S | 35 | rs2295651 | Benign |
63314 | Q9HD23 (MRS2) | P | S | 412 | rs35261004 | Benign |
63315 | Q9HD33 (MRPL47) | C | G | 10 | rs2339844 | Benign |
63316 | Q9HD33 (MRPL47) | R | H | 213 | rs10513762 | Benign |
63317 | Q9HD34 (LYRM4) | S | A | 11 | rs2224391 | Benign |
63318 | Q9HD34 (LYRM4) | R | L | 68 | rs587777218 | Disease: Combined oxidative phosphorylat ion deficiency 19 (COXPD19) [MIM:615595] |
63319 | Q9HD36 (BCL2L10) | L | R | 21 | rs2231292 | Benign |
63320 | Q9HD40 (SEPSECS) | A | T | 239 | rs267607035 | Disease: Pontocerebel lar hypoplasia 2D (PCH2D) [MIM:613811] |
63321 | Q9HD40 (SEPSECS) | T | S | 325 | rs1461368206 | Disease: Pontocerebel lar hypoplasia 2D (PCH2D) [MIM:613811] |
63322 | Q9HD40 (SEPSECS) | Y | C | 334 | rs267607036 | Disease: Pontocerebel lar hypoplasia 2D (PCH2D) [MIM:613811] |
63323 | Q9HD43 (PTPRH) | D | N | 232 | rs55870162 | Benign |
63324 | Q9HD43 (PTPRH) | V | I | 243 | rs45535035 | Benign |
63325 | Q9HD43 (PTPRH) | H | Y | 348 | rs2288515 | Benign |
63326 | Q9HD43 (PTPRH) | L | F | 543 | rs16986309 | Benign |
63327 | Q9HD43 (PTPRH) | K | N | 781 | rs2288523 | Benign |
63328 | Q9HD43 (PTPRH) | E | K | 823 | rs890870 | Benign |
63329 | Q9HD43 (PTPRH) | G | D | 831 | rs36092369 | Benign |
63330 | Q9HD43 (PTPRH) | I | V | 1076 | rs2288419 | Benign |
63331 | Q9HD67 (MYO10) | V | I | 32 | rs17707947 | Benign |
63332 | Q9HD67 (MYO10) | H | Y | 148 | rs7737765 | Benign |
63333 | Q9HD67 (MYO10) | E | D | 273 | rs6870170 | Benign |
63334 | Q9HD67 (MYO10) | R | W | 324 | rs11750538 | Benign |
63335 | Q9HD67 (MYO10) | R | Q | 700 | rs26740 | Benign |
63336 | Q9HD67 (MYO10) | S | T | 1663 | rs25901 | Benign |
63337 | Q9HD90 (NEUROD4) | K | T | 68 | rs76064726 | Benign |
63338 | Q9HDC5 (JPH1) | T | M | 507 | rs16938829 | Benign |
63339 | Q9HDC5 (JPH1) | D | H | 624 | rs16938828 | Benign |
63340 | Q9HDC9 (APMAP) | I | V | 65 | rs12242 | Benign |
63341 | Q9HDC9 (APMAP) | R | Q | 282 | rs35097515 | Benign |
63342 | Q9HDC9 (APMAP) | R | W | 374 | rs28364786 | Benign |
63343 | Q9N2K0 (-) | V | L | 81 | - | Benign |
63344 | Q9N2K0 (-) | F | L | 150 | - | Benign |
63345 | Q9NNW7 (TXNRD2) | R | L | 14 | rs45593642 | Benign |
63346 | Q9NNW7 (TXNRD2) | A | S | 66 | rs5748469 | Benign |
63347 | Q9NNW7 (TXNRD2) | S | R | 299 | rs5992495 | Benign |
63348 | Q9NNW7 (TXNRD2) | I | T | 370 | rs1139793 | Benign |
63349 | Q9NNX1 (TUFT1) | Q | R | 18 | rs3828054 | Benign |
63350 | Q9NNX1 (TUFT1) | K | R | 296 | rs16833395 | Benign |
63351 | Q9NNX6 (CD209) | E | D | 168 | rs1003686123 | Benign |
63352 | Q9NNX6 (CD209) | E | D | 214 | rs11465377 | Benign |
63353 | Q9NNX6 (CD209) | L | V | 242 | rs11465380 | Benign |
63354 | Q9NNX6 (CD209) | A | S | 382 | rs11465393 | Benign |
63355 | Q9NNZ6 (PRM3) | Q | R | 100 | rs429744 | Benign |
63356 | Q9NP31 (SH2D2A) | N | S | 52 | rs926103 | Benign |
63357 | Q9NP31 (SH2D2A) | R | C | 272 | rs12072861 | Benign |
63358 | Q9NP50 (SINHCAF) | R | H | 117 | rs2304459 | Benign |
63359 | Q9NP58 (ABCB6) | S | G | 170 | rs397514757 | Disease: Dyschromatos is universalis hereditaria 3 (DUH3) [MIM:615402] |
63360 | Q9NP58 (ABCB6) | L | V | 293 | rs13018440 | Benign |
63361 | Q9NP58 (ABCB6) | S | R | 322 | - | Disease: Dyschromatos is universalis hereditaria 3 (DUH3) [MIM:615402] |
63362 | Q9NP58 (ABCB6) | R | Q | 343 | rs60322991 | Benign |
63363 | Q9NP58 (ABCB6) | L | P | 356 | rs397514756 | Disease: Dyschromatos is universalis hereditaria 3 (DUH3) [MIM:615402] |
63364 | Q9NP58 (ABCB6) | R | Q | 375 | rs754667801 | Disease: Pseudohyperk alemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153] |
63365 | Q9NP58 (ABCB6) | R | W | 375 | rs764893806 | Disease: Pseudohyperk alemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153] |
63366 | Q9NP58 (ABCB6) | Y | H | 424 | - | Disease: Dyschromatos is universalis hereditaria 3 (DUH3) [MIM:615402] |
63367 | Q9NP58 (ABCB6) | A | V | 453 | - | Disease: Dyschromatos is universalis hereditaria 3 (DUH3) [MIM:615402] |
63368 | Q9NP58 (ABCB6) | Q | K | 555 | rs796065353 | Disease: Dyschromatos is universalis hereditaria 3 (DUH3) [MIM:615402] |
63369 | Q9NP58 (ABCB6) | G | E | 579 | rs397514758 | Disease: Dyschromatos is universalis hereditaria 3 (DUH3) [MIM:615402] |
63370 | Q9NP58 (ABCB6) | R | Q | 648 | rs13402964 | Benign |
63371 | Q9NP58 (ABCB6) | R | Q | 723 | rs148211042 | Disease: Pseudohyperk alemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153] |
63372 | Q9NP58 (ABCB6) | L | V | 811 | rs387906910 | Disease: Microphthalm ia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497] |
63373 | Q9NP59 (SLC40A1) | Y | N | 64 | rs1285653301 | Disease: Hemochromato sis 4 (HFE4) [MIM:606069] |
63374 | Q9NP59 (SLC40A1) | A | D | 77 | rs28939076 | Disease: Hemochromato sis 4 (HFE4) [MIM:606069] |
63375 | Q9NP59 (SLC40A1) | G | S | 80 | rs978427853 | Benign |
63376 | Q9NP59 (SLC40A1) | G | V | 80 | rs104893673 | Disease: Hemochromato sis 4 (HFE4) [MIM:606069] |
63377 | Q9NP59 (SLC40A1) | N | D | 144 | - | Disease: Hemochromato sis 4 (HFE4) [MIM:606069] |
63378 | Q9NP59 (SLC40A1) | N | H | 144 | rs104893662 | Disease: Hemochromato sis 4 (HFE4) [MIM:606069] |
63379 | Q9NP59 (SLC40A1) | N | T | 144 | rs1434101655 | Disease: Hemochromato sis 4 (HFE4) [MIM:606069] |
63380 | Q9NP59 (SLC40A1) | D | G | 157 | rs104893663 | Disease: Hemochromato sis 4 (HFE4) [MIM:606069] |
63381 | Q9NP59 (SLC40A1) | N | I | 174 | rs1397119020 | Benign |
63382 | Q9NP59 (SLC40A1) | D | V | 181 | rs104893672 | Disease: Hemochromato sis 4 (HFE4) [MIM:606069] |
63383 | Q9NP59 (SLC40A1) | Q | H | 182 | rs104893670 | Disease: Hemochromato sis 4 (HFE4) [MIM:606069] |
63384 | Q9NP59 (SLC40A1) | Q | H | 248 | rs11568350 | Benign |
63385 | Q9NP59 (SLC40A1) | G | D | 267 | rs104893664 | Disease: Hemochromato sis 4 (HFE4) [MIM:606069] |
63386 | Q9NP59 (SLC40A1) | D | V | 270 | rs368420430 | Disease: Hemochromato sis 4 (HFE4) [MIM:606069] |
63387 | Q9NP59 (SLC40A1) | G | V | 323 | rs104893671 | Disease: Hemochromato sis 4 (HFE4) [MIM:606069] |
63388 | Q9NP59 (SLC40A1) | M | V | 432 | rs11568355 | Benign |
63389 | Q9NP59 (SLC40A1) | P | L | 443 | rs45606432 | Benign |
63390 | Q9NP59 (SLC40A1) | G | D | 490 | rs1060501102 | Benign |
63391 | Q9NP59 (SLC40A1) | R | G | 561 | rs11568346 | Benign |
63392 | Q9NP61 (ARFGAP3) | S | G | 231 | rs9607957 | Benign |
63393 | Q9NP61 (ARFGAP3) | S | R | 355 | rs1018448 | Benign |
63394 | Q9NP61 (ARFGAP3) | S | G | 370 | rs16986123 | Benign |
63395 | Q9NP61 (ARFGAP3) | Q | H | 468 | rs35498349 | Benign |
63396 | Q9NP61 (ARFGAP3) | A | T | 482 | rs36003980 | Benign |
63397 | Q9NP61 (ARFGAP3) | Q | R | 490 | rs11551619 | Benign |
63398 | Q9NP70 (AMBN) | A | V | 255 | rs7439186 | Benign |
63399 | Q9NP70 (AMBN) | L | P | 354 | rs72654387 | Benign |
63400 | Q9NP70 (AMBN) | H | R | 439 | rs375426598 | Benign |
63401 | Q9NP71 (MLXIPL) | Q | H | 241 | rs3812316 | Benign |
63402 | Q9NP71 (MLXIPL) | D | E | 244 | rs34922362 | Benign |
63403 | Q9NP72 (RAB18) | L | Q | 24 | rs387906832 | Disease: Warburg micro syndrome 3 (WARBM3) [MIM:614222] |
63404 | Q9NP72 (RAB18) | N | S | 113 | rs12268932 | Benign |
63405 | Q9NP72 (RAB18) | A | T | 198 | rs11015859 | Benign |
63406 | Q9NP73 (ALG13) | K | E | 94 | rs867599353 | Disease: Epileptic encephalopat hy, early infantile, 36 (EIEE36) [MIM:300884] |
63407 | Q9NP73 (ALG13) | N | S | 107 | rs398122394 | Disease: Epileptic encephalopat hy, early infantile, 36 (EIEE36) [MIM:300884] |
63408 | Q9NP74 (PALMD) | H | Q | 73 | rs11802902 | Benign |
63409 | Q9NP74 (PALMD) | N | S | 229 | rs35258980 | Benign |
63410 | Q9NP74 (PALMD) | E | D | 459 | rs35317701 | Benign |
63411 | Q9NP78 (ABCB9) | V | M | 121 | rs3803002 | Benign |
63412 | Q9NP79 (VTA1) | I | M | 239 | rs2232307 | Benign |
63413 | Q9NP81 (SARS2) | T | A | 35 | rs34264048 | Benign |
63414 | Q9NP81 (SARS2) | S | L | 83 | rs34050897 | Benign |
63415 | Q9NP81 (SARS2) | D | G | 390 | rs727502784 | Disease: Hyperuricemi a, pulmonary hypertension , renal failure, and alkalosis syndrome (HUPRAS) [MIM:613845] |
63416 | Q9NP85 (NPHS2) | R | G | 3 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63417 | Q9NP85 (NPHS2) | R | T | 18 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63418 | Q9NP85 (NPHS2) | P | L | 20 | rs74315344 | Benign |
63419 | Q9NP85 (NPHS2) | R | M | 26 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63420 | Q9NP85 (NPHS2) | K | M | 28 | rs1340195940 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63421 | Q9NP85 (NPHS2) | A | T | 29 | rs561887984 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63422 | Q9NP85 (NPHS2) | E | K | 30 | rs1477180313 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63423 | Q9NP85 (NPHS2) | E | Q | 30 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63424 | Q9NP85 (NPHS2) | G | E | 34 | - | Benign |
63425 | Q9NP85 (NPHS2) | Q | L | 39 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63426 | Q9NP85 (NPHS2) | E | A | 44 | - | Benign |
63427 | Q9NP85 (NPHS2) | A | V | 61 | rs201050491 | Benign |
63428 | Q9NP85 (NPHS2) | P | T | 89 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63429 | Q9NP85 (NPHS2) | G | C | 92 | rs74315345 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63430 | Q9NP85 (NPHS2) | L | P | 107 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63431 | Q9NP85 (NPHS2) | M | T | 115 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63432 | Q9NP85 (NPHS2) | T | P | 116 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63433 | Q9NP85 (NPHS2) | P | L | 118 | rs869025495 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63434 | Q9NP85 (NPHS2) | W | L | 122 | rs750332447 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63435 | Q9NP85 (NPHS2) | W | S | 122 | rs750332447 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63436 | Q9NP85 (NPHS2) | C | W | 124 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63437 | Q9NP85 (NPHS2) | K | N | 126 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63438 | Q9NP85 (NPHS2) | R | Q | 138 | rs74315342 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63439 | Q9NP85 (NPHS2) | L | R | 139 | rs1345260812 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63440 | Q9NP85 (NPHS2) | L | P | 142 | rs12240233 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63441 | Q9NP85 (NPHS2) | D | G | 160 | rs74315346 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63442 | Q9NP85 (NPHS2) | R | C | 168 | rs786204583 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63443 | Q9NP85 (NPHS2) | R | H | 168 | rs530318579 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63444 | Q9NP85 (NPHS2) | R | S | 168 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63445 | Q9NP85 (NPHS2) | P | V | 175 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63446 | Q9NP85 (NPHS2) | V | M | 180 | rs74315347 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63447 | Q9NP85 (NPHS2) | D | Y | 183 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63448 | Q9NP85 (NPHS2) | I | V | 192 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63449 | Q9NP85 (NPHS2) | A | T | 208 | rs200587413 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63450 | Q9NP85 (NPHS2) | S | A | 211 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63451 | Q9NP85 (NPHS2) | A | T | 213 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63452 | Q9NP85 (NPHS2) | V | G | 218 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63453 | Q9NP85 (NPHS2) | T | I | 221 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63454 | Q9NP85 (NPHS2) | H | D | 228 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63455 | Q9NP85 (NPHS2) | R | L | 229 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63456 | Q9NP85 (NPHS2) | R | Q | 229 | rs61747728 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63457 | Q9NP85 (NPHS2) | E | Q | 237 | rs146906190 | Benign |
63458 | Q9NP85 (NPHS2) | R | S | 238 | rs748812981 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63459 | Q9NP85 (NPHS2) | A | V | 242 | rs61747727 | Benign |
63460 | Q9NP85 (NPHS2) | V | E | 260 | rs775006954 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63461 | Q9NP85 (NPHS2) | E | Q | 264 | rs369697947 | Benign |
63462 | Q9NP85 (NPHS2) | D | N | 267 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63463 | Q9NP85 (NPHS2) | V | L | 268 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63464 | Q9NP85 (NPHS2) | H | L | 276 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63465 | Q9NP85 (NPHS2) | E | A | 281 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63466 | Q9NP85 (NPHS2) | E | K | 281 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63467 | Q9NP85 (NPHS2) | V | M | 290 | rs200482683 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63468 | Q9NP85 (NPHS2) | R | W | 291 | rs74315348 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63469 | Q9NP85 (NPHS2) | E | K | 296 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63470 | Q9NP85 (NPHS2) | A | V | 297 | rs199506378 | Benign |
63471 | Q9NP85 (NPHS2) | A | V | 309 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63472 | Q9NP85 (NPHS2) | R | Q | 322 | rs776859868 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63473 | Q9NP85 (NPHS2) | P | S | 341 | rs1214047676 | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63474 | Q9NP85 (NPHS2) | V | G | 370 | - | Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995] |
63475 | Q9NP86 (CABP5) | T | R | 65 | rs34862923 | Benign |
63476 | Q9NP86 (CABP5) | L | P | 80 | rs8105198 | Benign |
63477 | Q9NP86 (CABP5) | V | A | 128 | rs3745746 | Benign |
63478 | Q9NP86 (CABP5) | E | K | 140 | rs34681062 | Benign |
63479 | Q9NP86 (CABP5) | I | S | 147 | rs10425606 | Benign |
63480 | Q9NP87 (POLM) | E | D | 107 | rs28382635 | Benign |
63481 | Q9NP87 (POLM) | G | A | 220 | rs28382644 | Benign |
63482 | Q9NP87 (POLM) | V | F | 246 | rs28382653 | Benign |
63483 | Q9NP87 (POLM) | L | F | 484 | rs28382661 | Benign |
63484 | Q9NP91 (SLC6A20) | A | G | 9 | rs2271615 | Benign |
63485 | Q9NP91 (SLC6A20) | T | M | 199 | rs17279437 | Benign |
63486 | Q9NP92 (MRPS30) | C | S | 33 | rs3747479 | Benign |
63487 | Q9NP92 (MRPS30) | A | V | 102 | rs35601455 | Benign |
63488 | Q9NP94 (SLC39A2) | L | P | 48 | rs2234633 | Benign |
63489 | Q9NP94 (SLC39A2) | M | V | 80 | rs2234634 | Benign |
63490 | Q9NP94 (SLC39A2) | F | L | 115 | rs2234636 | Benign |
63491 | Q9NP94 (SLC39A2) | G | E | 129 | rs6413532 | Benign |
63492 | Q9NP94 (SLC39A2) | H | Y | 154 | rs2234637 | Benign |
63493 | Q9NP95 (FGF20) | G | R | 116 | rs3793405 | Benign |
63494 | Q9NP95 (FGF20) | P | A | 175 | rs10089600 | Benign |
63495 | Q9NP95 (FGF20) | D | N | 206 | rs17550360 | Benign |
63496 | Q9NP97 (DYNLRB1) | S | R | 13 | rs1063616 | Benign |
63497 | Q9NP97 (DYNLRB1) | I | F | 71 | rs10036 | Benign |
63498 | Q9NP99 (TREM1) | T | S | 25 | rs2234237 | Benign |
63499 | Q9NP99 (TREM1) | K | T | 135 | rs34727391 | Benign |
63500 | Q9NP99 (TREM1) | F | L | 214 | rs2234245 | Benign |
63501 | Q9NPA1 (KCNMB3) | D | G | 44 | rs1170672 | Benign |
63502 | Q9NPA1 (KCNMB3) | A | T | 53 | rs7645550 | Benign |
63503 | Q9NPA1 (KCNMB3) | L | V | 75 | rs2276802 | Benign |
63504 | Q9NPA1 (KCNMB3) | N | S | 165 | rs55710741 | Benign |
63505 | Q9NPA1 (KCNMB3) | M | T | 230 | rs145985409 | Benign |
63506 | Q9NPB3 (CABP2) | R | Q | 94 | rs2276118 | Benign |
63507 | Q9NPB6 (PARD6A) | V | I | 286 | rs35356834 | Benign |
63508 | Q9NPB8 (GPCPD1) | T | I | 273 | rs2273373 | Benign |
63509 | Q9NPC2 (KCNK9) | G | R | 236 | rs121908332 | Disease: Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292] |
63510 | Q9NPC4 (A4GALT) | M | V | 37 | rs11541159 | Benign |
63511 | Q9NPC4 (A4GALT) | Q | R | 163 | rs28915383 | Benign |
63512 | Q9NPC4 (A4GALT) | M | K | 183 | rs74315453 | Benign |
63513 | Q9NPC4 (A4GALT) | G | D | 187 | rs28940572 | Benign |
63514 | Q9NPC4 (A4GALT) | Q | E | 211 | rs397514502 | Benign |
63515 | Q9NPC4 (A4GALT) | P | L | 251 | rs28940571 | Benign |
63516 | Q9NPC6 (MYOZ2) | S | P | 48 | rs199476398 | Disease: Cardiomyopat hy, familial hypertrophic 16 (CMH16) [MIM:613838] |
63517 | Q9NPC6 (MYOZ2) | I | M | 246 | rs140126678 | Disease: Cardiomyopat hy, familial hypertrophic 16 (CMH16) [MIM:613838] |
63518 | Q9NPC8 (SIX2) | L | F | 43 | rs142188105 | Benign |
63519 | Q9NPC8 (SIX2) | P | L | 241 | rs147806994 | Benign |
63520 | Q9NPC8 (SIX2) | D | N | 276 | rs201675842 | Benign |
63521 | Q9NPD5 (SLCO1B3) | S | A | 112 | rs4149117 | Benign |
63522 | Q9NPD5 (SLCO1B3) | M | I | 233 | rs7311358 | Benign |
63523 | Q9NPD5 (SLCO1B3) | G | A | 256 | rs60140950 | Benign |
63524 | Q9NPD5 (SLCO1B3) | V | A | 560 | rs12299012 | Benign |
63525 | Q9NPD8 (UBE2T) | Q | E | 2 | rs774357609 | Disease: Fanconi anemia complementat ion group T (FANCT) [MIM:616435] |
63526 | Q9NPE2 (NGRN) | L | F | 174 | rs11073922 | Benign |
63527 | Q9NPE2 (NGRN) | D | G | 267 | rs16944113 | Benign |
63528 | Q9NPE3 (NOP10) | R | W | 34 | rs121908092 | Disease: Dyskeratosis congenita, autosomal recessive, 1 (DKCB1) [MIM:224230] |
63529 | Q9NPF0 (CD320) | Q | R | 8 | rs2232775 | Benign |
63530 | Q9NPF0 (CD320) | S | G | 142 | - | Benign |
63531 | Q9NPF0 (CD320) | G | R | 220 | rs2336573 | Benign |
63532 | Q9NPF4 (OSGEP) | I | F | 14 | rs1555331969 | Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729] |
63533 | Q9NPF4 (OSGEP) | K | E | 78 | rs200347983 | Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729] |
63534 | Q9NPF4 (OSGEP) | V | M | 107 | rs140583554 | Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729] |
63535 | Q9NPF4 (OSGEP) | C | R | 110 | rs140076803 | Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729] |
63536 | Q9NPF4 (OSGEP) | I | T | 111 | rs1443735811 | Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729] |
63537 | Q9NPF4 (OSGEP) | I | T | 139 | rs1334263407 | Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729] |
63538 | Q9NPF4 (OSGEP) | G | A | 177 | rs778931753 | Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729] |
63539 | Q9NPF4 (OSGEP) | K | R | 198 | - | Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729] |
63540 | Q9NPF4 (OSGEP) | R | Q | 247 | rs773173317 | Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729] |
63541 | Q9NPF4 (OSGEP) | R | C | 280 | rs374322839 | Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729] |
63542 | Q9NPF4 (OSGEP) | R | H | 280 | rs144732839 | Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729] |
63543 | Q9NPF4 (OSGEP) | R | L | 280 | rs144732839 | Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729] |
63544 | Q9NPF4 (OSGEP) | R | Q | 325 | rs753237335 | Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729] |
63545 | Q9NPF4 (OSGEP) | R | W | 325 | rs761839638 | Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729] |
63546 | Q9NPG1 (FZD3) | T | S | 4 | rs140115204 | Benign |
63547 | Q9NPG1 (FZD3) | L | M | 199 | rs757589666 | Benign |
63548 | Q9NPG1 (FZD3) | I | V | 545 | rs199839949 | Benign |
63549 | Q9NPG3 (UBN1) | Y | C | 435 | rs35103368 | Benign |
63550 | Q9NPG4 (PCDH12) | R | G | 55 | rs200451693 | Benign |
63551 | Q9NPG4 (PCDH12) | H | N | 385 | rs164075 | Benign |
63552 | Q9NPG4 (PCDH12) | S | N | 640 | rs164515 | Benign |
63553 | Q9NPG8 (ZDHHC4) | V | M | 53 | rs11559146 | Benign |
63554 | Q9NPH0 (ACP6) | M | V | 316 | rs6593795 | Benign |
63555 | Q9NPH3 (IL1RAP) | V | M | 473 | rs34661910 | Benign |
63556 | Q9NPH5 (NOX4) | M | I | 315 | rs317139 | Benign |
63557 | Q9NPH6 (OBP2B) | V | I | 167 | rs11244035 | Benign |
63558 | Q9NPI0 (TMEM138) | H | R | 96 | rs387907132 | Disease: Joubert syndrome 16 (JBTS16) [MIM:614465] |
63559 | Q9NPI0 (TMEM138) | A | T | 126 | rs387907134 | Disease: Joubert syndrome 16 (JBTS16) [MIM:614465] |
63560 | Q9NPI0 (TMEM138) | A | V | 127 | rs387907133 | Disease: Joubert syndrome 16 (JBTS16) [MIM:614465] |
63561 | Q9NPI0 (TMEM138) | Y | C | 130 | rs387907135 | Disease: Joubert syndrome 16 (JBTS16) [MIM:614465] |
63562 | Q9NPI5 (NMRK2) | E | K | 178 | rs16992131 | Benign |
63563 | Q9NPI8 (FANCF) | V | I | 295 | rs7103293 | Benign |
63564 | Q9NPI8 (FANCF) | P | L | 320 | rs45451294 | Benign |
63565 | Q9NPI9 (KCNJ16) | I | V | 11 | rs9302912 | Benign |
63566 | Q9NPJ1 (MKKS) | I | M | 32 | - | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63567 | Q9NPJ1 (MKKS) | Y | C | 37 | rs74315396 | Disease: McKusick- Kaufman syndrome (MKKS) [MIM:236700] |
63568 | Q9NPJ1 (MKKS) | G | R | 41 | rs766132697 | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63569 | Q9NPJ1 (MKKS) | G | V | 49 | rs528833454 | Benign |
63570 | Q9NPJ1 (MKKS) | G | D | 52 | rs28937875 | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63571 | Q9NPJ1 (MKKS) | T | A | 57 | rs74315399 | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63572 | Q9NPJ1 (MKKS) | H | Y | 84 | rs281797258 | Disease: McKusick- Kaufman syndrome (MKKS) [MIM:236700] |
63573 | Q9NPJ1 (MKKS) | C | R | 99 | rs1297985227 | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63574 | Q9NPJ1 (MKKS) | R | L | 155 | rs138111422 | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63575 | Q9NPJ1 (MKKS) | A | P | 181 | - | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63576 | Q9NPJ1 (MKKS) | S | P | 236 | - | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63577 | Q9NPJ1 (MKKS) | T | A | 237 | rs760185677 | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63578 | Q9NPJ1 (MKKS) | T | P | 237 | - | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63579 | Q9NPJ1 (MKKS) | L | P | 277 | rs74315398 | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63580 | Q9NPJ1 (MKKS) | D | A | 286 | - | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63581 | Q9NPJ1 (MKKS) | P | L | 299 | rs756083063 | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63582 | Q9NPJ1 (MKKS) | T | P | 325 | rs137853156 | Benign |
63583 | Q9NPJ1 (MKKS) | I | V | 339 | rs137853909 | Benign |
63584 | Q9NPJ1 (MKKS) | G | E | 345 | rs779116830 | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63585 | Q9NPJ1 (MKKS) | H | R | 395 | rs912923677 | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63586 | Q9NPJ1 (MKKS) | S | P | 460 | - | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63587 | Q9NPJ1 (MKKS) | A | T | 488 | rs61734546 | Benign |
63588 | Q9NPJ1 (MKKS) | D | N | 492 | rs142327258 | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63589 | Q9NPJ1 (MKKS) | C | S | 499 | rs281797259 | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63590 | Q9NPJ1 (MKKS) | S | A | 511 | - | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63591 | Q9NPJ1 (MKKS) | R | C | 517 | rs1547 | Benign |
63592 | Q9NPJ1 (MKKS) | R | H | 518 | rs149051148 | Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] |
63593 | Q9NPJ1 (MKKS) | G | V | 532 | rs1545 | Benign |
63594 | Q9NPL8 (TIMMDC1) | N | D | 76 | rs11539377 | Benign |
63595 | Q9NPL8 (TIMMDC1) | V | I | 217 | rs57168946 | Benign |
63596 | Q9NPP4 (NLRC4) | T | S | 337 | rs587777840 | Disease: Autoinflamma tion with infantile enterocoliti s (AIFEC) [MIM:616050] |
63597 | Q9NPP4 (NLRC4) | V | A | 341 | rs587781260 | Disease: Autoinflamma tion with infantile enterocoliti s (AIFEC) [MIM:616050] |
63598 | Q9NPP4 (NLRC4) | H | P | 443 | rs606231460 | Disease: Familial cold autoinflamma tory syndrome 4 (FCAS4) [MIM:616115] |
63599 | Q9NPR2 (SEMA4B) | S | A | 797 | rs3751655 | Benign |
63600 | Q9NPR9 (GPR108) | Q | R | 36 | rs340138 | Benign |
63601 | Q9NPR9 (GPR108) | L | P | 79 | rs4807897 | Benign |
63602 | Q9NPY3 (CD93) | V | A | 318 | - | Benign |
63603 | Q9NPY3 (CD93) | P | S | 541 | rs3746731 | Benign |
63604 | Q9NQ11 (ATP13A2) | T | M | 12 | rs151117874 | Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693] |
63605 | Q9NQ11 (ATP13A2) | G | S | 49 | rs56379718 | Benign |
63606 | Q9NQ11 (ATP13A2) | F | L | 182 | - | Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693] |
63607 | Q9NQ11 (ATP13A2) | R | Q | 294 | rs56367069 | Benign |
63608 | Q9NQ11 (ATP13A2) | P | L | 389 | rs56275621 | Benign |
63609 | Q9NQ11 (ATP13A2) | G | R | 504 | rs121918227 | Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693] |
63610 | Q9NQ11 (ATP13A2) | T | I | 517 | rs1057519291 | Disease: Spastic paraplegia 78, autosomal recessive (SPG78) [MIM:617225] |
63611 | Q9NQ11 (ATP13A2) | G | R | 533 | - | Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693] |
63612 | Q9NQ11 (ATP13A2) | V | G | 578 | rs56186751 | Benign |
63613 | Q9NQ11 (ATP13A2) | A | T | 746 | rs147277743 | Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693] |
63614 | Q9NQ11 (ATP13A2) | R | W | 762 | rs55635527 | Benign |
63615 | Q9NQ11 (ATP13A2) | V | I | 776 | rs56170027 | Benign |
63616 | Q9NQ11 (ATP13A2) | M | R | 854 | rs587777053 | Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693] |
63617 | Q9NQ11 (ATP13A2) | G | R | 877 | rs144701072 | Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693] |
63618 | Q9NQ11 (ATP13A2) | I | F | 946 | rs55708915 | Benign |
63619 | Q9NQ11 (ATP13A2) | L | R | 1059 | rs137853967 | Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693] |
63620 | Q9NQ25 (SLAMF7) | H | Y | 175 | rs35325048 | Benign |
63621 | Q9NQ25 (SLAMF7) | T | M | 302 | rs2295617 | Benign |
63622 | Q9NQ31 (AKIP1) | R | K | 23 | rs1133833 | Benign |
63623 | Q9NQ31 (AKIP1) | I | T | 132 | rs35131475 | Benign |
63624 | Q9NQ32 (C11orf16) | P | L | 144 | rs2568076 | Benign |
63625 | Q9NQ32 (C11orf16) | V | L | 210 | rs11042127 | Benign |
63626 | Q9NQ33 (ASCL3) | R | L | 54 | rs4909951 | Benign |
63627 | Q9NQ36 (SCUBE2) | T | M | 591 | rs3751055 | Benign |
63628 | Q9NQ36 (SCUBE2) | Q | H | 712 | rs7395988 | Benign |
63629 | Q9NQ36 (SCUBE2) | V | G | 752 | rs12419343 | Benign |
63630 | Q9NQ36 (SCUBE2) | T | S | 791 | rs3751057 | Benign |
63631 | Q9NQ36 (SCUBE2) | P | R | 843 | rs3751059 | Benign |
63632 | Q9NQ38 (SPINK5) | Q | R | 267 | rs6892205 | Benign |
63633 | Q9NQ38 (SPINK5) | A | V | 335 | rs34482796 | Benign |
63634 | Q9NQ38 (SPINK5) | S | N | 368 | rs2303063 | Benign |
63635 | Q9NQ38 (SPINK5) | D | N | 386 | rs2303064 | Benign |
63636 | Q9NQ38 (SPINK5) | V | M | 395 | rs17775319 | Benign |
63637 | Q9NQ38 (SPINK5) | K | E | 420 | rs2303067 | Benign |
63638 | Q9NQ38 (SPINK5) | R | H | 441 | rs34393923 | Benign |
63639 | Q9NQ38 (SPINK5) | I | M | 588 | rs35877540 | Benign |
63640 | Q9NQ38 (SPINK5) | R | Q | 711 | rs3777134 | Benign |
63641 | Q9NQ38 (SPINK5) | E | D | 825 | rs2303070 | Benign |
63642 | Q9NQ38 (SPINK5) | S | R | 887 | rs28408445 | Benign |
63643 | Q9NQ38 (SPINK5) | K | E | 969 | rs3188691 | Benign |
63644 | Q9NQ38 (SPINK5) | H | R | 972 | rs17705005 | Benign |
63645 | Q9NQ40 (SLC52A3) | W | R | 17 | rs797045190 | Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] |
63646 | Q9NQ40 (SLC52A3) | N | S | 21 | rs199588390 | Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] |
63647 | Q9NQ40 (SLC52A3) | P | T | 28 | rs267606688 | Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] |
63648 | Q9NQ40 (SLC52A3) | E | K | 36 | rs267606686 | Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] |
63649 | Q9NQ40 (SLC52A3) | V | D | 58 | rs797045192 | Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] |
63650 | Q9NQ40 (SLC52A3) | E | K | 71 | rs267606683 | Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] |
63651 | Q9NQ40 (SLC52A3) | I | M | 74 | rs35655964 | Benign |
63652 | Q9NQ40 (SLC52A3) | R | W | 132 | rs267606684 | Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] |
63653 | Q9NQ40 (SLC52A3) | D | G | 174 | rs6054614 | Benign |
63654 | Q9NQ40 (SLC52A3) | F | L | 224 | rs267606685 | Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] |
63655 | Q9NQ40 (SLC52A3) | P | L | 267 | rs3746804 | Benign |
63656 | Q9NQ40 (SLC52A3) | T | M | 278 | rs3746803 | Benign |
63657 | Q9NQ40 (SLC52A3) | I | V | 303 | rs3746802 | Benign |
63658 | Q9NQ40 (SLC52A3) | L | M | 350 | rs76947760 | Benign |
63659 | Q9NQ40 (SLC52A3) | S | R | 411 | rs910857 | Benign |
63660 | Q9NQ40 (SLC52A3) | V | A | 413 | rs267606687 | Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] |
63661 | Q9NQ40 (SLC52A3) | F | L | 457 | rs779750163 | Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530] |
63662 | Q9NQ48 (LZTFL1) | L | P | 87 | rs515726135 | Disease: Bardet-Biedl syndrome 17 (BBS17) [MIM:615994] |
63663 | Q9NQ48 (LZTFL1) | K | E | 152 | rs17855512 | Benign |
63664 | Q9NQ48 (LZTFL1) | D | N | 246 | rs1129183 | Benign |
63665 | Q9NQ48 (LZTFL1) | Q | R | 251 | rs17852322 | Benign |
63666 | Q9NQ50 (MRPL40) | L | P | 11 | rs1128399 | Benign |
63667 | Q9NQ50 (MRPL40) | R | H | 129 | rs7575 | Benign |
63668 | Q9NQ55 (PPAN) | G | V | 358 | rs2305793 | Benign |
63669 | Q9NQ55 (PPAN) | Q | R | 408 | rs11559188 | Benign |
63670 | Q9NQ60 (EQTN) | N | D | 101 | rs12337286 | Benign |
63671 | Q9NQ60 (EQTN) | I | T | 110 | rs12341576 | Benign |
63672 | Q9NQ60 (EQTN) | T | K | 274 | rs41305329 | Benign |
63673 | Q9NQ66 (PLCB1) | E | K | 854 | rs2076413 | Benign |
63674 | Q9NQ75 (CASS4) | R | K | 491 | rs16979936 | Benign |
63675 | Q9NQ75 (CASS4) | T | N | 629 | rs6069755 | Benign |
63676 | Q9NQ75 (CASS4) | P | S | 660 | rs35031530 | Benign |
63677 | Q9NQ75 (CASS4) | Q | H | 780 | rs7272702 | Benign |
63678 | Q9NQ76 (MEPE) | V | I | 330 | rs17013285 | Benign |
63679 | Q9NQ79 (CRTAC1) | A | T | 253 | rs35853031 | Benign |
63680 | Q9NQ79 (CRTAC1) | V | M | 569 | rs2297935 | Benign |
63681 | Q9NQ79 (CRTAC1) | E | K | 658 | rs56007204 | Benign |
63682 | Q9NQ86 (TRIM36) | K | R | 428 | rs79290430 | Benign |
63683 | Q9NQ86 (TRIM36) | N | S | 456 | rs17137481 | Benign |
63684 | Q9NQ86 (TRIM36) | D | N | 518 | - | Disease: Anencephaly (ANPH) [MIM:206500] |
63685 | Q9NQ86 (TRIM36) | D | N | 678 | rs2974617 | Benign |
63686 | Q9NQ86 (TRIM36) | Q | E | 725 | rs3749745 | Benign |
63687 | Q9NQ87 (HEYL) | H | R | 47 | rs784625 | Benign |
63688 | Q9NQ89 (C12orf4) | L | P | 328 | rs1468772495 | Disease: Mental retardation, autosomal recessive 66 (MRT66) [MIM:618221] |
63689 | Q9NQ90 (ANO2) | V | A | 112 | rs3741903 | Benign |
63690 | Q9NQ90 (ANO2) | P | S | 147 | rs3741901 | Benign |
63691 | Q9NQ90 (ANO2) | M | I | 401 | rs17788563 | Benign |
63692 | Q9NQ90 (ANO2) | S | A | 505 | rs1860961 | Benign |
63693 | Q9NQ92 (COPRS) | S | G | 43 | rs8068049 | Benign |
63694 | Q9NQ94 (A1CF) | V | M | 555 | rs9073 | Benign |
63695 | Q9NQ94 (A1CF) | A | S | 558 | rs11817448 | Benign |
63696 | Q9NQA5 (TRPV5) | A | V | 8 | rs4252372 | Benign |
63697 | Q9NQA5 (TRPV5) | R | H | 154 | rs4236480 | Benign |
63698 | Q9NQA5 (TRPV5) | A | T | 563 | rs4252499 | Benign |
63699 | Q9NQA5 (TRPV5) | L | F | 712 | rs4252509 | Benign |
63700 | Q9NQB0 (TCF7L2) | K | N | 346 | rs2757884 | Benign |
63701 | Q9NQC1 (JADE2) | R | G | 581 | rs34200923 | Benign |
63702 | Q9NQC3 (RTN4) | D | V | 357 | rs11677099 | Benign |
63703 | Q9NQC3 (RTN4) | E | Q | 899 | rs6757519 | Benign |
63704 | Q9NQC3 (RTN4) | S | C | 920 | rs6757705 | Benign |
63705 | Q9NQC7 (CYLD) | E | G | 747 | rs121908389 | Disease: Multiple familial trichoepithe lioma 1 (MFT1) [MIM:601606] |
63706 | Q9NQC8 (IFT46) | C | Y | 9 | rs11552421 | Benign |
63707 | Q9NQE7 (PRSS16) | S | I | 104 | rs5030965 | Benign |
63708 | Q9NQE7 (PRSS16) | A | G | 204 | rs35466700 | Benign |
63709 | Q9NQE9 (HINT3) | G | A | 36 | rs2295005 | Benign |
63710 | Q9NQF3 (SERHL) | E | K | 3 | rs3213549 | Benign |
63711 | Q9NQG6 (MIEF1) | G | R | 78 | rs2272830 | Benign |
63712 | Q9NQG6 (MIEF1) | T | M | 89 | rs17001213 | Benign |
63713 | Q9NQG6 (MIEF1) | R | W | 169 | rs2232088 | Benign |
63714 | Q9NQG6 (MIEF1) | D | N | 264 | rs2232091 | Benign |
63715 | Q9NQG7 (HPS4) | E | G | 229 | rs713998 | Benign |
63716 | Q9NQG7 (HPS4) | L | V | 443 | rs2014410 | Benign |
63717 | Q9NQG7 (HPS4) | V | M | 552 | rs5752330 | Benign |
63718 | Q9NQG7 (HPS4) | H | Y | 606 | rs1894706 | Benign |
63719 | Q9NQG7 (HPS4) | Q | H | 625 | rs1894704 | Benign |
63720 | Q9NQH7 (XPNPEP3) | I | L | 450 | rs17002243 | Benign |
63721 | Q9NQH7 (XPNPEP3) | G | C | 453 | rs267607179 | Disease: Nephronophth isis-like nephropathy 1 (NPHPL1) [MIM:613159] |
63722 | Q9NQI0 (DDX4) | G | D | 148 | rs2306259 | Benign |
63723 | Q9NQI0 (DDX4) | I | V | 287 | rs2305123 | Benign |
63724 | Q9NQL9 (DMRT3) | A | T | 164 | rs10978001 | Benign |
63725 | Q9NQL9 (DMRT3) | N | T | 261 | rs7854621 | Benign |
63726 | Q9NQL9 (DMRT3) | G | V | 356 | rs16927037 | Benign |
63727 | Q9NQM4 (DNAAF6) | D | Y | 133 | - | Disease: Ciliary dyskinesia, primary, 36, X-linked (CILD36) [MIM:300991] |
63728 | Q9NQN1 (OR2S2) | R | G | 17 | rs2233558 | Benign |
63729 | Q9NQN1 (OR2S2) | V | M | 30 | rs2233559 | Benign |
63730 | Q9NQN1 (OR2S2) | P | S | 89 | rs2233560 | Benign |
63731 | Q9NQN1 (OR2S2) | R | H | 123 | rs2233563 | Benign |
63732 | Q9NQN1 (OR2S2) | M | V | 143 | rs2233564 | Benign |
63733 | Q9NQN1 (OR2S2) | T | A | 161 | rs2233565 | Benign |
63734 | Q9NQN1 (OR2S2) | V | A | 287 | rs2233570 | Benign |
63735 | Q9NQR4 (NIT2) | V | A | 231 | rs17851799 | Benign |
63736 | Q9NQR9 (G6PC2) | I | V | 171 | rs2232322 | Benign |
63737 | Q9NQR9 (G6PC2) | Y | S | 207 | rs2232323 | Benign |
63738 | Q9NQR9 (G6PC2) | V | L | 219 | rs492594 | Benign |
63739 | Q9NQR9 (G6PC2) | S | P | 324 | rs2232326 | Benign |
63740 | Q9NQR9 (G6PC2) | P | L | 340 | rs2232327 | Benign |
63741 | Q9NQR9 (G6PC2) | S | C | 342 | rs2232328 | Benign |
63742 | Q9NQS1 (AVEN) | Q | R | 228 | rs2241647 | Benign |
63743 | Q9NQS3 (NECTIN3) | R | L | 432 | rs15611 | Benign |
63744 | Q9NQS5 (GPR84) | G | D | 37 | rs11170883 | Benign |
63745 | Q9NQS5 (GPR84) | P | R | 367 | - | Benign |
63746 | Q9NQS7 (INCENP) | G | V | 2 | rs1792947 | Benign |
63747 | Q9NQS7 (INCENP) | R | H | 100 | rs12281503 | Benign |
63748 | Q9NQS7 (INCENP) | A | V | 137 | rs34441559 | Benign |
63749 | Q9NQS7 (INCENP) | M | T | 506 | rs2277283 | Benign |
63750 | Q9NQS7 (INCENP) | E | D | 644 | rs7129085 | Benign |
63751 | Q9NQT4 (EXOSC5) | T | M | 5 | rs10853751 | Benign |
63752 | Q9NQT4 (EXOSC5) | C | W | 33 | rs34500671 | Benign |
63753 | Q9NQT5 (EXOSC3) | G | A | 31 | rs387907196 | Disease: Pontocerebel lar hypoplasia 1B (PCH1B) [MIM:614678] |
63754 | Q9NQT5 (EXOSC3) | V | F | 80 | rs374550999 | Benign |
63755 | Q9NQT5 (EXOSC3) | D | A | 132 | rs141138948 | Disease: Pontocerebel lar hypoplasia 1B (PCH1B) [MIM:614678] |
63756 | Q9NQT5 (EXOSC3) | A | P | 139 | rs387907195 | Disease: Pontocerebel lar hypoplasia 1B (PCH1B) [MIM:614678] |
63757 | Q9NQT5 (EXOSC3) | Y | H | 225 | rs3208406 | Benign |
63758 | Q9NQT5 (EXOSC3) | W | R | 238 | rs672601332 | Disease: Pontocerebel lar hypoplasia 1B (PCH1B) [MIM:614678] |
63759 | Q9NQT6 (FSCN3) | A | S | 24 | rs3779536 | Benign |
63760 | Q9NQT6 (FSCN3) | H | L | 428 | rs34394613 | Benign |
63761 | Q9NQT8 (KIF13B) | V | I | 1471 | rs17526980 | Benign |
63762 | Q9NQU5 (PAK6) | M | V | 76 | rs2412504 | Benign |
63763 | Q9NQU5 (PAK6) | R | C | 103 | rs36081263 | Benign |
63764 | Q9NQU5 (PAK6) | T | I | 151 | rs35593179 | Benign |
63765 | Q9NQU5 (PAK6) | E | K | 184 | rs56349744 | Benign |
63766 | Q9NQU5 (PAK6) | G | E | 205 | rs55920845 | Benign |
63767 | Q9NQU5 (PAK6) | P | T | 208 | rs35501648 | Benign |
63768 | Q9NQU5 (PAK6) | T | M | 210 | rs34869667 | Benign |
63769 | Q9NQU5 (PAK6) | H | R | 215 | rs3743135 | Benign |
63770 | Q9NQU5 (PAK6) | P | L | 337 | rs3743137 | Benign |
63771 | Q9NQU5 (PAK6) | A | V | 376 | rs55806501 | Benign |
63772 | Q9NQU5 (PAK6) | E | K | 475 | rs34445577 | Benign |
63773 | Q9NQV6 (PRDM10) | A | T | 22 | rs11221912 | Benign |
63774 | Q9NQV6 (PRDM10) | T | A | 573 | rs2241571 | Benign |
63775 | Q9NQV7 (PRDM9) | Y | H | 335 | - | Benign |
63776 | Q9NQV7 (PRDM9) | T | S | 681 | - | Benign |
63777 | Q9NQV7 (PRDM9) | K | E | 788 | - | Benign |
63778 | Q9NQV7 (PRDM9) | N | H | 790 | - | Benign |
63779 | Q9NQV7 (PRDM9) | S | R | 814 | - | Benign |
63780 | Q9NQV8 (PRDM8) | F | L | 261 | rs863225286 | Disease: Epilepsy, progressive myoclonic 10 (EPM10) [MIM:616640] |
63781 | Q9NQW1 (SEC31B) | V | A | 89 | rs3763695 | Benign |
63782 | Q9NQW1 (SEC31B) | Y | C | 100 | rs7074707 | Benign |
63783 | Q9NQW1 (SEC31B) | L | F | 129 | rs3793706 | Benign |
63784 | Q9NQW1 (SEC31B) | S | A | 332 | rs2295774 | Benign |
63785 | Q9NQW1 (SEC31B) | P | S | 372 | rs2295772 | Benign |
63786 | Q9NQW1 (SEC31B) | R | Q | 433 | rs2295771 | Benign |
63787 | Q9NQW1 (SEC31B) | R | T | 478 | rs11819496 | Benign |
63788 | Q9NQW1 (SEC31B) | S | R | 527 | rs17113157 | Benign |
63789 | Q9NQW1 (SEC31B) | A | S | 1169 | rs2298075 | Benign |
63790 | Q9NQW5 (PRDM7) | D | E | 90 | rs12925933 | Benign |
63791 | Q9NQW5 (PRDM7) | R | K | 131 | rs2078478 | Benign |
63792 | Q9NQW5 (PRDM7) | N | K | 435 | rs7206111 | Benign |
63793 | Q9NQW6 (ANLN) | S | W | 65 | rs3735400 | Benign |
63794 | Q9NQW6 (ANLN) | R | K | 185 | rs197367 | Benign |
63795 | Q9NQW6 (ANLN) | R | C | 431 | rs587777741 | Disease: Focal segmental glomeruloscl erosis 8 (FSGS8) [MIM:616032] |
63796 | Q9NQW6 (ANLN) | G | C | 618 | - | Disease: Focal segmental glomeruloscl erosis 8 (FSGS8) [MIM:616032] |
63797 | Q9NQW8 (CNGB3) | R | H | 25 | rs141098074 | Benign |
63798 | Q9NQW8 (CNGB3) | N | S | 27 | rs35807406 | Benign |
63799 | Q9NQW8 (CNGB3) | K | E | 148 | rs369138501 | Disease: Achromatopsi a 3 (ACHM3) [MIM:262300] |
63800 | Q9NQW8 (CNGB3) | S | F | 156 | rs139207764 | Disease: Achromatopsi a 3 (ACHM3) [MIM:262300] |
63801 | Q9NQW8 (CNGB3) | C | W | 234 | rs6471482 | Benign |
63802 | Q9NQW8 (CNGB3) | T | P | 298 | rs4961206 | Benign |
63803 | Q9NQW8 (CNGB3) | I | V | 307 | rs13265557 | Benign |
63804 | Q9NQW8 (CNGB3) | P | L | 309 | rs1554612145 | Disease: Achromatopsi a 3 (ACHM3) [MIM:262300] |
63805 | Q9NQW8 (CNGB3) | S | F | 435 | rs121918344 | Disease: Achromatopsi a 3 (ACHM3) [MIM:262300] |
63806 | Q9NQW8 (CNGB3) | Y | D | 469 | rs35365413 | Disease: Stargardt disease 1 (STGD1) [MIM:248200] |
63807 | Q9NQW8 (CNGB3) | F | N | 525 | - | Disease: Achromatopsi a 3 (ACHM3) [MIM:262300] |
63808 | Q9NQW8 (CNGB3) | G | C | 558 | rs749413012 | Disease: Achromatopsi a 3 (ACHM3) [MIM:262300] |
63809 | Q9NQW8 (CNGB3) | L | F | 595 | rs1554604849 | Disease: Achromatopsi a 3 (ACHM3) [MIM:262300] |
63810 | Q9NQW8 (CNGB3) | P | S | 750 | rs3735971 | Benign |
63811 | Q9NQW8 (CNGB3) | E | G | 755 | rs3735972 | Benign |
63812 | Q9NQX0 (PRDM6) | Q | R | 462 | rs879253872 | Disease: Patent ductus arteriosus 3 (PDA3) [MIM:617039] |
63813 | Q9NQX0 (PRDM6) | R | Q | 549 | rs879255278 | Disease: Patent ductus arteriosus 3 (PDA3) [MIM:617039] |
63814 | Q9NQX1 (PRDM5) | Y | C | 107 | rs387907111 | Disease: Brittle cornea syndrome 2 (BCS2) [MIM:614170] |
63815 | Q9NQX3 (GPHN) | G | D | 375 | - | Disease: Molybdenum cofactor deficiency, complementat ion group C (MOCODC) [MIM:615501] |
63816 | Q9NQX3 (GPHN) | D | A | 580 | rs397518420 | Disease: Molybdenum cofactor deficiency, complementat ion group C (MOCODC) [MIM:615501] |
63817 | Q9NQX4 (MYO5C) | R | C | 172 | rs55686434 | Benign |
63818 | Q9NQX4 (MYO5C) | L | P | 522 | - | Benign |
63819 | Q9NQX4 (MYO5C) | L | S | 634 | - | Benign |
63820 | Q9NQX4 (MYO5C) | E | K | 1075 | rs3825801 | Benign |
63821 | Q9NQX4 (MYO5C) | P | L | 1396 | rs17650440 | Benign |
63822 | Q9NQX7 (ITM2C) | G | S | 53 | rs2289235 | Benign |
63823 | Q9NQZ2 (UTP3) | T | M | 23 | rs16845385 | Benign |
63824 | Q9NQZ5 (STARD7) | R | P | 140 | rs2276650 | Benign |
63825 | Q9NQZ6 (ZC4H2) | R | K | 18 | rs1057520299 | Disease: Wieacker- Wolf syndrome (WRWF) [MIM:314580] |
63826 | Q9NQZ6 (ZC4H2) | V | L | 63 | rs398122938 | Disease: Wieacker- Wolf syndrome (WRWF) [MIM:314580] |
63827 | Q9NQZ6 (ZC4H2) | L | H | 66 | rs1057520297 | Disease: Wieacker- Wolf syndrome (WRWF) [MIM:314580] |
63828 | Q9NQZ6 (ZC4H2) | R | Q | 198 | rs879255235 | Disease: Wieacker- Wolf syndrome (WRWF) [MIM:314580] |
63829 | Q9NQZ6 (ZC4H2) | P | S | 201 | rs398122939 | Disease: Wieacker- Wolf syndrome (WRWF) [MIM:314580] |
63830 | Q9NQZ6 (ZC4H2) | R | W | 213 | rs879255236 | Disease: Wieacker- Wolf syndrome (WRWF) [MIM:314580] |
63831 | Q9NQZ7 (ENTPD7) | V | A | 276 | rs11190245 | Benign |
63832 | Q9NQZ8 (ZNF71) | R | G | 27 | rs10405299 | Benign |
63833 | Q9NQZ8 (ZNF71) | V | I | 105 | rs2072501 | Benign |
63834 | Q9NQZ8 (ZNF71) | P | L | 121 | rs35392779 | Benign |
63835 | Q9NR00 (TCIM) | V | I | 10 | rs6474226 | Benign |
63836 | Q9NR12 (PDLIM7) | A | T | 326 | rs2306764 | Benign |
63837 | Q9NR16 (CD163L1) | L | M | 523 | rs6488268 | Benign |
63838 | Q9NR16 (CD163L1) | D | N | 578 | rs4072797 | Benign |
63839 | Q9NR16 (CD163L1) | G | A | 582 | rs4072796 | Benign |
63840 | Q9NR16 (CD163L1) | G | S | 1055 | rs36206713 | Benign |
63841 | Q9NR16 (CD163L1) | M | T | 1108 | rs35480970 | Benign |
63842 | Q9NR20 (DYRK4) | A | T | 61 | rs12306130 | Benign |
63843 | Q9NR20 (DYRK4) | A | S | 70 | - | Benign |
63844 | Q9NR20 (DYRK4) | V | I | 95 | rs746486416 | Benign |
63845 | Q9NR20 (DYRK4) | N | S | 189 | rs3741927 | Benign |
63846 | Q9NR20 (DYRK4) | D | V | 454 | rs1801016 | Benign |
63847 | Q9NR23 (GDF3) | R | Q | 195 | rs146973734 | Disease: Microphthalm ia, isolated, 7 (MCOP7) [MIM:613704] |
63848 | Q9NR23 (GDF3) | G | R | 213 | rs12819884 | Benign |
63849 | Q9NR23 (GDF3) | R | C | 266 | rs140926412 | Disease: Microphthalm ia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703] |
63850 | Q9NR23 (GDF3) | R | W | 274 | rs387906946 | Disease: Microphthalm ia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703] |
63851 | Q9NR23 (GDF3) | L | P | 305 | rs387906945 | Disease: Microphthalm ia, isolated, 7 (MCOP7) [MIM:613704] |
63852 | Q9NR23 (GDF3) | V | L | 328 | rs2302516 | Benign |
63853 | Q9NR28 (DIABLO) | S | L | 126 | rs387906893 | Disease: Deafness, autosomal dominant, 64 (DFNA64) [MIM:614152] |
63854 | Q9NR30 (DDX21) | T | I | 27 | rs17556220 | Benign |
63855 | Q9NR33 (POLE4) | G | V | 17 | rs12366 | Benign |
63856 | Q9NR45 (NANS) | H | N | 29 | rs1277263564 | Disease: Spondyloepim etaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] |
63857 | Q9NR45 (NANS) | E | D | 68 | rs1058446 | Benign |
63858 | Q9NR45 (NANS) | G | V | 133 | rs878852980 | Disease: Spondyloepim etaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] |
63859 | Q9NR45 (NANS) | R | H | 151 | rs140402727 | Disease: Spondyloepim etaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] |
63860 | Q9NR45 (NANS) | Y | H | 188 | rs878852981 | Disease: Spondyloepim etaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] |
63861 | Q9NR45 (NANS) | P | L | 189 | rs1024025721 | Disease: Spondyloepim etaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] |
63862 | Q9NR45 (NANS) | R | C | 237 | rs878852982 | Disease: Spondyloepim etaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442] |
63863 | Q9NR46 (SH3GLB2) | A | V | 305 | rs17455482 | Benign |
63864 | Q9NR46 (SH3GLB2) | P | L | 319 | rs17455475 | Benign |
63865 | Q9NR48 (ASH1L) | S | G | 277 | rs186255422 | Benign |
63866 | Q9NR48 (ASH1L) | S | P | 1416 | rs13373934 | Benign |
63867 | Q9NR48 (ASH1L) | T | A | 1771 | rs4971053 | Benign |
63868 | Q9NR48 (ASH1L) | A | P | 2791 | rs1553241570 | Disease: Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] |
63869 | Q9NR50 (EIF2B3) | L | Q | 27 | rs397514647 | Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896] |
63870 | Q9NR50 (EIF2B3) | G | E | 47 | - | Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896] |
63871 | Q9NR50 (EIF2B3) | A | V | 87 | rs113994022 | Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896] |
63872 | Q9NR50 (EIF2B3) | R | Q | 225 | rs113994024 | Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896] |
63873 | Q9NR50 (EIF2B3) | D | E | 288 | rs3738247 | Benign |
63874 | Q9NR50 (EIF2B3) | I | T | 346 | rs119474039 | Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896] |
63875 | Q9NR55 (BATF3) | V | I | 11 | rs2202683 | Benign |
63876 | Q9NR61 (DLL4) | A | P | 121 | rs796065350 | Disease: Adams-Oliver syndrome 6 (AOS6) [MIM:616589] |
63877 | Q9NR61 (DLL4) | R | C | 186 | rs796065348 | Disease: Adams-Oliver syndrome 6 (AOS6) [MIM:616589] |
63878 | Q9NR61 (DLL4) | F | L | 195 | rs796065351 | Disease: Adams-Oliver syndrome 6 (AOS6) [MIM:616589] |
63879 | Q9NR61 (DLL4) | P | T | 267 | rs796065349 | Disease: Adams-Oliver syndrome 6 (AOS6) [MIM:616589] |
63880 | Q9NR61 (DLL4) | C | R | 390 | rs796065347 | Disease: Adams-Oliver syndrome 6 (AOS6) [MIM:616589] |
63881 | Q9NR61 (DLL4) | C | Y | 390 | rs796065346 | Disease: Adams-Oliver syndrome 6 (AOS6) [MIM:616589] |
63882 | Q9NR61 (DLL4) | C | W | 455 | rs796065345 | Disease: Adams-Oliver syndrome 6 (AOS6) [MIM:616589] |
63883 | Q9NR63 (CYP26B1) | H | R | 64 | - | Benign |
63884 | Q9NR63 (CYP26B1) | S | P | 146 | rs281875232 | Disease: Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416] |
63885 | Q9NR63 (CYP26B1) | V | M | 181 | rs142999899 | Benign |
63886 | Q9NR63 (CYP26B1) | A | V | 185 | rs765423228 | Benign |
63887 | Q9NR63 (CYP26B1) | R | H | 191 | rs76025186 | Benign |
63888 | Q9NR63 (CYP26B1) | D | N | 227 | rs143738797 | Benign |
63889 | Q9NR63 (CYP26B1) | L | S | 264 | rs2241057 | Benign |
63890 | Q9NR63 (CYP26B1) | R | L | 363 | rs281875231 | Disease: Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416] |
63891 | Q9NR63 (CYP26B1) | E | K | 380 | rs2286965 | Benign |
63892 | Q9NR63 (CYP26B1) | A | G | 420 | rs7568553 | Benign |
63893 | Q9NR63 (CYP26B1) | R | C | 473 | rs61751056 | Benign |
63894 | Q9NR63 (CYP26B1) | V | I | 479 | rs148075682 | Benign |
63895 | Q9NR71 (ASAH2) | T | A | 51 | rs7067625 | Benign |
63896 | Q9NR71 (ASAH2) | A | S | 346 | rs993869 | Benign |
63897 | Q9NR80 (ARHGEF4) | D | H | 33 | rs10188052 | Benign |
63898 | Q9NR81 (ARHGEF3) | K | R | 13 | rs3732507 | Benign |
63899 | Q9NR81 (ARHGEF3) | L | V | 335 | rs3772219 | Benign |
63900 | Q9NR82 (KCNQ5) | V | G | 145 | rs1135401955 | Disease: Mental retardation, autosomal dominant 46 (MRD46) [MIM:617601] |
63901 | Q9NR82 (KCNQ5) | L | I | 341 | rs1135401956 | Disease: Mental retardation, autosomal dominant 46 (MRD46) [MIM:617601] |
63902 | Q9NR82 (KCNQ5) | P | R | 369 | rs1135401958 | Disease: Mental retardation, autosomal dominant 46 (MRD46) [MIM:617601] |
63903 | Q9NR82 (KCNQ5) | S | I | 429 | rs1135401957 | Disease: Mental retardation, autosomal dominant 46 (MRD46) [MIM:617601] |
63904 | Q9NR83 (SLC2A4RG) | E | D | 233 | rs8957 | Benign |
63905 | Q9NR96 (TLR9) | R | C | 5 | rs5743842 | Benign |
63906 | Q9NR96 (TLR9) | H | Q | 79 | rs5743843 | Benign |
63907 | Q9NR96 (TLR9) | R | Q | 863 | rs5743845 | Benign |
63908 | Q9NR96 (TLR9) | A | T | 882 | rs5743846 | Benign |
63909 | Q9NR97 (TLR8) | M | V | 10 | rs5744077 | Benign |
63910 | Q9NR97 (TLR8) | R | Q | 715 | rs5744082 | Benign |
63911 | Q9NR99 (MXRA5) | V | L | 764 | rs5983120 | Benign |
63912 | Q9NR99 (MXRA5) | I | V | 824 | rs5983119 | Benign |
63913 | Q9NR99 (MXRA5) | S | N | 862 | - | Disease: Lung cancer (LNCR) [MIM:211980] |
63914 | Q9NR99 (MXRA5) | A | V | 1128 | rs1635246 | Benign |
63915 | Q9NR99 (MXRA5) | R | H | 1163 | rs139106444 | Benign |
63916 | Q9NR99 (MXRA5) | G | D | 1394 | rs1726199 | Benign |
63917 | Q9NR99 (MXRA5) | T | A | 1484 | rs12396910 | Benign |
63918 | Q9NR99 (MXRA5) | P | S | 1665 | rs1974522 | Benign |
63919 | Q9NR99 (MXRA5) | G | S | 2000 | rs1635242 | Benign |
63920 | Q9NR99 (MXRA5) | E | D | 2426 | rs148675322 | Benign |
63921 | Q9NR99 (MXRA5) | L | V | 2531 | rs1726208 | Benign |
63922 | Q9NR99 (MXRA5) | G | W | 2663 | rs143264543 | Benign |
63923 | Q9NRA0 (SPHK2) | R | Q | 652 | rs11881285 | Benign |
63924 | Q9NRA2 (SLC17A5) | R | C | 39 | rs80338794 | Disease: Salla disease (SD) [MIM:604369] |
63925 | Q9NRA2 (SLC17A5) | K | E | 136 | rs80338795 | Disease: Salla disease (SD) [MIM:604369] |
63926 | Q9NRA2 (SLC17A5) | H | R | 183 | rs119491109 | Disease: Infantile sialic acid storage disorder (ISSD) [MIM:269920] |
63927 | Q9NRA2 (SLC17A5) | V | I | 296 | rs16883930 | Benign |
63928 | Q9NRA2 (SLC17A5) | P | R | 334 | rs119491110 | Disease: Infantile sialic acid storage disorder (ISSD) [MIM:269920] |
63929 | Q9NRA2 (SLC17A5) | G | V | 371 | - | Disease: Infantile sialic acid storage disorder (ISSD) [MIM:269920] |
63930 | Q9NRB3 (CHST12) | P | H | 52 | rs3735099 | Benign |
63931 | Q9NRB3 (CHST12) | T | S | 61 | rs3735100 | Benign |
63932 | Q9NRB3 (CHST12) | P | L | 94 | rs12536223 | Benign |
63933 | Q9NRB3 (CHST12) | R | S | 109 | rs17132395 | Benign |
63934 | Q9NRB3 (CHST12) | A | P | 145 | rs17132399 | Benign |
63935 | Q9NRC1 (ST7) | A | T | 186 | rs201219065 | Benign |
63936 | Q9NRC1 (ST7) | I | V | 361 | rs1362000016 | Benign |
63937 | Q9NRC6 (SPTBN5) | R | H | 1345 | rs2290559 | Benign |
63938 | Q9NRC6 (SPTBN5) | R | T | 1367 | rs2290558 | Benign |
63939 | Q9NRC6 (SPTBN5) | Q | R | 2862 | rs1456235 | Benign |
63940 | Q9NRC6 (SPTBN5) | A | G | 3275 | rs1197660 | Benign |
63941 | Q9NRC9 (OTOR) | L | P | 31 | rs6135876 | Benign |
63942 | Q9NRD0 (FBXO8) | I | M | 51 | rs17857220 | Benign |
63943 | Q9NRD0 (FBXO8) | Y | H | 156 | rs17854000 | Benign |
63944 | Q9NRD1 (FBXO6) | R | Q | 60 | rs3125818 | Benign |
63945 | Q9NRD1 (FBXO6) | P | T | 201 | rs2294639 | Benign |
63946 | Q9NRD8 (DUOX2) | Q | H | 36 | - | Disease: Thyroid dyshormonoge nesis 6 (TDH6) [MIM:607200] |
63947 | Q9NRD8 (DUOX2) | P | L | 138 | rs2001616 | Benign |
63948 | Q9NRD8 (DUOX2) | R | W | 376 | rs119472029 | Disease: Thyroid dyshormonoge nesis 6 (TDH6) [MIM:607200] |
63949 | Q9NRD8 (DUOX2) | H | R | 678 | rs57659670 | Benign |
63950 | Q9NRD8 (DUOX2) | S | L | 1067 | rs269868 | Benign |
63951 | Q9NRD8 (DUOX2) | G | S | 1518 | rs368512412 | Disease: Thyroid dyshormonoge nesis 6 (TDH6) [MIM:607200] |
63952 | Q9NRD9 (DUOX1) | I | T | 962 | rs16939743 | Benign |
63953 | Q9NRD9 (DUOX1) | C | R | 1026 | rs16939752 | Benign |
63954 | Q9NRD9 (DUOX1) | L | F | 1178 | rs2458236 | Benign |
63955 | Q9NRE1 (MMP26) | K | E | 43 | rs2499953 | Benign |
63956 | Q9NRE1 (MMP26) | I | M | 260 | rs16908114 | Benign |
63957 | Q9NRE2 (TSHZ2) | R | S | 113 | rs739869 | Benign |
63958 | Q9NRE2 (TSHZ2) | A | T | 681 | rs6097319 | Benign |
63959 | Q9NRF2 (SH2B1) | T | A | 484 | rs7498665 | Benign |
63960 | Q9NRF2 (SH2B1) | V | A | 541 | rs17850682 | Benign |
63961 | Q9NRF9 (POLE3) | T | A | 83 | rs36023979 | Benign |
63962 | Q9NRF9 (POLE3) | D | A | 126 | rs34852828 | Benign |
63963 | Q9NRF9 (POLE3) | E | D | 135 | rs35933626 | Benign |
63964 | Q9NRG0 (CHRAC1) | C | Y | 55 | rs2231522 | Benign |
63965 | Q9NRG0 (CHRAC1) | H | R | 126 | rs2231524 | Benign |
63966 | Q9NRG4 (SMYD2) | G | E | 165 | rs1134647 | Benign |
63967 | Q9NRG4 (SMYD2) | I | M | 430 | rs11120301 | Benign |
63968 | Q9NRG7 (SDR39U1) | I | L | 79 | rs11625819 | Benign |
63969 | Q9NRG7 (SDR39U1) | G | V | 181 | rs11538256 | Benign |
63970 | Q9NRG7 (SDR39U1) | L | F | 232 | rs3211056 | Benign |
63971 | Q9NRG7 (SDR39U1) | Q | R | 270 | rs1043831 | Benign |
63972 | Q9NRG9 (AAAS) | Q | K | 15 | rs121918549 | Disease: Achalasia-ad disonianism- alacrima syndrome (AAAS) [MIM:231550] |
63973 | Q9NRG9 (AAAS) | K | M | 108 | rs13330 | Benign |
63974 | Q9NRG9 (AAAS) | H | R | 160 | rs1297831120 | Disease: Achalasia-ad disonianism- alacrima syndrome (AAAS) [MIM:231550] |
63975 | Q9NRG9 (AAAS) | S | P | 263 | rs121918550 | Disease: Achalasia-ad disonianism- alacrima syndrome (AAAS) [MIM:231550] |
63976 | Q9NRH1 (YAE1) | K | E | 68 | rs6947660 | Benign |
63977 | Q9NRH2 (SNRK) | L | S | 260 | rs35624204 | Benign |
63978 | Q9NRH2 (SNRK) | P | S | 391 | rs56104180 | Benign |
63979 | Q9NRH3 (TUBG2) | M | V | 413 | rs1046097 | Benign |
63980 | Q9NRI5 (DISC1) | G | V | 5 | rs3738400 | Benign |
63981 | Q9NRI5 (DISC1) | A | V | 116 | rs56020408 | Benign |
63982 | Q9NRI5 (DISC1) | R | Q | 264 | rs3738401 | Benign |
63983 | Q9NRI5 (DISC1) | T | N | 328 | rs55795950 | Benign |
63984 | Q9NRI5 (DISC1) | L | F | 330 | rs34622148 | Benign |
63985 | Q9NRI5 (DISC1) | G | R | 531 | rs56229136 | Benign |
63986 | Q9NRI5 (DISC1) | L | F | 607 | rs6675281 | Benign |
63987 | Q9NRI5 (DISC1) | S | C | 704 | rs821616 | Benign |
63988 | Q9NRJ1 (C8orf17) | T | M | 19 | rs2233233 | Benign |
63989 | Q9NRJ1 (C8orf17) | K | R | 49 | rs2233235 | Benign |
63990 | Q9NRJ1 (C8orf17) | T | I | 57 | rs2233236 | Benign |
63991 | Q9NRJ4 (TULP4) | R | S | 199 | rs705956 | Benign |
63992 | Q9NRJ4 (TULP4) | G | S | 214 | rs35262826 | Benign |
63993 | Q9NRJ4 (TULP4) | S | N | 522 | rs12206717 | Benign |
63994 | Q9NRJ4 (TULP4) | D | N | 979 | rs34622886 | Benign |
63995 | Q9NRJ4 (TULP4) | V | I | 1084 | rs34559793 | Benign |
63996 | Q9NRJ4 (TULP4) | P | T | 1281 | rs3749852 | Benign |
63997 | Q9NRJ7 (PCDHB16) | D | E | 91 | rs17096969 | Benign |
63998 | Q9NRJ7 (PCDHB16) | V | L | 347 | rs28664170 | Benign |
63999 | Q9NRJ7 (PCDHB16) | A | T | 508 | rs17844648 | Benign |
64000 | Q9NRJ7 (PCDHB16) | R | Q | 525 | rs17844651 | Benign |
64001 | Q9NRJ7 (PCDHB16) | S | G | 532 | rs2697532 | Benign |
64002 | Q9NRK6 (ABCB10) | A | S | 150 | rs4148756 | Benign |
64003 | Q9NRK6 (ABCB10) | R | G | 242 | rs17584642 | Benign |
64004 | Q9NRK6 (ABCB10) | D | N | 545 | rs35698797 | Benign |
64005 | Q9NRL2 (BAZ1A) | D | E | 344 | rs1133285 | Benign |
64006 | Q9NRL2 (BAZ1A) | N | K | 1366 | rs1044140 | Benign |
64007 | Q9NRL3 (STRN4) | V | I | 568 | rs10409124 | Benign |
64008 | Q9NRM0 (SLC2A9) | S | N | 22 | - | Benign |
64009 | Q9NRM0 (SLC2A9) | G | R | 25 | rs2276961 | Benign |
64010 | Q9NRM0 (SLC2A9) | L | R | 75 | rs863225072 | Disease: Hypouricemia renal 2 (RHUC2) [MIM:612076] |
64011 | Q9NRM0 (SLC2A9) | T | M | 125 | rs181509591 | Disease: Hypouricemia renal 2 (RHUC2) [MIM:612076] |
64012 | Q9NRM0 (SLC2A9) | V | M | 169 | rs144196049 | Benign |
64013 | Q9NRM0 (SLC2A9) | R | C | 171 | rs776127501 | Disease: Hypouricemia renal 2 (RHUC2) [MIM:612076] |
64014 | Q9NRM0 (SLC2A9) | E | D | 191 | rs376990050 | Benign |
64015 | Q9NRM0 (SLC2A9) | R | C | 198 | rs121908322 | Disease: Hypouricemia renal 2 (RHUC2) [MIM:612076] |
64016 | Q9NRM0 (SLC2A9) | G | R | 216 | rs561633150 | Benign |
64017 | Q9NRM0 (SLC2A9) | T | M | 275 | rs112404957 | Benign |
64018 | Q9NRM0 (SLC2A9) | D | H | 281 | rs73225891 | Benign |
64019 | Q9NRM0 (SLC2A9) | V | I | 282 | rs16890979 | Benign |
64020 | Q9NRM0 (SLC2A9) | R | H | 294 | rs3733591 | Benign |
64021 | Q9NRM0 (SLC2A9) | R | H | 300 | rs145688560 | Benign |
64022 | Q9NRM0 (SLC2A9) | P | L | 350 | rs2280205 | Benign |
64023 | Q9NRM0 (SLC2A9) | R | W | 380 | rs121908321 | Disease: Hypouricemia renal 2 (RHUC2) [MIM:612076] |
64024 | Q9NRM1 (ENAM) | S | L | 216 | rs867263935 | Disease: Amelogenesis imperfecta 1C (AI1C) [MIM:204650] |
64025 | Q9NRM1 (ENAM) | F | L | 576 | rs2609428 | Benign |
64026 | Q9NRM1 (ENAM) | I | T | 648 | rs7671281 | Benign |
64027 | Q9NRM1 (ENAM) | P | L | 724 | rs3796703 | Benign |
64028 | Q9NRM1 (ENAM) | R | Q | 763 | rs3796704 | Benign |
64029 | Q9NRM1 (ENAM) | D | G | 767 | rs3796705 | Benign |
64030 | Q9NRM2 (ZNF277) | V | I | 174 | rs34571830 | Benign |
64031 | Q9NRM2 (ZNF277) | V | M | 364 | rs11539696 | Benign |
64032 | Q9NRM6 (IL17RB) | G | R | 177 | rs2232337 | Benign |
64033 | Q9NRM6 (IL17RB) | A | V | 209 | rs2232340 | Benign |
64034 | Q9NRM6 (IL17RB) | R | Q | 232 | rs2232343 | Benign |
64035 | Q9NRM6 (IL17RB) | F | L | 278 | rs2232346 | Benign |
64036 | Q9NRM6 (IL17RB) | I | T | 451 | rs2232350 | Benign |
64037 | Q9NRM6 (IL17RB) | N | S | 458 | rs2232351 | Benign |
64038 | Q9NRM6 (IL17RB) | C | R | 499 | rs28385751 | Benign |
64039 | Q9NRM7 (LATS2) | S | L | 91 | rs55842804 | Benign |
64040 | Q9NRM7 (LATS2) | A | V | 324 | rs558614 | Benign |
64041 | Q9NRM7 (LATS2) | G | S | 363 | rs2770928 | Benign |
64042 | Q9NRM7 (LATS2) | I | V | 799 | rs35368391 | Benign |
64043 | Q9NRM7 (LATS2) | A | G | 1014 | rs45523141 | Benign |
64044 | Q9NRM7 (LATS2) | L | P | 1025 | rs56116059 | Benign |
64045 | Q9NRN9 (METTL5) | V | G | 202 | rs1051387 | Benign |
64046 | Q9NRP2 (CMC2) | T | S | 11 | rs2303217 | Benign |
64047 | Q9NRP7 (STK36) | I | M | 90 | rs55706732 | Benign |
64048 | Q9NRP7 (STK36) | R | W | 240 | rs35038757 | Benign |
64049 | Q9NRP7 (STK36) | K | R | 295 | rs1863703 | Benign |
64050 | Q9NRP7 (STK36) | D | N | 329 | rs34027859 | Benign |
64051 | Q9NRP7 (STK36) | L | V | 462 | rs45586733 | Benign |
64052 | Q9NRP7 (STK36) | K | N | 463 | rs17856747 | Benign |
64053 | Q9NRP7 (STK36) | F | S | 476 | rs34128793 | Benign |
64054 | Q9NRP7 (STK36) | R | W | 477 | rs16859180 | Benign |
64055 | Q9NRP7 (STK36) | R | Q | 583 | rs1344642 | Benign |
64056 | Q9NRP7 (STK36) | Q | P | 638 | rs6709303 | Benign |
64057 | Q9NRP7 (STK36) | L | P | 672 | rs35448374 | Benign |
64058 | Q9NRP7 (STK36) | S | T | 767 | rs17856748 | Benign |
64059 | Q9NRP7 (STK36) | T | A | 816 | rs34271431 | Benign |
64060 | Q9NRP7 (STK36) | R | Q | 839 | rs13023540 | Benign |
64061 | Q9NRP7 (STK36) | L | V | 840 | rs36099639 | Benign |
64062 | Q9NRP7 (STK36) | G | D | 1003 | rs1863704 | Benign |
64063 | Q9NRP7 (STK36) | V | I | 1004 | rs55633575 | Benign |
64064 | Q9NRP7 (STK36) | Y | C | 1111 | rs56278660 | Benign |
64065 | Q9NRP7 (STK36) | R | Q | 1112 | rs12993599 | Benign |
64066 | Q9NRP7 (STK36) | H | P | 1313 | - | Benign |
64067 | Q9NRQ2 (PLSCR4) | N | S | 34 | rs3762685 | Benign |
64068 | Q9NRQ2 (PLSCR4) | I | V | 155 | rs1061409 | Benign |
64069 | Q9NRR1 (CYTL1) | S | L | 51 | rs35755546 | Benign |
64070 | Q9NRR1 (CYTL1) | R | C | 136 | rs11722554 | Benign |
64071 | Q9NRR2 (TPSG1) | M | V | 60 | rs760357 | Benign |
64072 | Q9NRR2 (TPSG1) | I | M | 126 | - | Benign |
64073 | Q9NRR2 (TPSG1) | S | T | 132 | - | Benign |
64074 | Q9NRR2 (TPSG1) | W | S | 160 | rs4984638 | Benign |
64075 | Q9NRR2 (TPSG1) | L | I | 204 | - | Benign |
64076 | Q9NRR2 (TPSG1) | T | I | 239 | rs11248860 | Benign |
64077 | Q9NRR2 (TPSG1) | L | F | 288 | rs1004041 | Benign |
64078 | Q9NRR4 (DROSHA) | P | T | 67 | rs35342496 | Benign |
64079 | Q9NRR4 (DROSHA) | S | L | 321 | rs55656741 | Benign |
64080 | Q9NRR5 (UBQLN4) | D | A | 90 | rs1465567777 | Disease: Amyotrophic lateral sclerosis (ALS) [MIM:105400] |
64081 | Q9NRR5 (UBQLN4) | I | M | 495 | rs2297792 | Benign |
64082 | Q9NRR6 (INPP5E) | I | M | 201 | rs36064831 | Benign |
64083 | Q9NRR6 (INPP5E) | G | R | 286 | rs757936530 | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64084 | Q9NRR6 (INPP5E) | V | M | 303 | rs746212325 | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64085 | Q9NRR6 (INPP5E) | R | S | 345 | - | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64086 | Q9NRR6 (INPP5E) | R | C | 378 | rs121918130 | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64087 | Q9NRR6 (INPP5E) | T | N | 426 | - | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64088 | Q9NRR6 (INPP5E) | R | Q | 435 | rs121918129 | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64089 | Q9NRR6 (INPP5E) | R | W | 512 | rs374152018 | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64090 | Q9NRR6 (INPP5E) | R | W | 515 | rs13297509 | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64091 | Q9NRR6 (INPP5E) | G | A | 522 | rs771866500 | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64092 | Q9NRR6 (INPP5E) | Y | D | 534 | - | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64093 | Q9NRR6 (INPP5E) | R | H | 563 | rs121918128 | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64094 | Q9NRR6 (INPP5E) | K | E | 580 | - | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64095 | Q9NRR6 (INPP5E) | R | C | 585 | rs763992407 | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64096 | Q9NRR6 (INPP5E) | R | Q | 621 | - | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64097 | Q9NRR6 (INPP5E) | C | R | 641 | - | Disease: Joubert syndrome 1 (JBTS1) [MIM:213300] |
64098 | Q9NRS4 (TMPRSS4) | R | Q | 177 | rs1894176 | Benign |
64099 | Q9NRS4 (TMPRSS4) | K | E | 198 | rs12270001 | Benign |
64100 | Q9NRS4 (TMPRSS4) | V | G | 208 | rs1941635 | Benign |
64101 | Q9NRS6 (SNX15) | R | C | 334 | rs495820 | Benign |
64102 | Q9NRU3 (CNNM1) | R | Q | 819 | rs2298316 | Benign |
64103 | Q9NRV9 (HEBP1) | E | D | 183 | rs1941 | Benign |
64104 | Q9NRW4 (DUSP22) | R | H | 119 | rs7768224 | Benign |
64105 | Q9NRW7 (VPS45) | T | N | 224 | rs879255237 | Disease: Neutropenia, severe congenital 5, autosomal recessive (SCN5) [MIM:615285] |
64106 | Q9NRW7 (VPS45) | E | K | 238 | rs782269909 | Disease: Neutropenia, severe congenital 5, autosomal recessive (SCN5) [MIM:615285] |
64107 | Q9NRX1 (PNO1) | R | G | 11 | rs2044693 | Benign |
64108 | Q9NRX1 (PNO1) | G | A | 71 | rs7590838 | Benign |
64109 | Q9NRX5 (SERINC1) | L | V | 199 | rs13210569 | Benign |
64110 | Q9NRX5 (SERINC1) | F | V | 216 | rs13210446 | Benign |
64111 | Q9NRX5 (SERINC1) | S | G | 225 | rs17260829 | Benign |
64112 | Q9NRY6 (PLSCR3) | V | I | 293 | rs3744549 | Benign |
64113 | Q9NS18 (GLRX2) | K | E | 95 | rs34237236 | Benign |
64114 | Q9NS23 (RASSF1) | K | Q | 21 | rs4688725 | Benign |
64115 | Q9NS23 (RASSF1) | R | C | 53 | rs201618726 | Benign |
64116 | Q9NS23 (RASSF1) | D | E | 133 | rs76335415 | Benign |
64117 | Q9NS23 (RASSF1) | S | F | 135 | rs934370004 | Benign |
64118 | Q9NS23 (RASSF1) | A | S | 137 | rs2073498 | Benign |
64119 | Q9NS23 (RASSF1) | H | R | 319 | rs12488879 | Benign |
64120 | Q9NS23 (RASSF1) | Y | C | 329 | rs782655006 | Benign |
64121 | Q9NS25 (SPANXB1) | L | V | 74 | rs878856926 | Benign |
64122 | Q9NS39 (ADARB2) | A | T | 44 | rs3793733 | Benign |
64123 | Q9NS39 (ADARB2) | A | T | 626 | rs2271275 | Benign |
64124 | Q9NS40 (KCNH7) | G | A | 958 | rs6757850 | Benign |
64125 | Q9NS56 (TOPORS) | A | T | 154 | rs17855104 | Benign |
64126 | Q9NS56 (TOPORS) | E | K | 517 | rs17855103 | Benign |
64127 | Q9NS56 (TOPORS) | N | D | 749 | rs17857515 | Benign |
64128 | Q9NS56 (TOPORS) | P | R | 812 | rs36034138 | Benign |
64129 | Q9NS62 (THSD1) | V | G | 125 | rs13313279 | Benign |
64130 | Q9NS62 (THSD1) | R | G | 224 | rs9536062 | Benign |
64131 | Q9NS62 (THSD1) | D | H | 491 | rs56013270 | Benign |
64132 | Q9NS62 (THSD1) | K | R | 768 | rs9536041 | Benign |
64133 | Q9NS68 (TNFRSF19) | S | T | 31 | rs9550987 | Benign |
64134 | Q9NS68 (TNFRSF19) | A | V | 159 | rs61756242 | Benign |
64135 | Q9NS68 (TNFRSF19) | V | I | 405 | rs3751362 | Benign |
64136 | Q9NS73 (MBIP) | L | H | 7 | rs2899849 | Benign |
64137 | Q9NS73 (MBIP) | R | S | 22 | rs3168891 | Benign |
64138 | Q9NS82 (SLC7A10) | E | D | 112 | rs79717007 | Benign |
64139 | Q9NS82 (SLC7A10) | R | Q | 413 | rs34663170 | Benign |
64140 | Q9NS86 (LANCL2) | T | P | 56 | rs2272263 | Benign |
64141 | Q9NS86 (LANCL2) | I | V | 74 | rs6961412 | Benign |
64142 | Q9NS87 (KIF15) | A | V | 211 | rs34862960 | Benign |
64143 | Q9NS87 (KIF15) | T | S | 996 | rs11710339 | Benign |
64144 | Q9NS87 (KIF15) | L | M | 1206 | rs3804583 | Benign |
64145 | Q9NS87 (KIF15) | E | D | 1272 | rs17076986 | Benign |
64146 | Q9NS91 (RAD18) | E | A | 6 | rs45520133 | Benign |
64147 | Q9NS91 (RAD18) | R | Q | 302 | rs373572 | Benign |
64148 | Q9NS91 (RAD18) | I | V | 307 | rs45569933 | Benign |
64149 | Q9NS93 (TM7SF3) | P | R | 179 | rs34735713 | Benign |
64150 | Q9NS93 (TM7SF3) | P | L | 248 | rs10771314 | Benign |
64151 | Q9NS98 (SEMA3G) | S | N | 180 | rs35811072 | Benign |
64152 | Q9NS98 (SEMA3G) | I | T | 232 | rs2276833 | Benign |
64153 | Q9NS98 (SEMA3G) | V | I | 332 | rs34540591 | Benign |
64154 | Q9NSA0 (SLC22A11) | V | G | 155 | rs12785832 | Benign |
64155 | Q9NSA1 (FGF21) | G | S | 141 | rs41308776 | Benign |
64156 | Q9NSA1 (FGF21) | L | P | 174 | rs739320 | Benign |
64157 | Q9NSB2 (KRT84) | R | Q | 184 | rs1613931 | Benign |
64158 | Q9NSB2 (KRT84) | S | N | 198 | rs1732301 | Benign |
64159 | Q9NSB2 (KRT84) | I | V | 206 | rs2245203 | Benign |
64160 | Q9NSB2 (KRT84) | C | R | 446 | rs951773 | Benign |
64161 | Q9NSB2 (KRT84) | G | R | 497 | rs7297413 | Benign |
64162 | Q9NSB4 (KRT82) | E | Q | 219 | rs1791634 | Benign |
64163 | Q9NSB4 (KRT82) | E | D | 452 | rs1732263 | Benign |
64164 | Q9NSB4 (KRT82) | T | M | 458 | rs2658658 | Benign |
64165 | Q9NSB8 (HOMER2) | R | P | 196 | rs864309524 | Disease: Deafness, autosomal dominant, 68 (DFNA68) [MIM:616707] |
64166 | Q9NSB8 (HOMER2) | R | H | 219 | rs7175005 | Benign |
64167 | Q9NSB8 (HOMER2) | I | S | 239 | rs17158223 | Benign |
64168 | Q9NSC2 (SALL1) | S | G | 159 | rs13336129 | Benign |
64169 | Q9NSC2 (SALL1) | G | E | 1265 | rs149302006 | Benign |
64170 | Q9NSC5 (HOMER3) | S | R | 342 | rs1059240 | Benign |
64171 | Q9NSC7 (ST6GALNAC) | V | A | 80 | rs8077382 | Benign |
64172 | Q9NSC7 (ST6GALNAC) | I | V | 424 | rs35948039 | Benign |
64173 | Q9NSD5 (SLC6A13) | V | I | 426 | rs577294 | Benign |
64174 | Q9NSD9 (FARSB) | C | R | 76 | rs1419129874 | Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658] |
64175 | Q9NSD9 (FARSB) | F | S | 252 | rs1466642025 | Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658] |
64176 | Q9NSD9 (FARSB) | T | M | 256 | rs753710639 | Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658] |
64177 | Q9NSD9 (FARSB) | K | E | 262 | rs1553554543 | Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658] |
64178 | Q9NSD9 (FARSB) | E | K | 285 | rs767956337 | Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658] |
64179 | Q9NSD9 (FARSB) | R | Q | 305 | rs773579570 | Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658] |
64180 | Q9NSD9 (FARSB) | R | Q | 401 | rs1553553086 | Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658] |
64181 | Q9NSD9 (FARSB) | T | P | 461 | rs1396171148 | Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658] |
64182 | Q9NSD9 (FARSB) | V | I | 585 | rs7185 | Benign |
64183 | Q9NSE4 (IARS2) | A | V | 14 | rs2577154 | Benign |
64184 | Q9NSE4 (IARS2) | I | V | 522 | rs11800305 | Benign |
64185 | Q9NSG2 (C1orf112) | A | S | 481 | rs2272920 | Benign |
64186 | Q9NSI2 (FAM207A) | V | L | 212 | rs3737075 | Benign |
64187 | Q9NSI5 (IGSF5) | R | T | 49 | rs2205204 | Benign |
64188 | Q9NSI5 (IGSF5) | N | K | 156 | rs11908882 | Benign |
64189 | Q9NSI5 (IGSF5) | R | W | 170 | rs8129968 | Benign |
64190 | Q9NSI5 (IGSF5) | D | E | 350 | rs2837225 | Benign |
64191 | Q9NSI6 (BRWD1) | Q | E | 83 | rs2056844 | Benign |
64192 | Q9NSI6 (BRWD1) | S | P | 1511 | rs2183573 | Benign |
64193 | Q9NSI6 (BRWD1) | L | P | 1699 | rs1041439 | Benign |
64194 | Q9NSI6 (BRWD1) | K | R | 2156 | rs2234548 | Benign |
64195 | Q9NSI8 (SAMSN1) | G | A | 63 | rs34607574 | Benign |
64196 | Q9NSK0 (KLC4) | R | H | 72 | rs11558979 | Benign |
64197 | Q9NSK7 (C19orf12) | T | M | 11 | rs397514477 | Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298] |
64198 | Q9NSK7 (C19orf12) | S | F | 39 | rs1204865094 | Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298] |
64199 | Q9NSK7 (C19orf12) | A | P | 48 | - | Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298] |
64200 | Q9NSK7 (C19orf12) | G | R | 53 | rs200133991 | Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298] |
64201 | Q9NSK7 (C19orf12) | G | S | 58 | rs1358503478 | Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298] |
64202 | Q9NSK7 (C19orf12) | P | L | 60 | rs1424999393 | Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298] |
64203 | Q9NSK7 (C19orf12) | A | P | 63 | rs376103979 | Disease: Spastic paraplegia 43, autosomal recessive (SPG43) [MIM:615043] |
64204 | Q9NSK7 (C19orf12) | G | E | 65 | rs752450983 | Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298] |
64205 | Q9NSK7 (C19orf12) | G | V | 65 | rs752450983 | Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298] |
64206 | Q9NSK7 (C19orf12) | G | R | 69 | rs515726205 | Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298] |
64207 | Q9NSK7 (C19orf12) | P | L | 83 | rs201987973 | Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298] |
64208 | Q9NSK7 (C19orf12) | Q | P | 96 | - | Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298] |
64209 | Q9NSK7 (C19orf12) | R | S | 98 | rs1384930997 | Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298] |
64210 | Q9NSK7 (C19orf12) | L | Q | 121 | - | Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298] |
64211 | Q9NSK7 (C19orf12) | K | T | 142 | rs79915936 | Benign |
64212 | Q9NSK7 (C19orf12) | Q | R | 149 | rs73023451 | Benign |
64213 | Q9NST1 (PNPLA3) | C | G | 99 | rs2076213 | Benign |
64214 | Q9NST1 (PNPLA3) | G | C | 115 | rs2076212 | Benign |
64215 | Q9NST1 (PNPLA3) | I | M | 148 | rs738409 | Benign |
64216 | Q9NST1 (PNPLA3) | T | P | 216 | rs35726887 | Benign |
64217 | Q9NST1 (PNPLA3) | K | E | 434 | rs2294918 | Benign |
64218 | Q9NST1 (PNPLA3) | S | I | 453 | rs6006460 | Benign |
64219 | Q9NSU2 (TREX1) | D | N | 18 | rs121908117 | Disease: Chilblain lupus 1 (CHBL1) [MIM:610448] |
64220 | Q9NSU2 (TREX1) | R | H | 114 | rs72556554 | Disease: Systemic lupus erythematosu s (SLE) [MIM:152700] |
64221 | Q9NSU2 (TREX1) | V | A | 122 | rs79993407 | Disease: Aicardi- Goutieres syndrome 1 (AGS1) [MIM:225750] |
64222 | Q9NSU2 (TREX1) | A | V | 158 | rs762011967 | Disease: Systemic lupus erythematosu s (SLE) [MIM:152700] |
64223 | Q9NSU2 (TREX1) | E | K | 198 | rs1416519719 | Disease: Aicardi- Goutieres syndrome 1 (AGS1) [MIM:225750] |
64224 | Q9NSU2 (TREX1) | D | H | 200 | - | Disease: Systemic lupus erythematosu s (SLE) [MIM:152700] |
64225 | Q9NSU2 (TREX1) | D | N | 200 | rs78846775 | Disease: Aicardi- Goutieres syndrome 1 (AGS1) [MIM:225750] |
64226 | Q9NSU2 (TREX1) | V | D | 201 | rs78408272 | Disease: Aicardi- Goutieres syndrome 1 (AGS1) [MIM:225750] |
64227 | Q9NSU2 (TREX1) | G | S | 227 | rs113107733 | Disease: Systemic lupus erythematosu s (SLE) [MIM:152700] |
64228 | Q9NSU2 (TREX1) | R | S | 240 | rs72556555 | Disease: Systemic lupus erythematosu s (SLE) [MIM:152700] |
64229 | Q9NSU2 (TREX1) | A | P | 247 | rs112741962 | Disease: Systemic lupus erythematosu s (SLE) [MIM:152700] |
64230 | Q9NSU2 (TREX1) | E | G | 266 | rs55999987 | Benign |
64231 | Q9NSU2 (TREX1) | P | L | 290 | rs148833270 | Disease: Systemic lupus erythematosu s (SLE) [MIM:152700] |
64232 | Q9NSU2 (TREX1) | T | P | 303 | rs76224909 | Disease: Aicardi- Goutieres syndrome 1 (AGS1) [MIM:225750] |
64233 | Q9NSU2 (TREX1) | Y | C | 305 | rs370504038 | Disease: Systemic lupus erythematosu s (SLE) [MIM:152700] |
64234 | Q9NSU2 (TREX1) | G | A | 306 | rs780022923 | Disease: Systemic lupus erythematosu s (SLE) [MIM:152700] |
64235 | Q9NSV4 (DIAPH3) | N | S | 363 | rs36084898 | Benign |
64236 | Q9NSV4 (DIAPH3) | F | L | 773 | rs35579086 | Benign |
64237 | Q9NSV4 (DIAPH3) | E | G | 1041 | rs7491389 | Benign |
64238 | Q9NSY1 (BMP2K) | D | V | 212 | rs56143363 | Benign |
64239 | Q9NSY1 (BMP2K) | R | H | 288 | rs55782848 | Benign |
64240 | Q9NSY1 (BMP2K) | G | S | 405 | rs2288255 | Benign |
64241 | Q9NSY1 (BMP2K) | Q | H | 486 | rs2114202 | Benign |
64242 | Q9NSY1 (BMP2K) | T | S | 1002 | rs12507099 | Benign |
64243 | Q9NSY2 (STARD5) | G | S | 74 | rs4384572 | Benign |
64244 | Q9NT22 (EMILIN3) | S | N | 532 | rs2235592 | Benign |
64245 | Q9NT68 (TENM2) | N | S | 728 | rs6862925 | Benign |
64246 | Q9NT68 (TENM2) | V | F | 1719 | rs11957063 | Benign |
64247 | Q9NTG1 (PKDREJ) | V | A | 26 | rs7293071 | Benign |
64248 | Q9NTG1 (PKDREJ) | R | Q | 528 | rs6008394 | Benign |
64249 | Q9NTG1 (PKDREJ) | L | P | 914 | rs6519993 | Benign |
64250 | Q9NTG1 (PKDREJ) | T | P | 992 | rs7291444 | Benign |
64251 | Q9NTG1 (PKDREJ) | V | A | 993 | rs34798212 | Benign |
64252 | Q9NTG1 (PKDREJ) | N | S | 1091 | rs6008384 | Benign |
64253 | Q9NTG1 (PKDREJ) | I | M | 1147 | rs36125344 | Benign |
64254 | Q9NTG1 (PKDREJ) | N | D | 1411 | rs35276226 | Benign |
64255 | Q9NTG1 (PKDREJ) | I | M | 1528 | rs4823496 | Benign |
64256 | Q9NTG1 (PKDREJ) | V | I | 1729 | rs9626829 | Benign |
64257 | Q9NTG7 (SIRT3) | R | W | 80 | rs28365927 | Benign |
64258 | Q9NTG7 (SIRT3) | V | I | 208 | rs11246020 | Benign |
64259 | Q9NTG7 (SIRT3) | G | S | 369 | rs3020901 | Benign |
64260 | Q9NTI2 (ATP8A2) | I | M | 376 | rs546968533 | Disease: Cerebellar ataxia, mental retardation, and dysequilibri um syndrome 4 (CMARQ4) [MIM:615268] |
64261 | Q9NTI2 (ATP8A2) | A | T | 1069 | rs2296242 | Benign |
64262 | Q9NTJ3 (SMC4) | S | R | 181 | rs35214835 | Benign |
64263 | Q9NTJ3 (SMC4) | N | S | 356 | rs33999879 | Benign |
64264 | Q9NTJ3 (SMC4) | E | D | 415 | rs2164675 | Benign |
64265 | Q9NTJ4 (MAN2C1) | R | C | 323 | rs200595616 | Benign |
64266 | Q9NTJ4 (MAN2C1) | R | H | 818 | rs58557444 | Benign |
64267 | Q9NTJ4 (MAN2C1) | V | M | 950 | rs3803467 | Benign |
64268 | Q9NTJ4 (MAN2C1) | V | I | 960 | rs3803466 | Benign |
64269 | Q9NTJ4 (MAN2C1) | R | K | 975 | rs5745934 | Benign |
64270 | Q9NTJ5 (SACM1L) | Y | F | 434 | rs1468542 | Benign |
64271 | Q9NTK1 (DEPP1) | I | M | 44 | rs11555140 | Benign |
64272 | Q9NTN3 (SLC35D1) | A | T | 82 | rs10157422 | Benign |
64273 | Q9NTQ9 (GJB4) | G | D | 12 | rs80358211 | Disease: Erythrokerat odermia variabilis et progressiva 2 (EKVP2) [MIM:617524] |
64274 | Q9NTQ9 (GJB4) | R | H | 22 | rs80358212 | Disease: Erythrokerat odermia variabilis et progressiva 2 (EKVP2) [MIM:617524] |
64275 | Q9NTQ9 (GJB4) | T | P | 85 | rs80358210 | Disease: Erythrokerat odermia variabilis et progressiva 2 (EKVP2) [MIM:617524] |
64276 | Q9NTQ9 (GJB4) | R | C | 103 | rs9426009 | Benign |
64277 | Q9NTQ9 (GJB4) | R | Q | 124 | rs140996335 | Benign |
64278 | Q9NTQ9 (GJB4) | F | L | 137 | rs80358206 | Disease: Erythrokerat odermia variabilis et progressiva 2 (EKVP2) [MIM:617524] |
64279 | Q9NTQ9 (GJB4) | R | C | 160 | rs148710003 | Benign |
64280 | Q9NTQ9 (GJB4) | C | W | 169 | rs79193415 | Benign |
64281 | Q9NTQ9 (GJB4) | F | Y | 189 | rs80358213 | Disease: Erythrokerat odermia variabilis et progressiva 2 (EKVP2) [MIM:617524] |
64282 | Q9NTQ9 (GJB4) | E | A | 204 | rs3738346 | Benign |
64283 | Q9NTU4 (CATSPERZ) | P | L | 68 | rs2286614 | Benign |
64284 | Q9NTW7 (ZFP64) | Q | P | 68 | rs7353222 | Benign |
64285 | Q9NTW7 (ZFP64) | P | L | 139 | rs6021773 | Benign |
64286 | Q9NTX7 (RNF146) | C | R | 25 | rs10081141 | Benign |
64287 | Q9NTX9 (FAM217B) | Y | C | 380 | rs6027210 | Benign |
64288 | Q9NTZ6 (RBM12) | N | S | 572 | rs17092928 | Benign |
64289 | Q9NTZ6 (RBM12) | P | L | 921 | rs6121012 | Benign |
64290 | Q9NU02 (ANKEF1) | P | T | 74 | rs7260784 | Benign |
64291 | Q9NU02 (ANKEF1) | L | Q | 324 | rs652633 | Benign |
64292 | Q9NU02 (ANKEF1) | G | E | 412 | rs524625 | Benign |
64293 | Q9NU02 (ANKEF1) | R | Q | 742 | rs6087119 | Benign |
64294 | Q9NU22 (MDN1) | F | V | 440 | rs4707569 | Benign |
64295 | Q9NU22 (MDN1) | I | V | 660 | rs12110451 | Benign |
64296 | Q9NU22 (MDN1) | A | V | 1044 | rs34764513 | Benign |
64297 | Q9NU22 (MDN1) | S | N | 1559 | rs4140446 | Benign |
64298 | Q9NU22 (MDN1) | H | D | 1929 | rs16882099 | Benign |
64299 | Q9NU22 (MDN1) | H | P | 2972 | rs34208137 | Benign |
64300 | Q9NU22 (MDN1) | E | K | 3004 | rs12530146 | Benign |
64301 | Q9NU22 (MDN1) | H | Y | 3423 | rs9294445 | Benign |
64302 | Q9NU22 (MDN1) | A | G | 3794 | rs34766278 | Benign |
64303 | Q9NU22 (MDN1) | R | L | 3986 | rs17293121 | Benign |
64304 | Q9NU22 (MDN1) | A | S | 4044 | rs9353689 | Benign |
64305 | Q9NU22 (MDN1) | A | T | 4167 | rs35509794 | Benign |
64306 | Q9NU22 (MDN1) | I | T | 4720 | rs16882046 | Benign |
64307 | Q9NU22 (MDN1) | D | E | 4783 | rs36040566 | Benign |
64308 | Q9NU22 (MDN1) | N | K | 5251 | rs4707557 | Benign |
64309 | Q9NU23 (LYRM2) | R | W | 34 | rs11553069 | Benign |
64310 | Q9NU23 (LYRM2) | K | E | 46 | rs34012596 | Benign |
64311 | Q9NU23 (LYRM2) | T | P | 60 | rs1055889 | Benign |
64312 | Q9NU39 (FOXD4L1) | V | I | 29 | rs9308683 | Benign |
64313 | Q9NU63 (ZFP57) | N | S | 114 | rs9461544 | Benign |
64314 | Q9NU63 (ZFP57) | R | H | 166 | rs199589695 | Disease: Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410] |
64315 | Q9NU63 (ZFP57) | H | N | 193 | rs78378398 | Disease: Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410] |
64316 | Q9NU63 (ZFP57) | D | V | 284 | rs2535241 | Benign |
64317 | Q9NU63 (ZFP57) | H | D | 374 | rs79020217 | Disease: Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410] |
64318 | Q9NUA8 (ZBTB40) | A | T | 225 | rs6659222 | Benign |
64319 | Q9NUA8 (ZBTB40) | M | I | 267 | rs36115661 | Benign |
64320 | Q9NUA8 (ZBTB40) | Y | C | 595 | rs209729 | Benign |
64321 | Q9NUA8 (ZBTB40) | V | M | 997 | rs209720 | Benign |
64322 | Q9NUB1 (ACSS1) | V | M | 488 | rs6050249 | Benign |
64323 | Q9NUD7 (C20orf96) | I | F | 305 | rs3827147 | Benign |
64324 | Q9NUD9 (PIGV) | Q | K | 256 | rs267606952 | Disease: Hyperphospha tasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300] |
64325 | Q9NUD9 (PIGV) | A | E | 341 | rs139073416 | Disease: Hyperphospha tasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300] |
64326 | Q9NUD9 (PIGV) | A | V | 341 | rs139073416 | Disease: Hyperphospha tasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300] |
64327 | Q9NUD9 (PIGV) | H | P | 385 | rs267606951 | Disease: Hyperphospha tasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300] |
64328 | Q9NUJ1 (ABHD10) | I | V | 251 | rs17429033 | Benign |
64329 | Q9NUJ3 (TCP11L1) | H | Q | 109 | rs16923785 | Benign |
64330 | Q9NUJ3 (TCP11L1) | K | R | 178 | rs2273549 | Benign |
64331 | Q9NUL3 (STAU2) | V | M | 198 | rs949493 | Benign |
64332 | Q9NUL7 (DDX28) | T | A | 4 | rs237831 | Benign |
64333 | Q9NUM3 (SLC39A9) | E | D | 64 | rs2296723 | Benign |
64334 | Q9NUM3 (SLC39A9) | M | T | 221 | rs2232059 | Benign |
64335 | Q9NUM3 (SLC39A9) | R | C | 285 | rs17855898 | Benign |
64336 | Q9NUM4 (TMEM106B) | T | S | 185 | rs3173615 | Benign |
64337 | Q9NUM4 (TMEM106B) | D | N | 252 | rs1554310600 | Disease: Leukodystrop hy, hypomyelinat ing, 16 (HLD16) [MIM:617964] |
64338 | Q9NUN5 (LMBRD1) | T | A | 144 | rs12214456 | Benign |
64339 | Q9NUN5 (LMBRD1) | I | V | 395 | rs17854411 | Benign |
64340 | Q9NUN5 (LMBRD1) | D | E | 469 | rs12648 | Benign |
64341 | Q9NUN7 (ACER3) | E | G | 33 | rs1554988032 | Disease: Leukodystrop hy, progressive, early childhood- onset (PLDECO) [MIM:617762] |
64342 | Q9NUP7 (TRMT13) | A | V | 48 | rs687513 | Benign |
64343 | Q9NUQ2 (AGPAT5) | Y | C | 77 | rs17077958 | Benign |
64344 | Q9NUQ3 (TXLNG) | I | V | 246 | rs5969783 | Benign |
64345 | Q9NUQ7 (UFSP2) | N | T | 83 | rs17850669 | Benign |
64346 | Q9NUQ7 (UFSP2) | Y | H | 290 | rs796052130 | Disease: Beukes familial hip dysplasia (BFHD) [MIM:142669] |
64347 | Q9NUQ7 (UFSP2) | D | A | 426 | rs1554022725 | Disease: Spondyloepim etaphyseal dysplasia, Di Rocco type (SEMDDR) [MIM:617974] |
64348 | Q9NUQ8 (ABCF3) | P | L | 503 | rs11706273 | Benign |
64349 | Q9NUQ8 (ABCF3) | R | H | 510 | rs9811715 | Benign |
64350 | Q9NUQ9 (CYRIB) | N | K | 169 | - | Benign |
64351 | Q9NUR3 (TMEM74B) | L | M | 33 | rs35393697 | Benign |
64352 | Q9NUT2 (ABCB8) | V | I | 152 | rs4148844 | Benign |
64353 | Q9NUU6 (OTULINL) | F | L | 319 | rs16903574 | Benign |
64354 | Q9NUV7 (SPTLC3) | L | V | 140 | rs243887 | Benign |
64355 | Q9NUV9 (GIMAP4) | E | D | 128 | rs2293172 | Benign |
64356 | Q9NUW8 (TDP1) | E | D | 95 | rs35114462 | Benign |
64357 | Q9NUW8 (TDP1) | P | L | 101 | rs35455108 | Benign |
64358 | Q9NUW8 (TDP1) | A | T | 134 | rs28365054 | Benign |
64359 | Q9NUW8 (TDP1) | D | G | 187 | rs35271143 | Benign |
64360 | Q9NUW8 (TDP1) | R | Q | 304 | rs34452707 | Benign |
64361 | Q9NUW8 (TDP1) | H | R | 493 | rs119467003 | Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 1 (SCAN1) [MIM:607250] |
64362 | Q9NUW8 (TDP1) | P | L | 566 | rs767298655 | Benign |
64363 | Q9NUW8 (TDP1) | T | A | 569 | rs35973343 | Benign |
64364 | Q9NUX5 (POT1) | Y | C | 89 | rs587777472 | Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848] |
64365 | Q9NUX5 (POT1) | Q | E | 94 | rs587777474 | Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848] |
64366 | Q9NUX5 (POT1) | G | C | 95 | rs797045168 | Disease: Glioma 9 (GLM9) [MIM:616568] |
64367 | Q9NUX5 (POT1) | R | H | 137 | rs587777475 | Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848] |
64368 | Q9NUX5 (POT1) | D | N | 224 | rs202187871 | Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848] |
64369 | Q9NUX5 (POT1) | S | N | 270 | rs587777477 | Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848] |
64370 | Q9NUX5 (POT1) | R | L | 273 | rs587777476 | Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848] |
64371 | Q9NUX5 (POT1) | V | M | 529 | rs34973253 | Benign |
64372 | Q9NUX5 (POT1) | A | P | 532 | rs537377921 | Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848] |
64373 | Q9NUX5 (POT1) | Q | H | 623 | rs587777478 | Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848] |
64374 | Q9NUZ1 (ACOXL) | T | M | 255 | rs1554005 | Benign |
64375 | Q9NUZ1 (ACOXL) | P | L | 535 | rs17041850 | Benign |
64376 | Q9NV06 (DCAF13) | I | V | 42 | rs3134253 | Benign |
64377 | Q9NV06 (DCAF13) | N | S | 70 | rs13272825 | Benign |
64378 | Q9NV12 (TMEM140) | P | S | 6 | rs292500 | Benign |
64379 | Q9NV12 (TMEM140) | R | Q | 7 | rs3800592 | Benign |
64380 | Q9NV12 (TMEM140) | Q | E | 11 | rs11558290 | Benign |
64381 | Q9NV12 (TMEM140) | F | L | 29 | rs292501 | Benign |
64382 | Q9NV35 (NUDT15) | V | I | 18 | rs186364861 | Benign |
64383 | Q9NV35 (NUDT15) | R | C | 139 | rs116855232 | Benign |
64384 | Q9NV35 (NUDT15) | R | H | 139 | rs147390019 | Benign |
64385 | Q9NV39 (PRR34) | P | L | 28 | rs12159707 | Benign |
64386 | Q9NV39 (PRR34) | Q | R | 137 | rs59929908 | Benign |
64387 | Q9NV58 (RNF19A) | Q | H | 835 | rs9642785 | Benign |
64388 | Q9NV64 (TMEM39A) | A | T | 487 | rs1132200 | Benign |
64389 | Q9NV66 (TYW1) | G | V | 462 | rs2261015 | Benign |
64390 | Q9NV66 (TYW1) | H | R | 632 | rs2949097 | Benign |
64391 | Q9NV66 (TYW1) | D | N | 671 | rs28450001 | Benign |
64392 | Q9NV72 (ZNF701) | L | P | 70 | rs162832 | Benign |
64393 | Q9NV72 (ZNF701) | T | I | 182 | rs366793 | Benign |
64394 | Q9NV72 (ZNF701) | L | V | 185 | rs12462687 | Benign |
64395 | Q9NV72 (ZNF701) | D | E | 306 | rs427127 | Benign |
64396 | Q9NV72 (ZNF701) | T | K | 337 | rs373554 | Benign |
64397 | Q9NV72 (ZNF701) | R | H | 495 | rs3745102 | Benign |
64398 | Q9NV72 (ZNF701) | R | C | 521 | rs444172 | Benign |
64399 | Q9NV92 (NDFIP2) | P | S | 124 | rs55887763 | Benign |
64400 | Q9NV92 (NDFIP2) | A | V | 136 | rs11549502 | Benign |
64401 | Q9NVA1 (UQCC1) | R | Q | 51 | rs4911494 | Benign |
64402 | Q9NVA1 (UQCC1) | P | L | 85 | rs6088810 | Benign |
64403 | Q9NVC3 (SLC38A7) | L | P | 46 | rs7193572 | Benign |
64404 | Q9NVC3 (SLC38A7) | T | I | 78 | rs7191331 | Benign |
64405 | Q9NVC6 (MED17) | E | D | 69 | rs2848477 | Benign |
64406 | Q9NVC6 (MED17) | F | L | 357 | rs35313315 | Benign |
64407 | Q9NVC6 (MED17) | L | P | 371 | rs267607232 | Disease: Microcephaly , postnatal progressive, with seizures and brain atrophy (MCPHSBA) [MIM:613668] |
64408 | Q9NVD3 (SETD4) | I | V | 387 | rs2835239 | Benign |
64409 | Q9NVE4 (CCDC87) | A | T | 156 | rs1110707 | Benign |
64410 | Q9NVE4 (CCDC87) | F | L | 217 | rs17853294 | Benign |
64411 | Q9NVE5 (USP40) | V | A | 666 | rs838543 | Benign |
64412 | Q9NVE5 (USP40) | T | M | 1025 | rs34026756 | Benign |
64413 | Q9NVE5 (USP40) | R | C | 1111 | rs1048603 | Benign |
64414 | Q9NVE7 (PANK4) | A | V | 547 | rs7535528 | Benign |
64415 | Q9NVE7 (PANK4) | Q | R | 684 | rs2494620 | Benign |
64416 | Q9NVF9 (ETNK2) | R | Q | 227 | rs3737657 | Benign |
64417 | Q9NVG8 (TBC1D13) | V | A | 190 | rs1572912 | Benign |
64418 | Q9NVH0 (EXD2) | D | N | 231 | rs35010854 | Benign |
64419 | Q9NVH0 (EXD2) | Q | H | 518 | rs8007859 | Benign |
64420 | Q9NVH1 (DNAJC11) | V | M | 267 | rs12137794 | Benign |
64421 | Q9NVH1 (DNAJC11) | T | A | 290 | rs200454 | Benign |
64422 | Q9NVH1 (DNAJC11) | T | S | 290 | rs200454 | Benign |
64423 | Q9NVH2 (INTS7) | H | R | 425 | rs17851788 | Benign |
64424 | Q9NVH6 (TMLHE) | D | H | 244 | rs869320708 | Disease: Autism, X-linked 6 (AUTSX6) [MIM:300872] |
64425 | Q9NVI1 (FANCI) | A | V | 86 | rs17803620 | Benign |
64426 | Q9NVI1 (FANCI) | Q | K | 686 | rs28378332 | Benign |
64427 | Q9NVI1 (FANCI) | C | S | 742 | rs2283432 | Benign |
64428 | Q9NVI1 (FANCI) | H | Y | 858 | - | Disease: Fanconi anemia complementat ion group I (FANCI) [MIM:609053] |
64429 | Q9NVI1 (FANCI) | R | Q | 1285 | rs121918163 | Disease: Fanconi anemia complementat ion group I (FANCI) [MIM:609053] |
64430 | Q9NVI7 (ATAD3A) | G | D | 15 | rs2274435 | Benign |
64431 | Q9NVI7 (ATAD3A) | S | N | 101 | rs1619896 | Benign |
64432 | Q9NVL1 (FAM86C1P) | A | S | 7 | rs12283300 | Benign |
64433 | Q9NVL1 (FAM86C1P) | R | P | 30 | rs12283346 | Benign |
64434 | Q9NVL1 (FAM86C1P) | V | A | 70 | rs3935309 | Benign |
64435 | Q9NVL1 (FAM86C1P) | P | L | 135 | rs57679800 | Benign |
64436 | Q9NVL8 (CCDC198) | Y | C | 235 | rs1152530 | Benign |
64437 | Q9NVM4 (PRMT7) | R | T | 32 | rs149170494 | Disease: Short stature, brachydactyl y, intellectual developmenta l disability, and seizures (SBIDDS) [MIM:617157] |
64438 | Q9NVM4 (PRMT7) | R | G | 387 | rs762515973 | Disease: Short stature, brachydactyl y, intellectual developmenta l disability, and seizures (SBIDDS) [MIM:617157] |
64439 | Q9NVM4 (PRMT7) | W | R | 494 | rs751670999 | Disease: Short stature, brachydactyl y, intellectual developmenta l disability, and seizures (SBIDDS) [MIM:617157] |
64440 | Q9NVM9 (INTS13) | M | T | 66 | rs2306852 | Benign |
64441 | Q9NVN8 (GNL3L) | R | H | 320 | rs2298284 | Benign |
64442 | Q9NVP1 (DDX18) | T | S | 94 | rs1052637 | Benign |
64443 | Q9NVP1 (DDX18) | K | R | 647 | rs10179772 | Benign |
64444 | Q9NVQ4 (FAIM) | A | T | 117 | rs641320 | Benign |
64445 | Q9NVQ4 (FAIM) | L | S | 127 | rs13043 | Benign |
64446 | Q9NVR5 (DNAAF2) | E | D | 62 | rs2985684 | Benign |
64447 | Q9NVR5 (DNAAF2) | D | G | 768 | rs9989177 | Benign |
64448 | Q9NVR7 (TBCCD1) | K | R | 149 | rs7619912 | Benign |
64449 | Q9NVS9 (PNPO) | E | K | 50 | rs549477447 | Benign |
64450 | Q9NVS9 (PNPO) | R | Q | 116 | rs17679445 | Benign |
64451 | Q9NVS9 (PNPO) | R | H | 225 | rs550423482 | Disease: Pyridoxine-5 '-phosphate oxidase deficiency (PNPOD) [MIM:610090] |
64452 | Q9NVS9 (PNPO) | R | Q | 229 | rs773450573 | Disease: Pyridoxine-5 '-phosphate oxidase deficiency (PNPOD) [MIM:610090] |
64453 | Q9NVS9 (PNPO) | R | W | 229 | rs104894629 | Disease: Pyridoxine-5 '-phosphate oxidase deficiency (PNPOD) [MIM:610090] |
64454 | Q9NVU0 (POLR3E) | S | A | 46 | rs2347 | Benign |
64455 | Q9NVU7 (SDAD1) | K | Q | 258 | rs15481 | Benign |
64456 | Q9NVU7 (SDAD1) | A | D | 490 | rs34627298 | Benign |
64457 | Q9NVU7 (SDAD1) | S | C | 575 | rs2242471 | Benign |
64458 | Q9NVU7 (SDAD1) | V | I | 660 | rs17001276 | Benign |
64459 | Q9NVV0 (TMEM38B) | C | S | 254 | rs35232724 | Benign |
64460 | Q9NVV2 (C19orf73) | S | G | 106 | rs2232003 | Benign |
64461 | Q9NVV4 (MTPAP) | R | C | 162 | rs1047991 | Benign |
64462 | Q9NVV4 (MTPAP) | Y | H | 221 | rs17855118 | Benign |
64463 | Q9NVV4 (MTPAP) | C | R | 419 | rs17857517 | Benign |
64464 | Q9NVV4 (MTPAP) | N | D | 478 | rs267606900 | Disease: Spastic ataxia 4, autosomal recessive (SPAX4) [MIM:613672] |
64465 | Q9NVV4 (MTPAP) | S | N | 546 | rs17855116 | Benign |
64466 | Q9NVV5 (AIG1) | Q | E | 151 | rs1053193 | Benign |
64467 | Q9NVV9 (THAP1) | S | F | 6 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64468 | Q9NVV9 (THAP1) | S | P | 6 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64469 | Q9NVV9 (THAP1) | A | D | 7 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64470 | Q9NVV9 (THAP1) | Y | C | 8 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64471 | Q9NVV9 (THAP1) | G | C | 9 | rs267607112 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64472 | Q9NVV9 (THAP1) | N | K | 12 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64473 | Q9NVV9 (THAP1) | R | H | 13 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64474 | Q9NVV9 (THAP1) | K | E | 16 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64475 | Q9NVV9 (THAP1) | D | G | 17 | rs766483829 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64476 | Q9NVV9 (THAP1) | S | C | 21 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64477 | Q9NVV9 (THAP1) | S | T | 21 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64478 | Q9NVV9 (THAP1) | H | P | 23 | rs387907177 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64479 | Q9NVV9 (THAP1) | K | E | 24 | rs387907176 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64480 | Q9NVV9 (THAP1) | P | L | 26 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64481 | Q9NVV9 (THAP1) | P | R | 26 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64482 | Q9NVV9 (THAP1) | R | P | 29 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64483 | Q9NVV9 (THAP1) | R | Q | 29 | rs767952378 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64484 | Q9NVV9 (THAP1) | P | R | 30 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64485 | Q9NVV9 (THAP1) | L | H | 32 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64486 | Q9NVV9 (THAP1) | A | T | 39 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64487 | Q9NVV9 (THAP1) | C | F | 54 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64488 | Q9NVV9 (THAP1) | E | G | 56 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64489 | Q9NVV9 (THAP1) | H | N | 57 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64490 | Q9NVV9 (THAP1) | T | I | 59 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64491 | Q9NVV9 (THAP1) | L | R | 72 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64492 | Q9NVV9 (THAP1) | N | I | 75 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64493 | Q9NVV9 (THAP1) | I | V | 80 | rs372080941 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64494 | Q9NVV9 (THAP1) | F | L | 81 | rs118204013 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64495 | Q9NVV9 (THAP1) | C | R | 83 | rs768017019 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64496 | Q9NVV9 (THAP1) | K | R | 89 | rs267607111 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64497 | Q9NVV9 (THAP1) | F | S | 132 | rs950435041 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64498 | Q9NVV9 (THAP1) | N | K | 136 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64499 | Q9NVV9 (THAP1) | N | S | 136 | rs769988455 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64500 | Q9NVV9 (THAP1) | Y | C | 137 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64501 | Q9NVV9 (THAP1) | M | V | 143 | rs374512193 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64502 | Q9NVV9 (THAP1) | I | T | 149 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64503 | Q9NVV9 (THAP1) | H | P | 150 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64504 | Q9NVV9 (THAP1) | A | T | 166 | rs138918468 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64505 | Q9NVV9 (THAP1) | R | Q | 169 | rs767519301 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64506 | Q9NVV9 (THAP1) | C | R | 170 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64507 | Q9NVV9 (THAP1) | E | G | 174 | rs759392096 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64508 | Q9NVV9 (THAP1) | L | P | 177 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64509 | Q9NVV9 (THAP1) | L | S | 180 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64510 | Q9NVV9 (THAP1) | Q | K | 187 | - | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64511 | Q9NVV9 (THAP1) | D | N | 192 | rs377725442 | Disease: Dystonia 6, torsion (DYT6) [MIM:602629] |
64512 | Q9NVW2 (RLIM) | Y | C | 356 | rs786205133 | Disease: Tonne- Kalscheuer syndrome (TOKAS) [MIM:300978] |
64513 | Q9NVW2 (RLIM) | R | C | 387 | - | Disease: Tonne- Kalscheuer syndrome (TOKAS) [MIM:300978] |
64514 | Q9NVW2 (RLIM) | P | R | 587 | - | Disease: Tonne- Kalscheuer syndrome (TOKAS) [MIM:300978] |
64515 | Q9NVW2 (RLIM) | H | P | 590 | - | Benign |
64516 | Q9NVW2 (RLIM) | R | C | 599 | - | Disease: Tonne- Kalscheuer syndrome (TOKAS) [MIM:300978] |
64517 | Q9NVX0 (HAUS2) | T | P | 76 | rs34678957 | Benign |
64518 | Q9NVX2 (NLE1) | P | A | 6 | rs1471615 | Benign |
64519 | Q9NVX2 (NLE1) | R | K | 169 | rs7215209 | Benign |
64520 | Q9NVX2 (NLE1) | Y | H | 406 | rs2306513 | Benign |
64521 | Q9NVX2 (NLE1) | S | N | 434 | rs2306512 | Benign |
64522 | Q9NVX7 (KBTBD4) | D | N | 330 | rs11039302 | Benign |
64523 | Q9NVZ3 (NECAP2) | D | A | 149 | rs35056694 | Benign |
64524 | Q9NW07 (ZNF358) | N | S | 32 | rs11555037 | Benign |
64525 | Q9NW08 (POLR3B) | L | F | 104 | - | Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381] |
64526 | Q9NW08 (POLR3B) | S | G | 268 | - | Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381] |
64527 | Q9NW08 (POLR3B) | R | C | 442 | rs1442212683 | Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381] |
64528 | Q9NW08 (POLR3B) | T | K | 503 | rs267608683 | Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381] |
64529 | Q9NW08 (POLR3B) | V | E | 523 | rs138249161 | Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381] |
64530 | Q9NW08 (POLR3B) | C | R | 527 | - | Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381] |
64531 | Q9NW08 (POLR3B) | T | A | 740 | rs17038460 | Benign |
64532 | Q9NW08 (POLR3B) | R | H | 768 | rs267608687 | Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381] |
64533 | Q9NW08 (POLR3B) | D | E | 926 | rs267608689 | Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381] |
64534 | Q9NW13 (RBM28) | E | Q | 253 | rs11554671 | Benign |
64535 | Q9NW13 (RBM28) | L | P | 351 | rs118204055 | Disease: Alopecia, neurologic defects, and endocrinopat hy syndrome (ANES) [MIM:612079] |
64536 | Q9NW15 (ANO10) | R | Q | 462 | rs3772165 | Benign |
64537 | Q9NW15 (ANO10) | L | R | 510 | rs387907089 | Disease: Spinocerebel lar ataxia, autosomal recessive, 10 (SCAR10) [MIM:613728] |
64538 | Q9NW15 (ANO10) | T | M | 561 | rs17409162 | Benign |
64539 | Q9NW15 (ANO10) | V | A | 583 | rs17853862 | Benign |
64540 | Q9NW38 (FANCL) | S | F | 144 | rs36059257 | Benign |
64541 | Q9NW81 (DMAC2) | R | C | 9 | rs2231938 | Benign |
64542 | Q9NW81 (DMAC2) | H | R | 23 | rs2231939 | Benign |
64543 | Q9NW81 (DMAC2) | N | S | 34 | rs2231940 | Benign |
64544 | Q9NW81 (DMAC2) | C | S | 159 | rs1043413 | Benign |
64545 | Q9NW81 (DMAC2) | E | K | 230 | rs2231943 | Benign |
64546 | Q9NW97 (TMEM51) | V | A | 34 | rs17405421 | Benign |
64547 | Q9NW97 (TMEM51) | R | Q | 92 | rs3766158 | Benign |
64548 | Q9NWF4 (SLC52A1) | Q | R | 70 | rs346822 | Benign |
64549 | Q9NWF4 (SLC52A1) | A | V | 271 | rs346821 | Benign |
64550 | Q9NWF4 (SLC52A1) | V | M | 296 | rs2304445 | Benign |
64551 | Q9NWF4 (SLC52A1) | L | V | 386 | rs187609896 | Benign |
64552 | Q9NWF9 (RNF216) | R | C | 660 | rs1335215379 | Disease: Gordon Holmes syndrome (GDHS) [MIM:212840] |
64553 | Q9NWF9 (RNF216) | R | C | 694 | rs387907368 | Disease: Gordon Holmes syndrome (GDHS) [MIM:212840] |
64554 | Q9NWH7 (SPATA6) | R | W | 333 | rs1338314 | Benign |
64555 | Q9NWH7 (SPATA6) | C | F | 478 | rs1056042 | Benign |
64556 | Q9NWH7 (SPATA6) | C | S | 478 | rs1056042 | Benign |
64557 | Q9NWH7 (SPATA6) | C | Y | 478 | rs1056042 | Benign |
64558 | Q9NWH9 (SLTM) | V | L | 235 | rs7175939 | Benign |
64559 | Q9NWK9 (ZNHIT6) | G | R | 9 | rs17399721 | Benign |
64560 | Q9NWL6 (ASNSD1) | G | R | 190 | rs1437880 | Benign |
64561 | Q9NWL6 (ASNSD1) | M | T | 434 | rs35137531 | Benign |
64562 | Q9NWM0 (SMOX) | R | P | 301 | rs6084654 | Benign |
64563 | Q9NWM0 (SMOX) | H | Y | 522 | - | Benign |
64564 | Q9NWM3 (CUEDC1) | R | H | 169 | rs17762338 | Benign |
64565 | Q9NWM3 (CUEDC1) | P | S | 205 | rs2304942 | Benign |
64566 | Q9NWM3 (CUEDC1) | R | Q | 316 | rs34800498 | Benign |
64567 | Q9NWN3 (FBXO34) | V | A | 432 | rs35070799 | Benign |
64568 | Q9NWN3 (FBXO34) | I | N | 470 | rs1045002 | Benign |
64569 | Q9NWN3 (FBXO34) | L | P | 533 | rs3742569 | Benign |
64570 | Q9NWN3 (FBXO34) | G | V | 704 | rs10138395 | Benign |
64571 | Q9NWQ4 (GPATCH2L) | V | E | 132 | rs17104086 | Benign |
64572 | Q9NWQ9 (C14orf119) | L | V | 16 | rs35065609 | Benign |
64573 | Q9NWR8 (MCUB) | I | N | 63 | rs4698744 | Benign |
64574 | Q9NWR8 (MCUB) | Y | F | 253 | rs13846 | Benign |
64575 | Q9NWR8 (MCUB) | I | V | 255 | rs1053680 | Benign |
64576 | Q9NWS0 (PIH1D1) | M | L | 9 | rs2293012 | Benign |
64577 | Q9NWS0 (PIH1D1) | G | E | 10 | rs2293013 | Benign |
64578 | Q9NWS0 (PIH1D1) | V | I | 224 | rs13394 | Benign |
64579 | Q9NWS0 (PIH1D1) | D | E | 230 | rs34198213 | Benign |
64580 | Q9NWS0 (PIH1D1) | P | L | 287 | rs7462 | Benign |
64581 | Q9NWS1 (PARPBP) | V | M | 400 | rs12227879 | Benign |
64582 | Q9NWS6 (FAM118A) | V | L | 129 | rs11556482 | Benign |
64583 | Q9NWS6 (FAM118A) | R | H | 239 | rs6007594 | Benign |
64584 | Q9NWS8 (RMND1) | S | I | 42 | rs11550103 | Benign |
64585 | Q9NWS8 (RMND1) | R | H | 47 | rs6934360 | Benign |
64586 | Q9NWS8 (RMND1) | T | M | 132 | rs3734800 | Benign |
64587 | Q9NWS8 (RMND1) | R | Q | 417 | rs397515421 | Disease: Combined oxidative phosphorylat ion deficiency 11 (COXPD11) [MIM:614922] |
64588 | Q9NWS9 (ZNF446) | N | H | 192 | rs893185 | Benign |
64589 | Q9NWS9 (ZNF446) | P | S | 300 | rs36095067 | Benign |
64590 | Q9NWS9 (ZNF446) | R | H | 387 | rs882610 | Benign |
64591 | Q9NWT6 (HIF1AN) | P | A | 41 | rs2295778 | Benign |
64592 | Q9NWT8 (AURKAIP1) | Q | H | 107 | rs3736374 | Benign |
64593 | Q9NWU5 (MRPL22) | G | S | 154 | rs3749671 | Benign |
64594 | Q9NWW0 (HCFC1R1) | P | Q | 92 | rs10508 | Benign |
64595 | Q9NWW5 (CLN6) | R | T | 6 | rs154774636 | Disease: Ceroid lipofuscinos is, neuronal, 4A (CLN4A) [MIM:204300] |
64596 | Q9NWW5 (CLN6) | A | T | 12 | rs112239768 | Benign |
64597 | Q9NWW5 (CLN6) | A | T | 34 | rs146198681 | Benign |
64598 | Q9NWW5 (CLN6) | L | F | 47 | rs154774635 | Disease: Ceroid lipofuscinos is, neuronal, 4A (CLN4A) [MIM:204300] |
64599 | Q9NWW5 (CLN6) | R | H | 62 | rs751486476 | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64600 | Q9NWW5 (CLN6) | L | P | 67 | rs154774633 | Disease: Ceroid lipofuscinos is, neuronal, 4A (CLN4A) [MIM:204300] |
64601 | Q9NWW5 (CLN6) | E | Q | 72 | rs104894483 | Benign |
64602 | Q9NWW5 (CLN6) | N | K | 77 | rs154774641 | Disease: Ceroid lipofuscinos is, neuronal, 4A (CLN4A) [MIM:204300] |
64603 | Q9NWW5 (CLN6) | N | K | 90 | - | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64604 | Q9NWW5 (CLN6) | R | Q | 103 | rs154774634 | Disease: Ceroid lipofuscinos is, neuronal, 4A (CLN4A) [MIM:204300] |
64605 | Q9NWW5 (CLN6) | S | F | 104 | - | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64606 | Q9NWW5 (CLN6) | G | D | 123 | rs104894484 | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64607 | Q9NWW5 (CLN6) | R | C | 149 | rs747229909 | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64608 | Q9NWW5 (CLN6) | R | H | 149 | rs154774638 | Disease: Ceroid lipofuscinos is, neuronal, 4A (CLN4A) [MIM:204300] |
64609 | Q9NWW5 (CLN6) | P | L | 159 | rs919850756 | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64610 | Q9NWW5 (CLN6) | L | P | 169 | rs1344658850 | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64611 | Q9NWW5 (CLN6) | F | S | 186 | - | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64612 | Q9NWW5 (CLN6) | Y | C | 221 | rs764571295 | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64613 | Q9NWW5 (CLN6) | Y | S | 221 | rs764571295 | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64614 | Q9NWW5 (CLN6) | F | L | 234 | rs959199004 | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64615 | Q9NWW5 (CLN6) | F | T | 238 | - | Disease: Ceroid lipofuscinos is, neuronal, 4A (CLN4A) [MIM:204300] |
64616 | Q9NWW5 (CLN6) | M | T | 241 | rs1555438255 | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64617 | Q9NWW5 (CLN6) | R | H | 252 | rs374681194 | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64618 | Q9NWW5 (CLN6) | G | S | 259 | rs150363441 | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64619 | Q9NWW5 (CLN6) | P | T | 297 | rs1194940137 | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64620 | Q9NWW5 (CLN6) | P | L | 299 | rs758921701 | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64621 | Q9NWW5 (CLN6) | W | R | 300 | rs750937323 | Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780] |
64622 | Q9NWW5 (CLN6) | S | T | 308 | rs143578698 | Benign |
64623 | Q9NWW7 (C2orf42) | Q | P | 314 | rs3213941 | Benign |
64624 | Q9NWX6 (THG1L) | L | P | 232 | rs2270812 | Benign |
64625 | Q9NWY4 (HPF1) | R | K | 174 | rs1047642 | Benign |
64626 | Q9NWY4 (HPF1) | E | D | 331 | rs1047706 | Benign |
64627 | Q9NWZ3 (IRAK4) | I | V | 5 | rs56312115 | Benign |
64628 | Q9NWZ3 (IRAK4) | R | C | 12 | rs377584435 | Disease: IRAK4 deficiency (IRAK4D) [MIM:607676] |
64629 | Q9NWZ3 (IRAK4) | R | W | 20 | rs143625818 | Benign |
64630 | Q9NWZ3 (IRAK4) | I | T | 26 | rs138116867 | Benign |
64631 | Q9NWZ3 (IRAK4) | I | V | 39 | rs113588409 | Benign |
64632 | Q9NWZ3 (IRAK4) | S | R | 98 | rs4251469 | Benign |
64633 | Q9NWZ3 (IRAK4) | G | D | 298 | rs568782766 | Disease: IRAK4 deficiency (IRAK4D) [MIM:607676] |
64634 | Q9NWZ3 (IRAK4) | M | V | 355 | rs142376871 | Benign |
64635 | Q9NWZ3 (IRAK4) | H | R | 390 | rs4251583 | Benign |
64636 | Q9NWZ3 (IRAK4) | R | H | 391 | rs55944915 | Benign |
64637 | Q9NWZ3 (IRAK4) | A | T | 428 | rs4251545 | Benign |
64638 | Q9NWZ8 (GEMIN8) | E | V | 195 | rs3747421 | Benign |
64639 | Q9NX00 (TMEM160) | G | S | 120 | rs11083857 | Benign |
64640 | Q9NX02 (NLRP2) | T | M | 221 | rs17699678 | Benign |
64641 | Q9NX02 (NLRP2) | E | Q | 302 | rs3745904 | Benign |
64642 | Q9NX02 (NLRP2) | R | K | 364 | rs4306647 | Benign |
64643 | Q9NX02 (NLRP2) | T | A | 516 | rs61735082 | Benign |
64644 | Q9NX02 (NLRP2) | E | G | 522 | rs61735083 | Benign |
64645 | Q9NX02 (NLRP2) | T | A | 529 | rs34804158 | Benign |
64646 | Q9NX02 (NLRP2) | G | R | 884 | rs59779270 | Benign |
64647 | Q9NX02 (NLRP2) | A | E | 1052 | rs1043673 | Benign |
64648 | Q9NX05 (FAM120C) | I | T | 82 | rs2495783 | Benign |
64649 | Q9NX05 (FAM120C) | M | I | 934 | rs41304786 | Benign |
64650 | Q9NX08 (COMMD8) | A | P | 17 | rs35444219 | Benign |
64651 | Q9NX14 (NDUFB11) | E | K | 121 | rs1057519073 | Disease: Mitochondria l complex I deficiency, nuclear type 30 (MC1DN30) [MIM:301021] |
64652 | Q9NX18 (SDHAF2) | G | R | 78 | rs113560320 | Disease: Paragangliom as 2 (PGL2) [MIM:601650] |
64653 | Q9NX20 (MRPL16) | G | S | 29 | rs7122468 | Benign |
64654 | Q9NX20 (MRPL16) | R | Q | 199 | rs12787462 | Benign |
64655 | Q9NX20 (MRPL16) | R | C | 207 | rs491671 | Benign |
64656 | Q9NX24 (NHP2) | A | T | 118 | rs139588879 | Benign |
64657 | Q9NX24 (NHP2) | V | M | 126 | rs121908090 | Disease: Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) [MIM:613987] |
64658 | Q9NX24 (NHP2) | Y | H | 139 | rs121908089 | Disease: Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) [MIM:613987] |
64659 | Q9NX31 (OSER1) | V | G | 74 | rs9346 | Benign |
64660 | Q9NX45 (SOHLH2) | S | L | 14 | rs12873478 | Benign |
64661 | Q9NX45 (SOHLH2) | A | T | 339 | rs2296968 | Benign |
64662 | Q9NX46 (ADPRS) | T | P | 79 | - | Disease: Neurodegener ation, childhood- onset, stress- induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170] |
64663 | Q9NX46 (ADPRS) | E | K | 209 | rs2236387 | Benign |
64664 | Q9NX46 (ADPRS) | V | G | 335 | rs201735454 | Disease: Neurodegener ation, childhood- onset, stress- induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170] |
64665 | Q9NX52 (RHBDL2) | L | M | 273 | rs2147914 | Benign |
64666 | Q9NX55 (HYPK) | S | P | 105 | rs12702 | Benign |
64667 | Q9NX57 (RAB20) | N | S | 134 | rs426453 | Benign |
64668 | Q9NX58 (LYAR) | D | Y | 151 | rs2272739 | Benign |
64669 | Q9NX58 (LYAR) | H | R | 265 | rs7376390 | Benign |
64670 | Q9NX62 (BPNT2) | D | N | 177 | rs387907101 | Disease: Chondrodyspl asia with joint dislocations , GPAPP type (CDP-GPAPP) [MIM:614078] |
64671 | Q9NX62 (BPNT2) | T | P | 183 | rs387907102 | Disease: Chondrodyspl asia with joint dislocations , GPAPP type (CDP-GPAPP) [MIM:614078] |
64672 | Q9NX65 (ZSCAN32) | A | V | 266 | rs17136369 | Benign |
64673 | Q9NX65 (ZSCAN32) | Y | H | 332 | rs27230 | Benign |
64674 | Q9NX76 (CMTM6) | T | A | 91 | rs35574803 | Benign |
64675 | Q9NX78 (TMEM260) | A | S | 245 | rs17776256 | Benign |
64676 | Q9NX78 (TMEM260) | S | N | 565 | rs1041316 | Benign |
64677 | Q9NX94 (WBP1L) | S | P | 302 | rs284860 | Benign |
64678 | Q9NX94 (WBP1L) | A | S | 320 | rs284859 | Benign |
64679 | Q9NXA8 (SIRT5) | F | L | 285 | rs9464003 | Benign |
64680 | Q9NXA8 (SIRT5) | E | G | 305 | rs34162626 | Benign |
64681 | Q9NXB0 (MKS1) | D | Y | 19 | rs863225205 | Disease: Meckel syndrome 1 (MKS1) [MIM:249000] |
64682 | Q9NXB0 (MKS1) | L | F | 39 | rs11653070 | Benign |
64683 | Q9NXB0 (MKS1) | R | Q | 123 | rs202112856 | Benign |
64684 | Q9NXB0 (MKS1) | D | G | 286 | rs151023718 | Benign |
64685 | Q9NXB0 (MKS1) | I | T | 450 | rs200865108 | Benign |
64686 | Q9NXB0 (MKS1) | C | W | 492 | rs137853105 | Disease: Bardet-Biedl syndrome 13 (BBS13) [MIM:615990] |
64687 | Q9NXB9 (ELOVL2) | T | A | 216 | rs17855038 | Benign |
64688 | Q9NXB9 (ELOVL2) | V | M | 225 | rs6919726 | Benign |
64689 | Q9NXD2 (MTMR10) | R | H | 648 | rs6493352 | Benign |
64690 | Q9NXE4 (SMPD4) | L | P | 231 | - | Disease: Neurodevelop mental disorder with microcephaly , arthrogrypos is, and structural brain anomalies (NEDMABA) [MIM:618622] |
64691 | Q9NXF7 (DCAF16) | N | S | 45 | rs34085539 | Benign |
64692 | Q9NXF7 (DCAF16) | T | I | 129 | rs7690457 | Benign |
64693 | Q9NXF8 (ZDHHC7) | V | I | 201 | rs13334011 | Benign |
64694 | Q9NXG0 (CNTLN) | T | A | 284 | rs3808795 | Benign |
64695 | Q9NXG0 (CNTLN) | E | D | 291 | rs3808794 | Benign |
64696 | Q9NXG0 (CNTLN) | R | C | 562 | rs3808782 | Benign |
64697 | Q9NXG0 (CNTLN) | T | I | 695 | rs7035276 | Benign |
64698 | Q9NXG0 (CNTLN) | T | A | 1376 | rs2499057 | Benign |
64699 | Q9NXG2 (THUMPD1) | E | D | 311 | rs11074471 | Benign |
64700 | Q9NXG6 (P4HTM) | H | P | 161 | - | Disease: Hypotonia, hyperventila tion, impaired intellectual development, dysautonomia , epilepsy, and eye abnormalitie s (HIDEA) [MIM:618493] |
64701 | Q9NXI6 (RNF186) | A | T | 23 | rs1541185 | Benign |
64702 | Q9NXI6 (RNF186) | P | T | 208 | rs35541730 | Benign |
64703 | Q9NXJ0 (MS4A12) | A | D | 10 | rs12788393 | Benign |
64704 | Q9NXK6 (PAQR5) | I | T | 24 | rs17853893 | Benign |
64705 | Q9NXL2 (ARHGEF38) | M | V | 88 | rs2276970 | Benign |
64706 | Q9NXL6 (SIDT1) | G | S | 3 | rs9879313 | Benign |
64707 | Q9NXL6 (SIDT1) | V | M | 78 | rs2271496 | Benign |
64708 | Q9NXL6 (SIDT1) | T | I | 363 | rs33990195 | Benign |
64709 | Q9NXN4 (GDAP2) | P | R | 95 | rs12752437 | Benign |
64710 | Q9NXN4 (GDAP2) | G | S | 106 | rs12753610 | Benign |
64711 | Q9NXN4 (GDAP2) | Q | P | 312 | rs12145577 | Benign |
64712 | Q9NXN4 (GDAP2) | T | A | 489 | rs34924570 | Benign |
64713 | Q9NXP7 (GIN1) | G | C | 22 | rs17851289 | Benign |
64714 | Q9NXP7 (GIN1) | T | M | 239 | rs34813 | Benign |
64715 | Q9NXR5 (ANKRD10) | P | L | 320 | rs3742185 | Benign |
64716 | Q9NXR8 (ING3) | D | G | 20 | - | Disease: Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355] |
64717 | Q9NXS2 (QPCTL) | P | L | 214 | rs28708996 | Benign |
64718 | Q9NXS3 (KLHL28) | I | V | 349 | rs35728857 | Benign |
64719 | Q9NXW2 (DNAJB12) | E | K | 304 | rs3750784 | Benign |
64720 | Q9NXW9 (ALKBH4) | A | V | 247 | rs41275227 | Benign |
64721 | Q9NXX6 (NSMCE4A) | S | T | 72 | rs1065683 | Benign |
64722 | Q9NXZ1 (SAGE1) | N | K | 741 | rs35470903 | Benign |
64723 | Q9NXZ1 (SAGE1) | L | S | 805 | rs4829799 | Benign |
64724 | Q9NXZ2 (DDX43) | K | E | 625 | rs311686 | Benign |
64725 | Q9NXZ2 (DDX43) | Q | R | 629 | rs311685 | Benign |
64726 | Q9NY15 (STAB1) | L | M | 672 | rs12636502 | Benign |
64727 | Q9NY15 (STAB1) | M | V | 912 | rs9835659 | Benign |
64728 | Q9NY15 (STAB1) | G | R | 1127 | rs2286786 | Benign |
64729 | Q9NY15 (STAB1) | A | P | 1833 | rs7630214 | Benign |
64730 | Q9NY15 (STAB1) | I | V | 2282 | rs4434138 | Benign |
64731 | Q9NY15 (STAB1) | M | T | 2506 | rs13303 | Benign |
64732 | Q9NY25 (CLEC5A) | R | H | 141 | rs35942193 | Benign |
64733 | Q9NY27 (PPP4R2) | P | L | 174 | rs2306983 | Benign |
64734 | Q9NY27 (PPP4R2) | S | C | 282 | rs34742137 | Benign |
64735 | Q9NY28 (GALNT8) | Y | D | 53 | rs10849133 | Benign |
64736 | Q9NY28 (GALNT8) | Y | N | 53 | rs10849133 | Benign |
64737 | Q9NY28 (GALNT8) | E | K | 234 | rs16931676 | Benign |
64738 | Q9NY28 (GALNT8) | E | G | 267 | rs34776842 | Benign |
64739 | Q9NY28 (GALNT8) | F | S | 312 | rs34829532 | Benign |
64740 | Q9NY28 (GALNT8) | A | V | 337 | rs199920896 | Benign |
64741 | Q9NY28 (GALNT8) | D | G | 438 | rs559663039 | Benign |
64742 | Q9NY28 (GALNT8) | V | F | 515 | rs1468556 | Benign |
64743 | Q9NY28 (GALNT8) | V | M | 611 | rs34114277 | Benign |
64744 | Q9NY28 (GALNT8) | D | G | 630 | rs16931692 | Benign |
64745 | Q9NY33 (DPP3) | R | H | 76 | rs11826683 | Benign |
64746 | Q9NY33 (DPP3) | Q | H | 145 | rs11550299 | Benign |
64747 | Q9NY33 (DPP3) | R | H | 678 | rs2305535 | Benign |
64748 | Q9NY33 (DPP3) | E | K | 690 | rs12421620 | Benign |
64749 | Q9NY46 (SCN3A) | L | P | 247 | - | Disease: Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935] |
64750 | Q9NY46 (SCN3A) | R | Q | 357 | rs774195502 | Disease: Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935] |
64751 | Q9NY46 (SCN3A) | S | T | 606 | - | Benign |
64752 | Q9NY46 (SCN3A) | I | T | 875 | rs1057518801 | Disease: Epileptic encephalopat hy, early infantile, 62 (EIEE62) [MIM:617938] |
64753 | Q9NY46 (SCN3A) | V | I | 1084 | rs140990288 | Benign |
64754 | Q9NY46 (SCN3A) | V | A | 1107 | rs12474273 | Benign |
64755 | Q9NY46 (SCN3A) | E | K | 1160 | rs377632429 | Disease: Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935] |
64756 | Q9NY46 (SCN3A) | P | L | 1333 | rs1057520753 | Disease: Epileptic encephalopat hy, early infantile, 62 (EIEE62) [MIM:617938] |
64757 | Q9NY46 (SCN3A) | V | A | 1769 | rs1553517274 | Disease: Epileptic encephalopat hy, early infantile, 62 (EIEE62) [MIM:617938] |
64758 | Q9NY46 (SCN3A) | D | N | 1803 | rs3731762 | Benign |
64759 | Q9NY46 (SCN3A) | L | S | 1813 | - | Benign |
64760 | Q9NY47 (CACNA2D2) | A | V | 138 | rs35497591 | Benign |
64761 | Q9NY47 (CACNA2D2) | E | K | 334 | rs743855 | Benign |
64762 | Q9NY47 (CACNA2D2) | L | P | 1047 | - | Disease: Cerebellar atrophy with seizures and variable developmenta l delay (CASVDD) [MIM:618501] |
64763 | Q9NY56 (OBP2A) | N | K | 61 | rs3180357 | Benign |
64764 | Q9NY56 (OBP2A) | G | A | 130 | rs55695858 | Benign |
64765 | Q9NY56 (OBP2A) | P | S | 133 | rs3178137 | Benign |
64766 | Q9NY56 (OBP2A) | M | T | 159 | rs2853652 | Benign |
64767 | Q9NY57 (STK32B) | R | G | 198 | rs3733182 | Benign |
64768 | Q9NY57 (STK32B) | R | H | 244 | rs35207488 | Benign |
64769 | Q9NY57 (STK32B) | D | V | 310 | rs56259884 | Benign |
64770 | Q9NY57 (STK32B) | K | T | 342 | rs55961955 | Benign |
64771 | Q9NY64 (SLC2A8) | I | T | 253 | rs34064803 | Benign |
64772 | Q9NY65 (TUBA8) | A | V | 128 | rs2234331 | Benign |
64773 | Q9NY65 (TUBA8) | Q | R | 301 | rs2234333 | Benign |
64774 | Q9NY72 (SCN3B) | R | K | 6 | rs587777558 | Disease: Atrial fibrillation , familial, 16 (ATFB16) [MIM:613120] |
64775 | Q9NY72 (SCN3B) | S | N | 97 | rs35174956 | Benign |
64776 | Q9NY72 (SCN3B) | A | V | 130 | rs587777556 | Disease: Atrial fibrillation , familial, 16 (ATFB16) [MIM:613120] |
64777 | Q9NY72 (SCN3B) | M | T | 161 | rs587777557 | Disease: Atrial fibrillation , familial, 16 (ATFB16) [MIM:613120] |
64778 | Q9NY74 (ETAA1) | M | T | 221 | rs13036061 | Benign |
64779 | Q9NY74 (ETAA1) | S | N | 389 | rs3770657 | Benign |
64780 | Q9NY74 (ETAA1) | P | L | 715 | rs3770656 | Benign |
64781 | Q9NY74 (ETAA1) | P | S | 771 | rs3770655 | Benign |
64782 | Q9NY84 (VNN3) | H | R | 33 | rs764264 | Benign |
64783 | Q9NY84 (VNN3) | T | A | 89 | rs36012859 | Benign |
64784 | Q9NY84 (VNN3) | E | K | 91 | rs12174042 | Benign |
64785 | Q9NY84 (VNN3) | V | A | 222 | rs6569834 | Benign |
64786 | Q9NY87 (SPANXC) | V | F | 59 | - | Benign |
64787 | Q9NY91 (SLC5A4) | T | M | 4 | rs16990065 | Benign |
64788 | Q9NY91 (SLC5A4) | A | T | 46 | rs2235171 | Benign |
64789 | Q9NY99 (SNTG2) | S | Y | 168 | rs28505970 | Benign |
64790 | Q9NY99 (SNTG2) | S | L | 200 | rs6751090 | Benign |
64791 | Q9NY99 (SNTG2) | I | V | 391 | rs13023962 | Benign |
64792 | Q9NYA3 (GOLGA6A) | W | R | 200 | rs2018461 | Benign |
64793 | Q9NYA4 (MTMR4) | L | V | 170 | rs3744108 | Benign |
64794 | Q9NYA4 (MTMR4) | S | G | 280 | rs2302190 | Benign |
64795 | Q9NYA4 (MTMR4) | V | G | 297 | rs2302189 | Benign |
64796 | Q9NYB0 (TERF2IP) | K | E | 324 | rs4888444 | Benign |
64797 | Q9NYC9 (DNAH9) | R | H | 151 | rs17599639 | Benign |
64798 | Q9NYC9 (DNAH9) | Q | R | 445 | rs9892256 | Benign |
64799 | Q9NYC9 (DNAH9) | R | W | 842 | rs16945138 | Benign |
64800 | Q9NYC9 (DNAH9) | R | W | 1158 | rs8070501 | Benign |
64801 | Q9NYC9 (DNAH9) | T | A | 1221 | rs9916482 | Benign |
64802 | Q9NYC9 (DNAH9) | K | E | 1881 | - | Disease: Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300] |
64803 | Q9NYC9 (DNAH9) | M | V | 2087 | rs9892290 | Benign |
64804 | Q9NYC9 (DNAH9) | N | S | 2195 | rs3744581 | Benign |
64805 | Q9NYC9 (DNAH9) | Q | H | 2438 | rs2277658 | Benign |
64806 | Q9NYC9 (DNAH9) | K | R | 2961 | rs11870983 | Benign |
64807 | Q9NYC9 (DNAH9) | R | H | 2965 | rs375908701 | Disease: Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300] |
64808 | Q9NYC9 (DNAH9) | K | N | 2968 | rs11871037 | Benign |
64809 | Q9NYC9 (DNAH9) | R | L | 3398 | - | Disease: Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300] |
64810 | Q9NYC9 (DNAH9) | R | Q | 3726 | rs16945431 | Benign |
64811 | Q9NYC9 (DNAH9) | R | W | 3726 | rs3760436 | Benign |
64812 | Q9NYC9 (DNAH9) | D | N | 4036 | rs17612861 | Benign |
64813 | Q9NYC9 (DNAH9) | D | N | 4123 | rs1267599270 | Disease: Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300] |
64814 | Q9NYC9 (DNAH9) | M | I | 4374 | rs1990236 | Benign |
64815 | Q9NYC9 (DNAH9) | R | C | 4443 | rs9913494 | Benign |
64816 | Q9NYC9 (DNAH9) | W | R | 4462 | rs8074656 | Benign |
64817 | Q9NYF0 (DACT1) | N | K | 356 | - | Disease: Neural tube defects (NTD) [MIM:182940] |
64818 | Q9NYF0 (DACT1) | D | N | 446 | rs34015825 | Benign |
64819 | Q9NYF0 (DACT1) | A | V | 464 | rs17832998 | Benign |
64820 | Q9NYF0 (DACT1) | S | A | 628 | rs17094821 | Benign |
64821 | Q9NYF0 (DACT1) | G | S | 697 | rs698025 | Benign |
64822 | Q9NYF0 (DACT1) | D | G | 800 | rs773720154 | Benign |
64823 | Q9NYF3 (FAM53C) | R | C | 21 | rs35360938 | Benign |
64824 | Q9NYF5 (FAM13B) | M | V | 802 | rs33956817 | Benign |
64825 | Q9NYF8 (BCLAF1) | G | A | 66 | rs9942517 | Benign |
64826 | Q9NYF8 (BCLAF1) | S | C | 209 | rs6940018 | Benign |
64827 | Q9NYF8 (BCLAF1) | Y | D | 459 | rs1967446 | Benign |
64828 | Q9NYF8 (BCLAF1) | L | H | 461 | rs1967445 | Benign |
64829 | Q9NYF8 (BCLAF1) | N | S | 629 | rs7381749 | Benign |
64830 | Q9NYF8 (BCLAF1) | R | C | 875 | rs34541670 | Benign |
64831 | Q9NYG8 (KCNK4) | A | E | 172 | - | Disease: Facial dysmorphism, hypertrichos is, epilepsy, intellectual and developmenta l delay, and gingival overgrowth syndrome (FHEIG) [MIM:618381] |
64832 | Q9NYG8 (KCNK4) | A | P | 244 | - | Disease: Facial dysmorphism, hypertrichos is, epilepsy, intellectual and developmenta l delay, and gingival overgrowth syndrome (FHEIG) [MIM:618381] |
64833 | Q9NYG8 (KCNK4) | P | L | 328 | rs953778 | Benign |
64834 | Q9NYH9 (UTP6) | K | R | 35 | rs16967042 | Benign |
64835 | Q9NYH9 (UTP6) | Q | R | 69 | rs3760454 | Benign |
64836 | Q9NYH9 (UTP6) | L | V | 134 | rs34859443 | Benign |
64837 | Q9NYI0 (PSD3) | T | M | 186 | rs7016219 | Benign |
64838 | Q9NYI0 (PSD3) | T | P | 186 | rs7003060 | Benign |
64839 | Q9NYI0 (PSD3) | P | L | 293 | rs13263453 | Benign |
64840 | Q9NYJ7 (DLL3) | A | T | 115 | rs71647811 | Benign |
64841 | Q9NYJ7 (DLL3) | L | Q | 142 | rs55741253 | Benign |
64842 | Q9NYJ7 (DLL3) | F | C | 172 | rs8107127 | Benign |
64843 | Q9NYJ7 (DLL3) | L | P | 218 | rs1110627 | Benign |
64844 | Q9NYJ7 (DLL3) | G | D | 385 | rs104894674 | Disease: Spondylocost al dysostosis 1, autosomal recessive (SCDO1) [MIM:277300] |
64845 | Q9NYJ8 (TAB2) | P | S | 208 | rs267607101 | Disease: Congenital heart defects, multiple types, 2 (CHTD2) [MIM:614980] |
64846 | Q9NYJ8 (TAB2) | Q | K | 230 | rs267607100 | Disease: Congenital heart defects, multiple types, 2 (CHTD2) [MIM:614980] |
64847 | Q9NYK1 (TLR7) | Q | L | 11 | rs179008 | Benign |
64848 | Q9NYK1 (TLR7) | A | V | 448 | rs5743781 | Benign |
64849 | Q9NYK5 (MRPL39) | S | P | 31 | rs3989369 | Benign |
64850 | Q9NYK6 (EURL) | N | K | 115 | rs2824495 | Benign |
64851 | Q9NYK6 (EURL) | Q | R | 117 | rs1047976 | Benign |
64852 | Q9NYK6 (EURL) | D | E | 136 | rs1047978 | Benign |
64853 | Q9NYK6 (EURL) | Q | H | 195 | rs8128004 | Benign |
64854 | Q9NYK6 (EURL) | Y | H | 217 | rs2824494 | Benign |
64855 | Q9NYL2 (MAP3K20) | T | M | 267 | rs6758025 | Benign |
64856 | Q9NYL2 (MAP3K20) | A | V | 281 | rs34683477 | Benign |
64857 | Q9NYL2 (MAP3K20) | F | C | 368 | rs863225437 | Disease: Split-foot malformation with mesoaxial polydactyly (SFMMP) [MIM:616890] |
64858 | Q9NYL2 (MAP3K20) | S | L | 531 | rs3769148 | Benign |
64859 | Q9NYL2 (MAP3K20) | R | W | 580 | rs7593622 | Benign |
64860 | Q9NYL2 (MAP3K20) | P | T | 740 | rs56202258 | Benign |
64861 | Q9NYL2 (MAP3K20) | Y | H | 773 | rs35608243 | Benign |
64862 | Q9NYL2 (MAP3K20) | K | T | 784 | rs55830025 | Benign |
64863 | Q9NYL5 (CYP39A1) | R | P | 23 | rs12192544 | Benign |
64864 | Q9NYL5 (CYP39A1) | R | H | 103 | rs2277119 | Benign |
64865 | Q9NYL5 (CYP39A1) | Y | H | 288 | rs17856332 | Benign |
64866 | Q9NYL5 (CYP39A1) | N | K | 324 | rs7761731 | Benign |
64867 | Q9NYL5 (CYP39A1) | K | Q | 329 | rs41273654 | Benign |
64868 | Q9NYM4 (GPR83) | P | Q | 374 | rs3740868 | Benign |
64869 | Q9NYP3 (DONSON) | S | R | 28 | rs768071555 | Benign |
64870 | Q9NYP3 (DONSON) | C | R | 278 | - | Disease: Microcephaly , short stature, and limb abnormalitie s (MISSLA) [MIM:617604] |
64871 | Q9NYP3 (DONSON) | Y | C | 282 | - | Disease: Microcephaly , short stature, and limb abnormalitie s (MISSLA) [MIM:617604] |
64872 | Q9NYP3 (DONSON) | F | L | 292 | rs779803447 | Disease: Microcephaly , short stature, and limb abnormalitie s (MISSLA) [MIM:617604] |
64873 | Q9NYP3 (DONSON) | P | S | 433 | - | Disease: Microcephaly , short stature, and limb abnormalitie s (MISSLA) [MIM:617604] |
64874 | Q9NYP3 (DONSON) | M | T | 446 | rs1135401959 | Disease: Microcephaly , short stature, and limb abnormalitie s (MISSLA) [MIM:617604] |
64875 | Q9NYP3 (DONSON) | E | K | 504 | rs374688527 | Disease: Microcephaly , short stature, and limb abnormalitie s (MISSLA) [MIM:617604] |
64876 | Q9NYP7 (ELOVL5) | L | V | 72 | rs587777671 | Disease: Spinocerebel lar ataxia 38 (SCA38) [MIM:615957] |
64877 | Q9NYP7 (ELOVL5) | G | V | 230 | rs587777670 | Disease: Spinocerebel lar ataxia 38 (SCA38) [MIM:615957] |
64878 | Q9NYQ3 (HAO2) | E | K | 15 | rs34638261 | Benign |
64879 | Q9NYQ3 (HAO2) | L | M | 221 | rs6661625 | Benign |
64880 | Q9NYQ6 (CELSR1) | I | V | 587 | rs34141466 | Benign |
64881 | Q9NYQ6 (CELSR1) | S | W | 664 | rs4823850 | Benign |
64882 | Q9NYQ6 (CELSR1) | A | V | 773 | rs12170597 | Disease: Neural tube defects (NTD) [MIM:182940] |
64883 | Q9NYQ6 (CELSR1) | C | R | 1126 | rs4823561 | Benign |
64884 | Q9NYQ6 (CELSR1) | V | I | 1242 | rs6008842 | Benign |
64885 | Q9NYQ6 (CELSR1) | Y | H | 1894 | rs34467708 | Benign |
64886 | Q9NYQ6 (CELSR1) | L | P | 1994 | rs6008795 | Benign |
64887 | Q9NYQ6 (CELSR1) | L | P | 1995 | rs6008794 | Benign |
64888 | Q9NYQ6 (CELSR1) | T | M | 2045 | rs12169391 | Benign |
64889 | Q9NYQ6 (CELSR1) | I | V | 2107 | rs4044210 | Benign |
64890 | Q9NYQ6 (CELSR1) | R | H | 2219 | rs34267201 | Benign |
64891 | Q9NYQ6 (CELSR1) | T | A | 2268 | rs6007897 | Benign |
64892 | Q9NYQ6 (CELSR1) | R | P | 2312 | rs7287089 | Benign |
64893 | Q9NYQ6 (CELSR1) | R | Q | 2438 | rs199688538 | Disease: Neural tube defects (NTD) [MIM:182940] |
64894 | Q9NYQ6 (CELSR1) | N | T | 2739 | rs148905592 | Benign |
64895 | Q9NYQ6 (CELSR1) | C | S | 2797 | rs12165943 | Benign |
64896 | Q9NYQ6 (CELSR1) | E | Q | 2903 | rs9615351 | Benign |
64897 | Q9NYQ6 (CELSR1) | G | S | 2948 | rs35364389 | Benign |
64898 | Q9NYQ6 (CELSR1) | S | L | 2964 | rs6008777 | Disease: Neural tube defects (NTD) [MIM:182940] |
64899 | Q9NYQ6 (CELSR1) | P | A | 2983 | rs61741871 | Disease: Neural tube defects (NTD) [MIM:182940] |
64900 | Q9NYQ7 (CELSR3) | A | P | 157 | rs3733085 | Benign |
64901 | Q9NYQ7 (CELSR3) | S | T | 805 | rs3821875 | Benign |
64902 | Q9NYQ7 (CELSR3) | Q | R | 1758 | rs12107252 | Benign |
64903 | Q9NYQ7 (CELSR3) | M | I | 2630 | rs149614835 | Benign |
64904 | Q9NYQ8 (FAT2) | G | A | 201 | rs11739693 | Benign |
64905 | Q9NYQ8 (FAT2) | P | S | 248 | rs3734061 | Benign |
64906 | Q9NYQ8 (FAT2) | R | C | 574 | rs1432862 | Benign |
64907 | Q9NYQ8 (FAT2) | F | S | 686 | rs9324700 | Benign |
64908 | Q9NYQ8 (FAT2) | R | Q | 992 | rs3734056 | Benign |
64909 | Q9NYQ8 (FAT2) | G | S | 1004 | rs3734055 | Benign |
64910 | Q9NYQ8 (FAT2) | P | L | 1164 | rs2304053 | Benign |
64911 | Q9NYQ8 (FAT2) | Y | H | 1181 | rs6872614 | Benign |
64912 | Q9NYQ8 (FAT2) | L | P | 1295 | rs35640822 | Benign |
64913 | Q9NYQ8 (FAT2) | V | M | 1462 | rs2278371 | Benign |
64914 | Q9NYQ8 (FAT2) | G | S | 1515 | rs2278370 | Benign |
64915 | Q9NYQ8 (FAT2) | G | S | 1571 | rs10044879 | Benign |
64916 | Q9NYQ8 (FAT2) | R | W | 1895 | rs34464977 | Benign |
64917 | Q9NYQ8 (FAT2) | G | A | 2054 | rs34493925 | Benign |
64918 | Q9NYQ8 (FAT2) | F | S | 2428 | rs6892335 | Benign |
64919 | Q9NYQ8 (FAT2) | A | T | 2907 | rs3734053 | Benign |
64920 | Q9NYQ8 (FAT2) | R | Q | 3318 | rs7718054 | Benign |
64921 | Q9NYQ8 (FAT2) | R | W | 3318 | rs2304024 | Benign |
64922 | Q9NYQ8 (FAT2) | L | S | 3514 | rs2053028 | Benign |
64923 | Q9NYQ8 (FAT2) | M | I | 3631 | rs6650971 | Benign |
64924 | Q9NYQ8 (FAT2) | A | G | 3664 | rs35963695 | Benign |
64925 | Q9NYQ8 (FAT2) | Q | H | 3953 | rs2304029 | Benign |
64926 | Q9NYQ8 (FAT2) | P | L | 4117 | rs1105168 | Benign |
64927 | Q9NYR8 (RDH8) | H | Q | 136 | rs1122206 | Benign |
64928 | Q9NYR8 (RDH8) | M | T | 202 | rs1644731 | Benign |
64929 | Q9NYT0 (PLEK2) | T | M | 80 | rs34300264 | Benign |
64930 | Q9NYU1 (UGGT2) | A | T | 323 | rs12863903 | Benign |
64931 | Q9NYU1 (UGGT2) | S | A | 328 | rs816142 | Benign |
64932 | Q9NYU1 (UGGT2) | A | T | 821 | rs33949518 | Benign |
64933 | Q9NYU1 (UGGT2) | K | R | 865 | rs35060832 | Benign |
64934 | Q9NYU1 (UGGT2) | F | I | 924 | rs35780499 | Benign |
64935 | Q9NYU1 (UGGT2) | M | L | 994 | rs12876018 | Benign |
64936 | Q9NYU1 (UGGT2) | F | L | 1274 | rs9525072 | Benign |
64937 | Q9NYU1 (UGGT2) | Y | F | 1285 | rs35123499 | Benign |
64938 | Q9NYV4 (CDK12) | P | A | 530 | rs56121596 | Benign |
64939 | Q9NYV4 (CDK12) | L | Q | 1189 | rs56362165 | Benign |
64940 | Q9NYV4 (CDK12) | P | L | 1275 | rs34070318 | Benign |
64941 | Q9NYV6 (RRN3) | I | M | 348 | rs2941256 | Benign |
64942 | Q9NYV7 (TAS2R16) | V | M | 101 | rs28371571 | Benign |
64943 | Q9NYV7 (TAS2R16) | I | V | 114 | rs28371574 | Benign |
64944 | Q9NYV7 (TAS2R16) | L | P | 116 | rs28371575 | Benign |
64945 | Q9NYV7 (TAS2R16) | P | S | 161 | rs28371576 | Benign |
64946 | Q9NYV7 (TAS2R16) | N | K | 172 | rs846664 | Benign |
64947 | Q9NYV7 (TAS2R16) | Q | P | 177 | rs28371577 | Benign |
64948 | Q9NYV7 (TAS2R16) | N | D | 216 | rs28371578 | Benign |
64949 | Q9NYV7 (TAS2R16) | A | V | 221 | rs28371579 | Benign |
64950 | Q9NYV7 (TAS2R16) | R | H | 222 | rs860170 | Benign |
64951 | Q9NYV7 (TAS2R16) | V | M | 235 | rs28371580 | Benign |
64952 | Q9NYV7 (TAS2R16) | F | V | 240 | rs28371581 | Benign |
64953 | Q9NYV8 (TAS2R14) | T | A | 86 | rs16925868 | Benign |
64954 | Q9NYV8 (TAS2R14) | L | F | 201 | rs35804287 | Benign |
64955 | Q9NYV9 (TAS2R13) | N | S | 259 | rs1015443 | Benign |
64956 | Q9NYW0 (TAS2R10) | T | M | 156 | rs597468 | Benign |
64957 | Q9NYW1 (TAS2R9) | K | Q | 170 | rs11054043 | Benign |
64958 | Q9NYW1 (TAS2R9) | V | A | 187 | rs3741845 | Benign |
64959 | Q9NYW1 (TAS2R9) | L | V | 238 | rs11054042 | Benign |
64960 | Q9NYW2 (TAS2R8) | M | V | 308 | rs2537817 | Benign |
64961 | Q9NYW3 (TAS2R7) | T | M | 263 | rs11838055 | Benign |
64962 | Q9NYW3 (TAS2R7) | T | S | 263 | rs3759251 | Benign |
64963 | Q9NYW3 (TAS2R7) | M | I | 304 | rs619381 | Benign |
64964 | Q9NYW4 (TAS2R5) | G | S | 20 | rs2234013 | Benign |
64965 | Q9NYW4 (TAS2R5) | S | I | 26 | rs2227264 | Benign |
64966 | Q9NYW4 (TAS2R5) | P | L | 113 | rs2234014 | Benign |
64967 | Q9NYW4 (TAS2R5) | Y | C | 167 | rs34529840 | Benign |
64968 | Q9NYW4 (TAS2R5) | R | Q | 213 | rs2234015 | Benign |
64969 | Q9NYW4 (TAS2R5) | R | L | 294 | rs2234016 | Benign |
64970 | Q9NYW5 (TAS2R4) | R | Q | 3 | rs2233995 | Benign |
64971 | Q9NYW5 (TAS2R4) | F | S | 7 | rs2233998 | Benign |
64972 | Q9NYW5 (TAS2R4) | F | L | 62 | rs2233999 | Benign |
64973 | Q9NYW5 (TAS2R4) | T | M | 74 | rs2234000 | Benign |
64974 | Q9NYW5 (TAS2R4) | V | L | 96 | rs2234001 | Benign |
64975 | Q9NYW5 (TAS2R4) | S | N | 171 | rs2234002 | Benign |
64976 | Q9NYW5 (TAS2R4) | I | V | 191 | rs2234003 | Benign |
64977 | Q9NYW7 (TAS2R1) | R | H | 111 | rs41469 | Benign |
64978 | Q9NYW7 (TAS2R1) | C | Y | 141 | rs2234232 | Benign |
64979 | Q9NYW7 (TAS2R1) | R | W | 206 | rs2234233 | Benign |
64980 | Q9NYW8 (RBAK) | G | E | 229 | rs35352738 | Benign |
64981 | Q9NYY1 (IL20) | R | Q | 107 | rs35856950 | Benign |
64982 | Q9NYY3 (PLK2) | E | K | 436 | rs55768901 | Benign |
64983 | Q9NYY3 (PLK2) | P | L | 487 | rs55645589 | Benign |
64984 | Q9NYY8 (FASTKD2) | S | N | 15 | rs3762568 | Benign |
64985 | Q9NYY8 (FASTKD2) | V | E | 445 | rs13003768 | Benign |
64986 | Q9NYZ1 (TVP23B) | G | E | 55 | rs61075345 | Benign |
64987 | Q9NYZ2 (SLC25A37) | I | V | 87 | rs2942194 | Benign |
64988 | Q9NYZ2 (SLC25A37) | R | Q | 96 | rs3736032 | Benign |
64989 | Q9NYZ3 (GTSE1) | T | A | 181 | rs6008600 | Benign |
64990 | Q9NYZ3 (GTSE1) | A | V | 200 | rs34404175 | Benign |
64991 | Q9NYZ3 (GTSE1) | A | T | 274 | rs35503220 | Benign |
64992 | Q9NYZ3 (GTSE1) | S | N | 303 | rs6008622 | Benign |
64993 | Q9NYZ3 (GTSE1) | S | N | 322 | rs6008622 | Benign |
64994 | Q9NYZ3 (GTSE1) | D | E | 463 | rs6008684 | Benign |
64995 | Q9NYZ3 (GTSE1) | S | L | 470 | rs2281192 | Benign |
64996 | Q9NYZ3 (GTSE1) | W | R | 506 | rs140054 | Benign |
64997 | Q9NYZ3 (GTSE1) | A | T | 635 | rs16995138 | Benign |
64998 | Q9NYZ4 (SIGLEC8) | S | P | 170 | rs10409962 | Benign |
64999 | Q9NYZ4 (SIGLEC8) | R | G | 388 | rs3829659 | Benign |
65000 | Q9NZ01 (TECR) | P | L | 182 | rs199469705 | Disease: Mental retardation, autosomal recessive 14 (MRT14) [MIM:614020] |
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