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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.

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# UniProt accession
(Gene in neXtProt)		 Wild type amino acid Mutant amino acid Residue index in UniProt dbSNP Disease association [OMIM ID]
20001 P17066 (HSPA6) T K 297 rs41297718 Benign
20002 P17066 (HSPA6) V F 336 rs417707 Benign
20003 P17066 (HSPA6) S I 464 rs388218 Benign
20004 P17066 (HSPA6) R H 471 rs41299256 Benign
20005 P17066 (HSPA6) K E 528 rs570189 Benign
20006 P17066 (HSPA6) K R 528 rs570167 Benign
20007 P17066 (HSPA6) D E 562 rs753856 Benign
20008 P17066 (HSPA6) M V 572 rs452004 Benign
20009 P17066 (HSPA6) R Q 577 rs368844 Benign
20010 P17066 (HSPA6) T A 626 rs41299260 Benign
20011 P17097 (ZNF7) G R 188 rs1735169 Benign
20012 P17097 (ZNF7) S L 347 rs2228180 Benign
20013 P17097 (ZNF7) L F 596 rs1735170 Benign
20014 P17181 (IFNAR1) V L 168 rs2257167 Benign
20015 P17181 (IFNAR1) V I 307 rs17875833 Benign
20016 P17181 (IFNAR1) T M 359 rs17875834 Benign
20017 P17213 (BPI) A T 12 rs5743497 Benign
20018 P17213 (BPI) A V 12 rs5743498 Benign
20019 P17213 (BPI) A V 16 rs1341023 Benign
20020 P17213 (BPI) R C 90 rs5743500 Benign
20021 P17213 (BPI) E Q 140 rs5743506 Benign
20022 P17213 (BPI) A V 196 rs5743509 Benign
20023 P17213 (BPI) E K 216 rs4358188 Benign
20024 P17213 (BPI) A V 280 rs5741804 Benign
20025 P17213 (BPI) V I 377 rs5743524 Benign
20026 P17213 (BPI) N D 404 rs5741809 Benign
20027 P17213 (BPI) K E 451 rs5743542 Benign
20028 P17252 (PRKCA) M V 489 rs34406842 Benign
20029 P17252 (PRKCA) V I 568 rs6504459 Benign
20030 P17275 (JUNB) L V 230 rs17880705 Benign
20031 P17301 (ITGA2) I L 532 rs199808499 Benign
20032 P17301 (ITGA2) K E 534 rs1801106 Benign
20033 P17301 (ITGA2) N K 691 rs3212557 Benign
20034 P17301 (ITGA2) N S 927 rs2287870 Benign
20035 P17301 (ITGA2) K Q 1127 rs3212645 Benign
20036 P17302 (GJA1) G V 2 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20037 P17302 (GJA1) L V 7 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20038 P17302 (GJA1) G V 8 rs864309644 Disease: Palmoplantar keratoderma and congenital alopecia 1 (PPKCA1) [MIM:104100]
20039 P17302 (GJA1) L I 11 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20040 P17302 (GJA1) L P 11 rs121912969 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20041 P17302 (GJA1) Y S 17 rs104893961 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20042 P17302 (GJA1) S P 18 rs104893962 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20043 P17302 (GJA1) G R 21 rs104893963 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20044 P17302 (GJA1) G E 22 rs104893964 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20045 P17302 (GJA1) K T 23 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20046 P17302 (GJA1) S P 27 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20047 P17302 (GJA1) I M 31 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20048 P17302 (GJA1) A V 40 rs1554200992 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20049 P17302 (GJA1) A V 44 rs794729675 Disease: Erythrokerat odermia variabilis et progressiva 3 (EKVP3) [MIM:617525]
20050 P17302 (GJA1) D H 47 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20051 P17302 (GJA1) Q K 49 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20052 P17302 (GJA1) Q P 49 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20053 P17302 (GJA1) P H 59 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20054 P17302 (GJA1) S Y 69 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20055 P17302 (GJA1) R H 76 rs267606844 Disease: Hallermann- Streiff syndrome (HSS) [MIM:234100]
20056 P17302 (GJA1) R S 76 rs267606845 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20057 P17302 (GJA1) S Y 86 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20058 P17302 (GJA1) L V 90 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20059 P17302 (GJA1) H R 95 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20060 P17302 (GJA1) V A 96 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20061 P17302 (GJA1) V E 96 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20062 P17302 (GJA1) V M 96 rs28931601 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20063 P17302 (GJA1) Y C 98 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20064 P17302 (GJA1) K N 102 rs1554201011 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20065 P17302 (GJA1) L P 106 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20066 P17302 (GJA1) L R 106 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20067 P17302 (GJA1) E D 110 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20068 P17302 (GJA1) L P 113 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20069 P17302 (GJA1) I T 130 rs1554201017 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20070 P17302 (GJA1) K E 134 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20071 P17302 (GJA1) K N 134 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20072 P17302 (GJA1) G R 138 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20073 P17302 (GJA1) G S 143 rs28931600 Disease: Syndactyly 3 (SDTY3) [MIM:186100]
20074 P17302 (GJA1) M T 147 rs1057518872 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20075 P17302 (GJA1) R Q 148 rs962041031 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20076 P17302 (GJA1) T A 154 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20077 P17302 (GJA1) T N 154 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20078 P17302 (GJA1) A T 168 rs2228961 Benign
20079 P17302 (GJA1) H P 194 rs104893966 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20080 P17302 (GJA1) S F 201 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20081 P17302 (GJA1) R H 202 rs750294638 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20082 P17302 (GJA1) K R 206 rs397518464 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20083 P17302 (GJA1) V L 216 rs1554201043 Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20084 P17302 (GJA1) S Y 220 - Disease: Oculodentodi gital dysplasia (ODDD) [MIM:164200]
20085 P17302 (GJA1) E D 227 rs875989815 Disease: Erythrokerat odermia variabilis et progressiva 3 (EKVP3) [MIM:617525]
20086 P17302 (GJA1) R Q 239 rs764670582 Disease: Craniometaph yseal dysplasia, autosomal recessive (CMDR) [MIM:218400]
20087 P17302 (GJA1) A V 253 rs17653265 Benign
20088 P17302 (GJA1) T A 326 - Benign
20089 P17302 (GJA1) S G 373 - Benign
20090 P17405 (SMPD1) V A 36 rs1050228 Benign
20091 P17405 (SMPD1) C H 91 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20092 P17405 (SMPD1) C W 94 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20093 P17405 (SMPD1) L P 105 rs751269562 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20094 P17405 (SMPD1) V A 132 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20095 P17405 (SMPD1) L P 139 rs797044797 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20096 P17405 (SMPD1) C R 159 rs727504166 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20097 P17405 (SMPD1) L P 163 rs780134410 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20098 P17405 (SMPD1) G R 168 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20099 P17405 (SMPD1) I N 178 rs749780769 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20100 P17405 (SMPD1) P L 186 rs1057517195 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20101 P17405 (SMPD1) A P 198 rs797044798 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20102 P17405 (SMPD1) R C 202 rs749595299 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20103 P17405 (SMPD1) W R 211 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20104 P17405 (SMPD1) L R 216 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20105 P17405 (SMPD1) L M 227 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20106 P17405 (SMPD1) L P 227 rs764317969 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20107 P17405 (SMPD1) C R 228 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20108 P17405 (SMPD1) R C 230 rs989639224 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20109 P17405 (SMPD1) R H 230 rs141387770 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20110 P17405 (SMPD1) G D 234 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20111 P17405 (SMPD1) A V 243 rs1291958011 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20112 P17405 (SMPD1) G R 244 rs120074122 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20113 P17405 (SMPD1) W C 246 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20114 P17405 (SMPD1) G D 247 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20115 P17405 (SMPD1) G S 247 rs587779408 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20116 P17405 (SMPD1) E K 248 rs200763423 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20117 P17405 (SMPD1) E Q 248 rs200763423 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20118 P17405 (SMPD1) S R 250 rs750779804 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20119 P17405 (SMPD1) D E 253 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20120 P17405 (SMPD1) D H 253 rs398123479 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20121 P17405 (SMPD1) P S 255 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20122 P17405 (SMPD1) T I 258 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20123 P17405 (SMPD1) D A 280 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20124 P17405 (SMPD1) P F 282 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20125 P17405 (SMPD1) A T 283 rs752148586 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20126 P17405 (SMPD1) Q K 294 rs120074128 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20127 P17405 (SMPD1) R Q 296 rs35824453 Benign
20128 P17405 (SMPD1) L P 304 rs120074124 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20129 P17405 (SMPD1) V M 314 rs1228068212 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20130 P17405 (SMPD1) Y H 315 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20131 P17405 (SMPD1) V E 318 rs12575136 Benign
20132 P17405 (SMPD1) G R 319 rs757934797 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20133 P17405 (SMPD1) H Y 321 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20134 P17405 (SMPD1) T I 324 rs1050233 Benign
20135 P17405 (SMPD1) P A 325 rs761308217 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20136 P17405 (SMPD1) P R 332 rs202081954 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20137 P17405 (SMPD1) L P 343 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20138 P17405 (SMPD1) L R 343 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20139 P17405 (SMPD1) A D 359 rs797044800 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20140 P17405 (SMPD1) Y C 369 rs372287825 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20141 P17405 (SMPD1) P S 373 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20142 P17405 (SMPD1) R H 378 rs559088058 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20143 P17405 (SMPD1) R L 378 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20144 P17405 (SMPD1) S P 381 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20145 P17405 (SMPD1) M I 384 rs120074121 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20146 P17405 (SMPD1) N S 385 rs120074123 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20147 P17405 (SMPD1) C R 387 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20148 P17405 (SMPD1) N H 391 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20149 P17405 (SMPD1) N T 391 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20150 P17405 (SMPD1) W G 393 rs120074125 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20151 P17405 (SMPD1) W R 393 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20152 P17405 (SMPD1) A V 415 rs1451199796 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20153 P17405 (SMPD1) H R 423 rs767492080 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20154 P17405 (SMPD1) H Y 423 rs120074126 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20155 P17405 (SMPD1) G S 426 rs1554935136 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20156 P17405 (SMPD1) H R 427 rs794727629 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20157 P17405 (SMPD1) C R 433 rs779528546 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20158 P17405 (SMPD1) L P 434 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20159 P17405 (SMPD1) W C 437 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20160 P17405 (SMPD1) S R 438 rs267607073 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20161 P17405 (SMPD1) Y C 448 rs747143343 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20162 P17405 (SMPD1) L P 452 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20163 P17405 (SMPD1) A D 453 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20164 P17405 (SMPD1) A V 454 rs1402734026 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20165 P17405 (SMPD1) G D 458 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20166 P17405 (SMPD1) F S 465 rs1319643225 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20167 P17405 (SMPD1) Y S 469 rs267607074 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20168 P17405 (SMPD1) R W 476 rs182812968 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20169 P17405 (SMPD1) P L 477 rs753508874 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20170 P17405 (SMPD1) F L 482 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20171 P17405 (SMPD1) A E 484 rs267607075 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20172 P17405 (SMPD1) A V 487 rs141641266 Benign
20173 P17405 (SMPD1) T A 488 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20174 P17405 (SMPD1) Y N 490 rs398123477 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20175 P17405 (SMPD1) G S 492 rs144873307 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20176 P17405 (SMPD1) N I 494 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20177 P17405 (SMPD1) G S 496 rs1554935371 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20178 P17405 (SMPD1) R C 498 rs769904764 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20179 P17405 (SMPD1) R H 498 rs120074117 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20180 P17405 (SMPD1) R L 498 rs120074117 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20181 P17405 (SMPD1) S G 507 - Benign
20182 P17405 (SMPD1) G R 508 rs1050239 Benign
20183 P17405 (SMPD1) S F 510 rs200652683 Benign
20184 P17405 (SMPD1) H Q 516 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20185 P17405 (SMPD1) E V 517 rs142787001 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20186 P17405 (SMPD1) Y C 519 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20187 P17405 (SMPD1) I L 520 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20188 P17405 (SMPD1) N S 522 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20189 P17405 (SMPD1) Q H 525 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20190 P17405 (SMPD1) W R 535 rs1554935555 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20191 P17405 (SMPD1) Y H 539 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20192 P17405 (SMPD1) N K 549 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20193 P17405 (SMPD1) L P 551 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20194 P17405 (SMPD1) D Y 565 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20195 P17405 (SMPD1) F L 572 - Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20196 P17405 (SMPD1) K N 578 rs747342458 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20197 P17405 (SMPD1) G S 579 rs120074119 Disease: Niemann-Pick disease A (NPDA) [MIM:257200]
20198 P17405 (SMPD1) Q R 598 rs1554935731 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20199 P17405 (SMPD1) R H 602 rs370129081 Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20200 P17405 (SMPD1) R P 602 - Disease: Niemann-Pick disease B (NPDB) [MIM:607616]
20201 P17405 (SMPD1) S G 605 - Benign
20202 P17480 (UBTF) E K 210 rs1555582065 Disease: Neurodegener ation, childhood- onset, with brain atrophy (CONDBA) [MIM:617672]
20203 P17516 (AKR1C4) G E 135 rs11253043 Benign
20204 P17516 (AKR1C4) S C 145 rs3829125 Benign
20205 P17516 (AKR1C4) C Y 170 rs17851824 Benign
20206 P17516 (AKR1C4) Q R 250 rs4880718 Benign
20207 P17516 (AKR1C4) L V 311 rs17134592 Benign
20208 P17535 (JUND) G V 20 rs41478151 Benign
20209 P17538 (CTRB1) D H 222 rs8061550 Benign
20210 P17538 (CTRB1) T A 250 rs4737 Benign
20211 P17568 (NDUFB7) R G 106 rs3752220 Benign
20212 P17612 (PRKACA) L V 41 rs56029020 Benign
20213 P17612 (PRKACA) R Q 46 rs56085217 Benign
20214 P17612 (PRKACA) L R 206 rs386352352 Disease: Primary pigmented nodular adrenocortic al disease 4 (PPNAD4) [MIM:615830]
20215 P17612 (PRKACA) S C 264 rs35635531 Benign
20216 P17643 (TYRP1) A T 24 rs61758405 Disease: Albinism, oculocutaneo us, 3 (OCA3) [MIM:203290]
20217 P17643 (TYRP1) R C 93 rs387907171 Benign
20218 P17643 (TYRP1) R H 326 rs16929374 Benign
20219 P17643 (TYRP1) R Q 356 rs281865424 Disease: Albinism, oculocutaneo us, 3 (OCA3) [MIM:203290]
20220 P17655 (CAPN2) D E 22 rs25655 Benign
20221 P17655 (CAPN2) S G 68 rs2230083 Benign
20222 P17655 (CAPN2) K R 476 rs9804140 Benign
20223 P17655 (CAPN2) E Q 521 rs28370127 Benign
20224 P17655 (CAPN2) K Q 568 rs17599 Benign
20225 P17655 (CAPN2) K Q 677 rs2230082 Benign
20226 P17661 (DES) S I 2 rs58999456 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20227 P17661 (DES) S F 7 rs903985237 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20228 P17661 (DES) S F 13 rs62636495 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20229 P17661 (DES) R C 16 rs60798368 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20230 P17661 (DES) S F 46 rs60794845 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20231 P17661 (DES) S Y 46 rs60794845 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20232 P17661 (DES) N S 116 rs267607499 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20233 P17661 (DES) A D 120 - Disease: Cardiomyopat hy, dilated 1I (CMD1I) [MIM:604765]
20234 P17661 (DES) L P 136 rs397516695 Disease: Cardiomyopat hy, dilated 1I (CMD1I) [MIM:604765]
20235 P17661 (DES) A V 213 rs41272699 Benign
20236 P17661 (DES) K E 241 rs201945924 Benign
20237 P17661 (DES) E D 245 rs267607486 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20238 P17661 (DES) H R 326 - Benign
20239 P17661 (DES) A P 337 rs59962885 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20240 P17661 (DES) L R 338 rs57496341 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20241 P17661 (DES) N D 342 rs267607482 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20242 P17661 (DES) L P 345 rs57639980 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20243 P17661 (DES) R P 350 rs57965306 Disease: Neurogenic scapuloperon eal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]
20244 P17661 (DES) R P 355 rs61368398 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20245 P17661 (DES) A P 357 rs58898021 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20246 P17661 (DES) A P 360 rs121913000 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20247 P17661 (DES) L P 370 rs59308628 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20248 P17661 (DES) L P 385 rs57955682 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20249 P17661 (DES) Q P 389 rs121913004 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20250 P17661 (DES) N I 393 rs121913001 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20251 P17661 (DES) D Y 399 rs61130669 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20252 P17661 (DES) E K 401 rs57694264 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20253 P17661 (DES) R W 406 rs121913003 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20254 P17661 (DES) P S 419 rs62635763 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20255 P17661 (DES) T I 442 rs121913005 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20256 P17661 (DES) K M 449 - Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20257 P17661 (DES) K T 449 rs267607485 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20258 P17661 (DES) I M 451 rs121913002 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20259 P17661 (DES) T I 453 rs267607488 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20260 P17661 (DES) R W 454 rs267607490 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20261 P17661 (DES) S I 460 rs267607491 Disease: Myopathy, myofibrillar , 1 (MFM1) [MIM:601419]
20262 P17676 (CEBPB) G S 195 rs4253440 Benign
20263 P17677 (GAP43) V I 59 rs6291 Benign
20264 P17677 (GAP43) K E 162 rs11557762 Benign
20265 P17735 (TAT) N D 70 rs16973344 Benign
20266 P17735 (TAT) G V 362 rs587776511 Disease: Tyrosinemia 2 (TYRSN2) [MIM:276600]
20267 P17787 (CHRNB2) V L 287 rs74315291 Disease: Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375]
20268 P17787 (CHRNB2) V M 287 rs74315291 Disease: Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375]
20269 P17787 (CHRNB2) Q H 397 rs55685423 Benign
20270 P17812 (CTPS1) S I 571 rs17856308 Benign
20271 P17813 (ENG) T M 5 rs35400405 Benign
20272 P17813 (ENG) L P 8 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20273 P17813 (ENG) A D 11 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20274 P17813 (ENG) V F 49 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20275 P17813 (ENG) G V 52 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20276 P17813 (ENG) C R 53 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20277 P17813 (ENG) V D 105 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20278 P17813 (ENG) L R 107 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20279 P17813 (ENG) W C 149 rs878853657 Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20280 P17813 (ENG) A D 160 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20281 P17813 (ENG) A E 175 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20282 P17813 (ENG) R P 205 - Benign
20283 P17813 (ENG) I T 220 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20284 P17813 (ENG) L P 221 rs1554810378 Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20285 P17813 (ENG) L Q 221 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20286 P17813 (ENG) V E 238 rs1060501415 Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20287 P17813 (ENG) I S 263 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20288 P17813 (ENG) I T 263 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20289 P17813 (ENG) M R 269 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20290 P17813 (ENG) L P 306 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20291 P17813 (ENG) A D 308 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20292 P17813 (ENG) C S 363 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20293 P17813 (ENG) D H 366 rs1800956 Benign
20294 P17813 (ENG) C Y 394 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20295 P17813 (ENG) C S 412 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20296 P17813 (ENG) G V 413 rs121918401 Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20297 P17813 (ENG) R W 437 rs1434169817 Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20298 P17813 (ENG) L S 490 rs763475207 Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20299 P17813 (ENG) V M 504 rs116330805 Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20300 P17813 (ENG) R H 529 rs863223538 Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20301 P17813 (ENG) R P 529 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20302 P17813 (ENG) G S 545 rs142896669 Benign
20303 P17813 (ENG) G D 545 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20304 P17813 (ENG) L P 547 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20305 P17813 (ENG) D A 561 rs375965489 Benign
20306 P17813 (ENG) G R 603 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20307 P17813 (ENG) A D 604 - Disease: Telangiectas ia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
20308 P17813 (ENG) S L 615 rs148002300 Benign
20309 P17844 (DDX5) S A 480 rs1140409 Benign
20310 P17858 (PFKL) G A 81 - Benign
20311 P17858 (PFKL) R W 151 rs755851304 Benign
20312 P17858 (PFKL) D V 237 rs1057037 Benign
20313 P17900 (GM2A) A T 19 rs1048719 Benign
20314 P17900 (GM2A) I V 59 rs153477 Benign
20315 P17900 (GM2A) M V 69 rs153478 Benign
20316 P17900 (GM2A) C R 138 rs137852797 Disease: GM2-ganglios idosis AB (GM2GAB) [MIM:272750]
20317 P17900 (GM2A) R P 169 rs104893892 Disease: GM2-ganglios idosis AB (GM2GAB) [MIM:272750]
20318 P17927 (CR1) H R 1208 rs2274567 Benign
20319 P17927 (CR1) T I 1408 - Benign
20320 P17927 (CR1) T M 1408 rs3737002 Benign
20321 P17927 (CR1) N S 1540 rs17259045 Benign
20322 P17927 (CR1) K E 1590 rs17047660 Benign
20323 P17927 (CR1) R G 1601 rs17047661 Benign
20324 P17927 (CR1) S T 1610 rs4844609 Benign
20325 P17927 (CR1) I V 1615 rs6691117 Benign
20326 P17927 (CR1) P R 1827 rs3811381 Benign
20327 P17927 (CR1) H D 1850 - Benign
20328 P17927 (CR1) T A 1969 rs2296160 Benign
20329 P17931 (LGALS3) P H 64 rs4644 Benign
20330 P17931 (LGALS3) T P 98 rs4652 Benign
20331 P17931 (LGALS3) R K 183 rs10148371 Benign
20332 P17936 (IGFBP3) A G 32 rs2854746 Benign
20333 P17936 (IGFBP3) A T 56 rs34257987 Benign
20334 P17936 (IGFBP3) H P 158 rs9282734 Benign
20335 P17936 (IGFBP3) G S 234 rs35712717 Benign
20336 P17948 (FLT1) K T 60 rs56409818 Benign
20337 P17948 (FLT1) I L 128 rs35073261 Benign
20338 P17948 (FLT1) E K 144 rs55974987 Benign
20339 P17948 (FLT1) R Q 281 rs55687105 Benign
20340 P17948 (FLT1) M V 938 rs35549791 Benign
20341 P17948 (FLT1) E A 982 rs35832528 Benign
20342 P18031 (PTPN1) G S 381 rs16995304 Benign
20343 P18031 (PTPN1) P L 387 rs16995309 Benign
20344 P18054 (ALOX12) D H 134 rs114985038 Benign
20345 P18054 (ALOX12) E K 259 rs4987104 Benign
20346 P18054 (ALOX12) Q R 261 rs1126667 Benign
20347 P18054 (ALOX12) A T 298 - Benign
20348 P18054 (ALOX12) N S 322 rs434473 Benign
20349 P18054 (ALOX12) R H 430 rs11571342 Benign
20350 P18065 (IGFBP2) A D 137 rs9341096 Benign
20351 P18074 (ERCC2) G R 47 rs1360631927 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20352 P18074 (ERCC2) T A 76 - Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20353 P18074 (ERCC2) R H 112 rs121913020 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20354 P18074 (ERCC2) I M 199 rs1799791 Benign
20355 P18074 (ERCC2) H Y 201 rs1799792 Benign
20356 P18074 (ERCC2) D N 234 rs1340806384 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20357 P18074 (ERCC2) C Y 259 rs370454709 Disease: Trichothiody strophy 1, photosensiti ve (TTD1) [MIM:601675]
20358 P18074 (ERCC2) D N 312 rs1799793 Benign
20359 P18074 (ERCC2) L V 461 rs121913016 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20360 P18074 (ERCC2) L P 485 rs121913025 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20361 P18074 (ERCC2) R G 487 - Disease: Trichothiody strophy 1, photosensiti ve (TTD1) [MIM:601675]
20362 P18074 (ERCC2) R Q 511 rs772572683 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20363 P18074 (ERCC2) S R 541 rs121913019 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20364 P18074 (ERCC2) Y C 542 - Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20365 P18074 (ERCC2) R P 592 - Disease: Trichothiody strophy 1, photosensiti ve (TTD1) [MIM:601675]
20366 P18074 (ERCC2) A P 594 - Disease: Trichothiody strophy 1, photosensiti ve (TTD1) [MIM:601675]
20367 P18074 (ERCC2) R L 601 rs140522180 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20368 P18074 (ERCC2) R W 601 rs753641926 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20369 P18074 (ERCC2) G D 602 rs771824813 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20370 P18074 (ERCC2) R C 616 - Benign
20371 P18074 (ERCC2) R P 616 rs376556895 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20372 P18074 (ERCC2) R W 616 rs121913024 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20373 P18074 (ERCC2) R C 658 rs121913021 Disease: Trichothiody strophy 1, photosensiti ve (TTD1) [MIM:601675]
20374 P18074 (ERCC2) R G 658 - Disease: Trichothiody strophy 1, photosensiti ve (TTD1) [MIM:601675]
20375 P18074 (ERCC2) R H 658 rs762141272 Disease: Trichothiody strophy 1, photosensiti ve (TTD1) [MIM:601675]
20376 P18074 (ERCC2) C R 663 rs770367713 Disease: Trichothiody strophy 1, photosensiti ve (TTD1) [MIM:601675]
20377 P18074 (ERCC2) R W 666 rs752510317 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20378 P18074 (ERCC2) D G 673 - Disease: Trichothiody strophy 1, photosensiti ve (TTD1) [MIM:601675]
20379 P18074 (ERCC2) D N 681 rs121913023 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20380 P18074 (ERCC2) R Q 683 rs758439420 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20381 P18074 (ERCC2) R W 683 rs41556519 Disease: Xeroderma pigmentosum complementat ion group D (XP-D) [MIM:278730]
20382 P18074 (ERCC2) G R 713 rs121913022 Disease: Trichothiody strophy 1, photosensiti ve (TTD1) [MIM:601675]
20383 P18074 (ERCC2) R W 722 rs121913026 Disease: Trichothiody strophy 1, photosensiti ve (TTD1) [MIM:601675]
20384 P18074 (ERCC2) A P 725 rs121913018 Disease: Trichothiody strophy 1, photosensiti ve (TTD1) [MIM:601675]
20385 P18074 (ERCC2) K Q 751 rs13181 Benign
20386 P18075 (BMP7) L P 198 rs376798352 Benign
20387 P18075 (BMP7) N S 321 rs61733438 Benign
20388 P18077 (RPL35A) V I 33 rs116840808 Disease: Diamond- Blackfan anemia 5 (DBA5) [MIM:612528]
20389 P18084 (ITGB5) L V 428 rs2291090 Benign
20390 P18084 (ITGB5) R Q 431 rs2291089 Benign
20391 P18084 (ITGB5) N S 477 rs2291087 Benign
20392 P18085 (ARF4) V A 68 rs11550597 Benign
20393 P18089 (ADRA2B) G A 211 rs9333568 Benign
20394 P18089 (ADRA2B) V I 376 rs1431850417 Benign
20395 P18089 (ADRA2B) V G 379 rs527655811 Benign
20396 P18089 (ADRA2B) V I 379 rs29000569 Benign
20397 P18146 (EGR1) T I 28 rs13181973 Benign
20398 P18146 (EGR1) N K 144 rs28365166 Benign
20399 P18146 (EGR1) S R 145 rs28365164 Benign
20400 P18146 (EGR1) E D 219 rs28365165 Benign
20401 P18206 (VCL) V L 234 rs17853882 Benign
20402 P18206 (VCL) L M 277 rs71579353 Disease: Cardiomyopat hy, familial hypertrophic 15 (CMH15) [MIM:613255]
20403 P18206 (VCL) A V 934 rs16931179 Benign
20404 P18206 (VCL) P A 943 rs71579375 Benign
20405 P18206 (VCL) R W 975 rs121917776 Disease: Cardiomyopat hy, dilated 1W (CMD1W) [MIM:611407]
20406 P18283 (GPX2) P L 126 rs17881652 Benign
20407 P18283 (GPX2) R C 146 rs17880492 Benign
20408 P18283 (GPX2) I M 176 - Benign
20409 P18428 (LBP) P L 9 rs2232580 Benign
20410 P18428 (LBP) R Q 111 rs2232583 Benign
20411 P18428 (LBP) L I 125 rs2232585 Benign
20412 P18428 (LBP) E K 147 rs36015492 Benign
20413 P18428 (LBP) S C 157 rs2232586 Benign
20414 P18428 (LBP) V M 166 rs5744204 Benign
20415 P18428 (LBP) M I 242 rs2232601 Benign
20416 P18428 (LBP) D G 283 rs2232607 Benign
20417 P18428 (LBP) H R 294 rs2232608 Benign
20418 P18428 (LBP) P L 333 rs2232613 Benign
20419 P18428 (LBP) L F 339 rs5744212 Benign
20420 P18428 (LBP) I T 364 rs2232615 Benign
20421 P18428 (LBP) F L 436 rs2232618 Benign
20422 P18428 (LBP) A T 445 rs2232619 Benign
20423 P18433 (PTPRA) P L 109 rs1178027 Benign
20424 P18440 (NAT1) R W 64 rs56379106 Benign
20425 P18440 (NAT1) R T 117 rs55641436 Benign
20426 P18440 (NAT1) V I 149 rs4987076 Benign
20427 P18440 (NAT1) R Q 187 rs4986782 Benign
20428 P18440 (NAT1) M V 205 rs72554609 Benign
20429 P18440 (NAT1) T I 207 rs4987195 Benign
20430 P18440 (NAT1) S A 214 rs4986783 Benign
20431 P18440 (NAT1) D V 251 rs56172717 Benign
20432 P18440 (NAT1) E K 261 rs72554610 Benign
20433 P18440 (NAT1) I V 263 rs72554611 Benign
20434 P18505 (GABRB1) F S 246 rs886039817 Disease: Epileptic encephalopat hy, early infantile, 45 (EIEE45) [MIM:617153]
20435 P18505 (GABRB1) T I 287 rs886039818 Disease: Epileptic encephalopat hy, early infantile, 45 (EIEE45) [MIM:617153]
20436 P18505 (GABRB1) H Q 421 rs41311286 Benign
20437 P18505 (GABRB1) I N 429 rs17852014 Benign
20438 P18507 (GABRG2) N S 79 rs112894280 Benign
20439 P18507 (GABRG2) R Q 82 rs121909673 Disease: Febrile seizures, familial, 8 (FEB8) [MIM:611277]
20440 P18507 (GABRG2) A T 106 rs796052505 Disease: Epileptic encephalopat hy, early infantile, 74 (EIEE74) [MIM:618396]
20441 P18507 (GABRG2) I T 107 - Disease: Epileptic encephalopat hy, early infantile, 74 (EIEE74) [MIM:618396]
20442 P18507 (GABRG2) R G 177 rs267606837 Disease: Febrile seizures, familial, 8 (FEB8) [MIM:611277]
20443 P18507 (GABRG2) Y C 274 - Disease: -
20444 P18507 (GABRG2) P S 282 rs796052508 Disease: Epileptic encephalopat hy, early infantile, 74 (EIEE74) [MIM:618396]
20445 P18507 (GABRG2) R Q 323 rs397514737 Disease: Generalized epilepsy with febrile seizures plus 3 (GEFS+3) [MIM:611277]
20446 P18507 (GABRG2) R W 323 rs796052510 Disease: Epileptic encephalopat hy, early infantile, 74 (EIEE74) [MIM:618396]
20447 P18507 (GABRG2) K M 328 rs121909672 Disease: Generalized epilepsy with febrile seizures plus 3 (GEFS+3) [MIM:611277]
20448 P18507 (GABRG2) F L 343 rs796052511 Disease: Epileptic encephalopat hy, early infantile, 74 (EIEE74) [MIM:618396]
20449 P18507 (GABRG2) H R 357 rs17855003 Benign
20450 P18509 (ADCYAP1) D G 54 rs2856966 Benign
20451 P18510 (IL1RN) A T 124 rs45507693 Benign
20452 P18545 (PDE6G) P H 27 - Benign
20453 P18564 (ITGB6) A T 143 rs140015315 Disease: Amelogenesis imperfecta 1H (AI1H) [MIM:616221]
20454 P18564 (ITGB6) P T 196 rs730880298 Disease: Amelogenesis imperfecta 1H (AI1H) [MIM:616221]
20455 P18564 (ITGB6) H Q 275 rs730882118 Disease: Amelogenesis imperfecta 1H (AI1H) [MIM:616221]
20456 P18564 (ITGB6) P T 437 rs2305820 Benign
20457 P18577 (RHCE) W C 16 - Benign
20458 P18577 (RHCE) A T 36 rs145034271 Benign
20459 P18577 (RHCE) Q R 41 rs138268848 Benign
20460 P18577 (RHCE) L I 60 rs181860403 Benign
20461 P18577 (RHCE) N S 68 rs1053344 Benign
20462 P18577 (RHCE) P S 103 rs676785 Benign
20463 P18577 (RHCE) A V 127 rs1053346 Benign
20464 P18577 (RHCE) G D 128 rs1053347 Benign
20465 P18577 (RHCE) R T 154 - Benign
20466 P18577 (RHCE) T S 182 rs1053350 Benign
20467 P18577 (RHCE) N K 198 rs1053354 Benign
20468 P18577 (RHCE) P A 226 rs609320 Benign
20469 P18577 (RHCE) Q E 233 rs142246017 Benign
20470 P18577 (RHCE) M V 238 rs144163296 Benign
20471 P18577 (RHCE) L V 245 rs1053361 Benign
20472 P18577 (RHCE) R G 263 rs1132763 Benign
20473 P18577 (RHCE) M K 267 rs1132764 Benign
20474 P18577 (RHCE) H P 323 rs1053366 Benign
20475 P18577 (RHCE) I S 325 rs1053367 Benign
20476 P18577 (RHCE) H D 329 rs1053370 Benign
20477 P18577 (RHCE) H R 329 rs1053371 Benign
20478 P18577 (RHCE) S Y 330 rs1053372 Benign
20479 P18577 (RHCE) I N 331 rs1053373 Benign
20480 P18577 (RHCE) V E 398 rs630612 Benign
20481 P18583 (SON) P S 473 rs35622138 Benign
20482 P18583 (SON) T M 555 rs13049658 Benign
20483 P18583 (SON) T A 870 rs11908823 Benign
20484 P18583 (SON) S L 1202 rs13433428 Benign
20485 P18583 (SON) R C 1575 rs13047599 Benign
20486 P18627 (LAG3) I T 455 rs870849 Benign
20487 P18827 (SDC1) T M 76 rs2230922 Benign
20488 P18827 (SDC1) L Q 136 rs10205485 Benign
20489 P18846 (ATF1) P A 191 rs2230674 Benign
20490 P18847 (ATF3) T M 38 rs11571541 Benign
20491 P18848 (ATF4) Q P 22 rs4894 Benign
20492 P18848 (ATF4) P A 258 rs1803323 Benign
20493 P18848 (ATF4) E D 322 rs1803324 Benign
20494 P18850 (ATF6) M L 67 rs1058405 Benign
20495 P18850 (ATF6) M V 67 rs1058405 Benign
20496 P18850 (ATF6) A P 145 rs2070150 Benign
20497 P18850 (ATF6) P S 157 rs1135983 Benign
20498 P18850 (ATF6) R C 324 rs761357250 Disease: Achromatopsi a 7 (ACHM7) [MIM:616517]
20499 P18850 (ATF6) Y N 567 rs796065053 Disease: Achromatopsi a 7 (ACHM7) [MIM:616517]
20500 P18858 (LIG1) A V 24 rs3730855 Benign
20501 P18858 (LIG1) P L 52 rs4987181 Benign
20502 P18858 (LIG1) R W 62 rs3730863 Benign
20503 P18858 (LIG1) D G 72 rs4987070 Benign
20504 P18858 (LIG1) G E 249 rs3730911 Benign
20505 P18858 (LIG1) N S 267 rs3730933 Benign
20506 P18858 (LIG1) V M 349 rs3730947 Benign
20507 P18858 (LIG1) V I 369 rs3730966 Benign
20508 P18858 (LIG1) R H 409 rs4987068 Benign
20509 P18858 (LIG1) M V 480 rs3730980 Benign
20510 P18858 (LIG1) E K 566 rs121434560 Benign
20511 P18858 (LIG1) T I 614 rs3731003 Benign
20512 P18858 (LIG1) R L 677 rs3731008 Benign
20513 P18858 (LIG1) R W 771 rs121434561 Benign
20514 P18859 (ATP5PF) I T 39 - Benign
20515 P18887 (XRCC1) R L 7 rs2307186 Benign
20516 P18887 (XRCC1) V M 10 rs2307171 Benign
20517 P18887 (XRCC1) V A 72 rs25496 Benign
20518 P18887 (XRCC1) R H 107 rs2228487 Benign
20519 P18887 (XRCC1) E K 157 rs2307180 Benign
20520 P18887 (XRCC1) P L 161 rs2307191 Benign
20521 P18887 (XRCC1) R W 194 rs1799782 Benign
20522 P18887 (XRCC1) R H 280 rs25489 Benign
20523 P18887 (XRCC1) K N 298 rs2307188 Benign
20524 P18887 (XRCC1) T A 304 rs25490 Benign
20525 P18887 (XRCC1) P S 309 rs25491 Benign
20526 P18887 (XRCC1) R Q 399 rs25487 Benign
20527 P18887 (XRCC1) K N 431 rs761564262 Disease: Spinocerebel lar ataxia, autosomal recessive, 26 (SCAR26) [MIM:617633]
20528 P18887 (XRCC1) S Y 485 rs2307184 Benign
20529 P18887 (XRCC1) P L 514 rs25474 Benign
20530 P18887 (XRCC1) R Q 559 rs2307167 Benign
20531 P18887 (XRCC1) R W 560 rs2307166 Benign
20532 P18887 (XRCC1) N S 576 rs2307177 Benign
20533 P18887 (XRCC1) N Y 576 rs2682557 Benign
20534 P19012 (KRT15) T A 147 rs1050784 Benign
20535 P19012 (KRT15) K R 416 rs2305556 Benign
20536 P19012 (KRT15) A G 421 rs897420 Benign
20537 P19013 (KRT4) A V 72 rs2638525 Benign
20538 P19013 (KRT4) E K 435 - Disease: White sponge nevus 1 (WSN1) [MIM:193900]
20539 P19021 (PAM) V L 49 rs2230458 Benign
20540 P19022 (CDH2) A T 21 rs17495042 Benign
20541 P19022 (CDH2) A T 118 rs17445840 Benign
20542 P19022 (CDH2) S T 196 rs1041970 Benign
20543 P19022 (CDH2) I L 212 rs1041972 Benign
20544 P19022 (CDH2) T A 454 rs17857112 Benign
20545 P19022 (CDH2) N S 845 rs2289664 Benign
20546 P19075 (TSPAN8) V I 35 rs17849952 Benign
20547 P19075 (TSPAN8) G A 73 rs3763978 Benign
20548 P19075 (TSPAN8) S A 213 rs1051334 Benign
20549 P19087 (GNAT2) L I 107 rs3738766 Benign
20550 P19087 (GNAT2) V M 124 rs41280330 Benign
20551 P19087 (GNAT2) G D 183 rs1799940 Benign
20552 P19099 (CYP11B2) A T 29 rs6438 Benign
20553 P19099 (CYP11B2) R Q 30 rs6441 Benign
20554 P19099 (CYP11B2) K R 173 rs4539 Benign
20555 P19099 (CYP11B2) R W 181 rs28931609 Disease: Corticostero ne methyloxidas e 2 deficiency (CMO-2 deficiency) [MIM:610600]
20556 P19099 (CYP11B2) T I 185 rs121912978 Disease: Corticostero ne methyloxidas e 2 deficiency (CMO-2 deficiency) [MIM:610600]
20557 P19099 (CYP11B2) E D 198 rs104894072 Disease: Corticostero ne methyloxidas e 2 deficiency (CMO-2 deficiency) [MIM:610600]
20558 P19099 (CYP11B2) N T 222 rs5308 Benign
20559 P19099 (CYP11B2) I T 248 rs4547 Benign
20560 P19099 (CYP11B2) N S 281 rs4537 Benign
20561 P19099 (CYP11B2) I T 339 rs4544 Benign
20562 P19099 (CYP11B2) E V 383 rs5312 Benign
20563 P19099 (CYP11B2) V A 386 rs61757294 Disease: Corticostero ne methyloxidas e 2 deficiency (CMO-2 deficiency) [MIM:610600]
20564 P19099 (CYP11B2) V E 403 rs5315 Benign
20565 P19099 (CYP11B2) G S 435 rs4545 Benign
20566 P19099 (CYP11B2) L P 461 rs72554627 Disease: Corticostero ne methyloxidas e 1 deficiency (CMO-1 deficiency) [MIM:203400]
20567 P19099 (CYP11B2) F V 487 rs5317 Benign
20568 P19099 (CYP11B2) T A 498 rs72554626 Disease: Corticostero ne methyloxidas e 2 deficiency (CMO-2 deficiency) [MIM:610600]
20569 P19113 (HDC) T M 31 rs17740607 Benign
20570 P19113 (HDC) F L 553 rs16963486 Benign
20571 P19113 (HDC) E D 644 rs2073440 Benign
20572 P19174 (PLCG1) T N 209 rs2229348 Benign
20573 P19174 (PLCG1) S G 279 rs2228246 Benign
20574 P19174 (PLCG1) S T 739 rs34203315 Benign
20575 P19174 (PLCG1) I T 813 rs753381 Benign
20576 P19224 (UGT1A6) S A 7 rs6759892 Benign
20577 P19224 (UGT1A6) S Y 70 rs1042708 Benign
20578 P19224 (UGT1A6) T A 181 rs2070959 Benign
20579 P19224 (UGT1A6) R S 184 rs1105879 Benign
20580 P19224 (UGT1A6) A P 510 rs1042709 Benign
20581 P19235 (EPOR) P A 380 rs35423344 Benign
20582 P19235 (EPOR) N S 487 rs62638745 Disease: Erythroleuke mia
20583 P19235 (EPOR) P S 488 rs142094773 Benign
20584 P19237 (TNNI1) R W 67 rs2296695 Benign
20585 P19256 (CD58) S G 15 rs17426456 Benign
20586 P19320 (VCAM1) M I 18 rs34228330 Benign
20587 P19320 (VCAM1) S F 318 rs3783611 Benign
20588 P19320 (VCAM1) T A 384 rs3783612 Benign
20589 P19320 (VCAM1) G A 413 rs3783613 Benign
20590 P19320 (VCAM1) V I 421 rs34100871 Benign
20591 P19320 (VCAM1) H R 488 rs34199378 Benign
20592 P19320 (VCAM1) I L 716 rs3783615 Benign
20593 P19338 (NCL) P L 68 rs11542691 Benign
20594 P19338 (NCL) P L 122 rs11542687 Benign
20595 P19338 (NCL) A V 174 rs11542689 Benign
20596 P19367 (HK1) G E 414 - Disease: Neurodevelop mental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
20597 P19367 (HK1) K E 418 - Disease: Neurodevelop mental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
20598 P19367 (HK1) S L 445 - Disease: Neurodevelop mental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
20599 P19367 (HK1) T M 457 - Disease: Neurodevelop mental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]
20600 P19367 (HK1) L S 529 rs137853249 Disease: Hexokinase deficiency (HK deficiency) [MIM:235700]
20601 P19367 (HK1) T S 680 rs398122379 Disease: Hexokinase deficiency (HK deficiency) [MIM:235700]
20602 P19367 (HK1) L M 776 rs1054203 Benign
20603 P19388 (POLR2E) S F 44 rs12459404 Benign
20604 P19404 (NDUFV2) V A 29 rs906807 Benign
20605 P19419 (ELK1) G S 144 rs1997639 Benign
20606 P19419 (ELK1) S N 183 rs1059579 Benign
20607 P19429 (TNNI3) A V 2 rs397516359 Disease: Cardiomyopat hy, dilated 2A (CMD2A) [MIM:611880]
20608 P19429 (TNNI3) K Q 36 rs267607130 Disease: Cardiomyopat hy, dilated 1FF (CMD1FF) [MIM:613286]
20609 P19429 (TNNI3) R C 79 rs3729712 Benign
20610 P19429 (TNNI3) P S 82 rs77615401 Benign
20611 P19429 (TNNI3) A G 116 rs777177571 Disease: Cardiomyopat hy, dilated 1FF (CMD1FF) [MIM:613286]
20612 P19429 (TNNI3) R Q 141 rs397516347 Disease: Cardiomyopat hy, familial hypertrophic 7 (CMH7) [MIM:613690]
20613 P19429 (TNNI3) L Q 144 rs121917760 Disease: Cardiomyopat hy, familial restrictive 1 (RCM1) [MIM:115210]
20614 P19429 (TNNI3) R G 145 rs104894724 Disease: Cardiomyopat hy, familial hypertrophic 7 (CMH7) [MIM:613690]
20615 P19429 (TNNI3) R W 145 rs104894724 Disease: Cardiomyopat hy, familial restrictive 1 (RCM1) [MIM:115210]
20616 P19429 (TNNI3) A V 157 rs397516353 Disease: Cardiomyopat hy, familial hypertrophic 7 (CMH7) [MIM:613690]
20617 P19429 (TNNI3) R P 162 rs397516354 Disease: Cardiomyopat hy, familial hypertrophic 7 (CMH7) [MIM:613690]
20618 P19429 (TNNI3) R Q 162 rs397516354 Disease: Cardiomyopat hy, familial hypertrophic 7 (CMH7) [MIM:613690]
20619 P19429 (TNNI3) S F 166 rs727504242 Disease: Cardiomyopat hy, familial hypertrophic 7 (CMH7) [MIM:613690]
20620 P19429 (TNNI3) A T 171 rs121917761 Disease: Cardiomyopat hy, familial restrictive 1 (RCM1) [MIM:115210]
20621 P19429 (TNNI3) K E 178 rs104894730 Disease: Cardiomyopat hy, familial restrictive 1 (RCM1) [MIM:115210]
20622 P19429 (TNNI3) N K 185 rs267607129 Disease: Cardiomyopat hy, dilated 1FF (CMD1FF) [MIM:613286]
20623 P19429 (TNNI3) R Q 186 rs397516357 Disease: Cardiomyopat hy, familial hypertrophic 7 (CMH7) [MIM:613690]
20624 P19429 (TNNI3) D H 190 - Disease: Cardiomyopat hy, familial restrictive 1 (RCM1) [MIM:115210]
20625 P19429 (TNNI3) R H 192 rs104894729 Disease: Cardiomyopat hy, familial restrictive 1 (RCM1) [MIM:115210]
20626 P19429 (TNNI3) D N 196 rs104894727 Disease: Cardiomyopat hy, familial hypertrophic 7 (CMH7) [MIM:613690]
20627 P19429 (TNNI3) R H 204 rs727504275 Disease: Cardiomyopat hy, familial hypertrophic 7 (CMH7) [MIM:613690]
20628 P19429 (TNNI3) K Q 206 rs104894725 Disease: Cardiomyopat hy, familial hypertrophic 7 (CMH7) [MIM:613690]
20629 P19438 (TNFRSF1A) H Q 51 rs104895254 Disease: Familial hibernian fever (FHF) [MIM:142680]
20630 P19438 (TNFRSF1A) C R 59 rs104895217 Disease: Familial hibernian fever (FHF) [MIM:142680]
20631 P19438 (TNFRSF1A) C S 59 rs104895223 Disease: Familial hibernian fever (FHF) [MIM:142680]
20632 P19438 (TNFRSF1A) C G 62 rs104895225 Disease: Familial hibernian fever (FHF) [MIM:142680]
20633 P19438 (TNFRSF1A) C Y 62 rs104895218 Disease: Familial hibernian fever (FHF) [MIM:142680]
20634 P19438 (TNFRSF1A) P L 75 rs4149637 Disease: Familial hibernian fever (FHF) [MIM:142680]
20635 P19438 (TNFRSF1A) T M 79 rs104895219 Disease: Familial hibernian fever (FHF) [MIM:142680]
20636 P19438 (TNFRSF1A) C F 81 rs104895220 Disease: Familial hibernian fever (FHF) [MIM:142680]
20637 P19438 (TNFRSF1A) C S 99 rs104895228 Disease: Familial hibernian fever (FHF) [MIM:142680]
20638 P19438 (TNFRSF1A) S G 115 - Disease: Familial hibernian fever (FHF) [MIM:142680]
20639 P19438 (TNFRSF1A) C R 117 rs104895221 Disease: Familial hibernian fever (FHF) [MIM:142680]
20640 P19438 (TNFRSF1A) C Y 117 rs104895222 Disease: Familial hibernian fever (FHF) [MIM:142680]
20641 P19438 (TNFRSF1A) R P 121 rs4149584 Disease: Familial hibernian fever (FHF) [MIM:142680]
20642 P19438 (TNFRSF1A) P T 305 rs1804532 Benign
20643 P19440 (GGT1) S L 51 rs2330837 Benign
20644 P19440 (GGT1) K E 52 rs2330838 Benign
20645 P19440 (GGT1) A V 177 rs3895576 Benign
20646 P19440 (GGT1) V A 272 rs4049829 Benign
20647 P19440 (GGT1) N D 419 rs17004876 Benign
20648 P19440 (GGT1) V A 435 rs1062459 Benign
20649 P19447 (ERCC3) F S 99 rs121913045 Disease: Xeroderma pigmentosum complementat ion group B (XP-B) [MIM:610651]
20650 P19447 (ERCC3) K R 117 rs1805161 Benign
20651 P19447 (ERCC3) T P 119 rs121913046 Disease: Trichothiody strophy 2, photosensiti ve (TTD2) [MIM:616390]
20652 P19447 (ERCC3) G C 402 rs1805162 Benign
20653 P19447 (ERCC3) S L 704 rs4150521 Benign
20654 P19447 (ERCC3) S P 735 rs4150522 Benign
20655 P19474 (TRIM21) P A 52 rs1042302 Benign
20656 P19474 (TRIM21) Q K 88 rs58403334 Benign
20657 P19474 (TRIM21) G R 96 rs2975162 Benign
20658 P19474 (TRIM21) E K 231 rs2554934 Benign
20659 P19525 (EIF2AK2) V E 428 rs56219559 Benign
20660 P19525 (EIF2AK2) I V 506 rs34821155 Benign
20661 P19526 (FUT1) A V 12 rs2071699 Benign
20662 P19526 (FUT1) D Y 148 rs747442925 Benign
20663 P19526 (FUT1) Y H 154 rs757349699 Benign
20664 P19526 (FUT1) L H 164 rs104894687 Benign
20665 P19526 (FUT1) Y H 241 rs765114567 Benign
20666 P19526 (FUT1) L R 242 rs28934588 Benign
20667 P19526 (FUT1) E K 348 rs764739319 Benign
20668 P19526 (FUT1) W C 349 rs1438752561 Benign
20669 P19532 (TFE3) S C 96 rs5953258 Benign
20670 P19532 (TFE3) T A 313 rs3027470 Benign
20671 P19544 (WT1) P S 181 rs2234584 Disease: Wilms tumor 1 (WT1) [MIM:194070]
20672 P19544 (WT1) S N 223 - Disease: Wilms tumor 1 (WT1) [MIM:194070]
20673 P19544 (WT1) G A 253 - Disease: Wilms tumor 1 (WT1) [MIM:194070]
20674 P19544 (WT1) S G 273 rs121907908 Benign
20675 P19544 (WT1) R Q 312 - Disease: Nephrotic syndrome 4 (NPHS4) [MIM:256370]
20676 P19544 (WT1) C Y 330 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20677 P19544 (WT1) M R 342 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20678 P19544 (WT1) C G 355 - Disease: Wilms tumor 1 (WT1) [MIM:194070]
20679 P19544 (WT1) C Y 355 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20680 P19544 (WT1) C G 360 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20681 P19544 (WT1) C Y 360 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20682 P19544 (WT1) F L 364 - Disease: Nephrotic syndrome 4 (NPHS4) [MIM:256370]
20683 P19544 (WT1) R C 366 - Disease: Wilms tumor 1 (WT1) [MIM:194070]
20684 P19544 (WT1) R H 366 - Disease: Wilms tumor 1 (WT1) [MIM:194070]
20685 P19544 (WT1) R L 366 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20686 P19544 (WT1) Q P 369 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20687 P19544 (WT1) H Q 373 - Disease: Wilms tumor 1 (WT1) [MIM:194070]
20688 P19544 (WT1) H Y 373 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20689 P19544 (WT1) H R 377 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20690 P19544 (WT1) H Y 377 - Disease: Nephrotic syndrome 4 (NPHS4) [MIM:256370]
20691 P19544 (WT1) G C 379 - Disease: Nephrotic syndrome 4 (NPHS4) [MIM:256370]
20692 P19544 (WT1) F L 383 - Disease: Nephrotic syndrome 4 (NPHS4) [MIM:256370]
20693 P19544 (WT1) C R 385 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20694 P19544 (WT1) C F 388 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20695 P19544 (WT1) C R 388 - Disease: Nephrotic syndrome 4 (NPHS4) [MIM:256370]
20696 P19544 (WT1) C Y 388 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20697 P19544 (WT1) F L 392 - Disease: Frasier syndrome (FS) [MIM:136680]
20698 P19544 (WT1) R L 394 - Disease: Wilms tumor 1 (WT1) [MIM:194070]
20699 P19544 (WT1) R P 394 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20700 P19544 (WT1) R Q 394 - Disease: Nephrotic syndrome 4 (NPHS4) [MIM:256370]
20701 P19544 (WT1) R W 394 - Disease: Wilms tumor 1 (WT1) [MIM:194070]
20702 P19544 (WT1) D G 396 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20703 P19544 (WT1) D N 396 - Disease: Nephrotic syndrome 4 (NPHS4) [MIM:256370]
20704 P19544 (WT1) D Y 396 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20705 P19544 (WT1) H P 397 - Disease: Nephrotic syndrome 4 (NPHS4) [MIM:256370]
20706 P19544 (WT1) L P 398 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20707 P19544 (WT1) H Y 401 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20708 P19544 (WT1) H R 405 - Disease: Denys-Drash syndrome (DDS) [MIM:194080]
20709 P19622 (EN2) L F 121 rs3735653 Benign
20710 P19623 (SRM) L V 149 rs1049932 Benign
20711 P19634 (SLC9A1) G R 305 rs786204831 Disease: Lichtenstein -Knorr syndrome (LIKNS) [MIM:616291]
20712 P19634 (SLC9A1) N K 682 rs35703140 Benign
20713 P19652 (ORM2) R Q 38 rs147969317 Benign
20714 P19652 (ORM2) V A 99 rs2636889 Benign
20715 P19652 (ORM2) G R 141 rs12685968 Benign
20716 P19652 (ORM2) C R 167 rs1126777 Benign
20717 P19652 (ORM2) M V 174 rs2636890 Benign
20718 P19784 (CSNK2A2) E A 188 rs55911801 Benign
20719 P19793 (RXRA) P L 261 rs2234960 Benign
20720 P19793 (RXRA) A S 327 rs1805345 Benign
20721 P19793 (RXRA) S I 336 rs1805345 Benign
20722 P19793 (RXRA) A V 398 rs11542209 Benign
20723 P19801 (AOC1) T M 16 rs10156191 Benign
20724 P19801 (AOC1) S F 332 rs1049742 Benign
20725 P19801 (AOC1) M I 479 rs45558339 Benign
20726 P19801 (AOC1) H D 645 rs1049793 Benign
20727 P19801 (AOC1) N H 659 rs35070995 Benign
20728 P19823 (ITIH2) N S 263 rs7075296 Benign
20729 P19823 (ITIH2) L V 569 rs7084817 Benign
20730 P19823 (ITIH2) P A 674 rs3740217 Benign
20731 P19827 (ITIH1) S T 263 rs1042777 Benign
20732 P19827 (ITIH1) E V 585 rs678 Benign
20733 P19827 (ITIH1) Q R 595 rs1042779 Benign
20734 P19827 (ITIH1) G C 695 rs1042904 Benign
20735 P19827 (ITIH1) D E 844 rs1042849 Benign
20736 P19838 (NFKB1) T I 489 rs4648065 Benign
20737 P19838 (NFKB1) M V 506 rs4648072 Benign
20738 P19838 (NFKB1) T I 566 rs4648085 Benign
20739 P19838 (NFKB1) R K 578 rs4648086 Benign
20740 P19838 (NFKB1) H Q 711 rs4648099 Benign
20741 P19838 (NFKB1) A T 901 rs4648118 Benign
20742 P19876 (CXCL3) H R 3 rs352043 Benign
20743 P19878 (NCF2) N S 42 rs137854514 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 2, autosomal recessive (CGD2) [MIM:233710]
20744 P19878 (NCF2) G C 44 rs137854510 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 2, autosomal recessive (CGD2) [MIM:233710]
20745 P19878 (NCF2) G R 44 rs137854510 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 2, autosomal recessive (CGD2) [MIM:233710]
20746 P19878 (NCF2) R Q 77 rs119103275 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 2, autosomal recessive (CGD2) [MIM:233710]
20747 P19878 (NCF2) G E 78 rs137854519 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 2, autosomal recessive (CGD2) [MIM:233710]
20748 P19878 (NCF2) M V 79 rs137854512 Benign
20749 P19878 (NCF2) D E 93 rs137854507 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 2, autosomal recessive (CGD2) [MIM:233710]
20750 P19878 (NCF2) R P 102 rs137854515 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 2, autosomal recessive (CGD2) [MIM:233710]
20751 P19878 (NCF2) D V 108 rs137854509 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 2, autosomal recessive (CGD2) [MIM:233710]
20752 P19878 (NCF2) A V 128 rs119103274 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 2, autosomal recessive (CGD2) [MIM:233710]
20753 P19878 (NCF2) W R 137 rs137854516 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 2, autosomal recessive (CGD2) [MIM:233710]
20754 P19878 (NCF2) A D 140 rs137854520 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 2, autosomal recessive (CGD2) [MIM:233710]
20755 P19878 (NCF2) Q E 169 rs137854517 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 2, autosomal recessive (CGD2) [MIM:233710]
20756 P19878 (NCF2) K R 181 rs2274064 Benign
20757 P19878 (NCF2) R P 184 rs137854518 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 2, autosomal recessive (CGD2) [MIM:233710]
20758 P19878 (NCF2) A V 202 rs137854508 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 2, autosomal recessive (CGD2) [MIM:233710]
20759 P19878 (NCF2) T M 279 rs13306581 Benign
20760 P19878 (NCF2) V A 297 rs35937854 Benign
20761 P19878 (NCF2) R K 328 rs137854511 Benign
20762 P19878 (NCF2) G R 369 rs137854513 Benign
20763 P19878 (NCF2) H Q 389 rs17849502 Benign
20764 P19878 (NCF2) R W 395 rs13306575 Benign
20765 P19878 (NCF2) N I 419 rs35012521 Benign
20766 P19883 (FST) E Q 152 rs11745088 Benign
20767 P19957 (PI3) T M 17 rs17333103 Benign
20768 P19957 (PI3) T P 34 rs2664581 Benign
20769 P19971 (TYMP) R Q 44 rs28931613 Disease: Mitochondria l DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
20770 P19971 (TYMP) G R 145 rs121913037 Disease: Mitochondria l DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
20771 P19971 (TYMP) G S 153 rs121913038 Disease: Mitochondria l DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
20772 P19971 (TYMP) K R 222 rs149977726 Disease: Mitochondria l DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
20773 P19971 (TYMP) E A 289 rs121913036 Disease: Mitochondria l DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
20774 P19971 (TYMP) S L 471 rs11479 Benign
20775 P20020 (ATP2B1) M R 267 - Benign
20776 P20023 (CR2) S N 639 rs17615 Benign
20777 P20023 (CR2) I V 993 rs17618 Benign
20778 P20023 (CR2) A E 1003 rs17617 Benign
20779 P20036 (HLA-DPA1) A M 42 rs386699859 Benign
20780 P20036 (HLA-DPA1) A T 42 rs1126533 Benign
20781 P20036 (HLA-DPA1) A V 42 rs1126534 Benign
20782 P20036 (HLA-DPA1) P T 49 rs2308907 Benign
20783 P20036 (HLA-DPA1) M T 54 rs1042175 Benign
20784 P20036 (HLA-DPA1) E D 59 rs2308910 Benign
20785 P20036 (HLA-DPA1) M K 62 rs2308912 Benign
20786 P20036 (HLA-DPA1) M L 62 rs2308911 Benign
20787 P20036 (HLA-DPA1) M Q 62 rs36013091 Benign
20788 P20036 (HLA-DPA1) W C 74 rs72558171 Benign
20789 P20036 (HLA-DPA1) Q R 81 rs1042178 Benign
20790 P20036 (HLA-DPA1) A T 82 rs41543112 Benign
20791 P20036 (HLA-DPA1) L S 97 rs2308917 Benign
20792 P20036 (HLA-DPA1) N D 100 rs61759929 Benign
20793 P20036 (HLA-DPA1) T I 103 rs41559316 Benign
20794 P20036 (HLA-DPA1) L A 104 - Benign
20795 P20036 (HLA-DPA1) T A 114 rs1126542 Benign
20796 P20036 (HLA-DPA1) P A 127 rs41562016 Benign
20797 P20036 (HLA-DPA1) K R 142 rs1042190 Benign
20798 P20036 (HLA-DPA1) L P 158 rs2308930 Benign
20799 P20036 (HLA-DPA1) F V 191 rs1042308 Benign
20800 P20036 (HLA-DPA1) T A 221 rs17509489 Benign
20801 P20036 (HLA-DPA1) T P 259 rs1126769 Benign
20802 P20042 (EIF2S2) E D 177 rs17856024 Benign
20803 P20061 (TCN1) R H 35 rs34528912 Benign
20804 P20061 (TCN1) D Y 301 rs34324219 Benign
20805 P20062 (TCN2) I V 23 rs9606756 Benign
20806 P20062 (TCN2) F L 89 rs35915865 Benign
20807 P20062 (TCN2) M T 198 - Benign
20808 P20062 (TCN2) R W 215 rs35838082 Benign
20809 P20062 (TCN2) I L 219 - Benign
20810 P20062 (TCN2) R Q 227 rs17849434 Benign
20811 P20062 (TCN2) R P 259 rs1801198 Benign
20812 P20062 (TCN2) S F 348 rs9621049 Benign
20813 P20062 (TCN2) L S 376 rs1131603 Benign
20814 P20062 (TCN2) R Q 399 rs4820889 Benign
20815 P20073 (ANXA7) R Q 441 rs3750575 Benign
20816 P20138 (CD33) A V 14 rs12459419 Benign
20817 P20138 (CD33) W R 22 rs35814802 Benign
20818 P20138 (CD33) R G 69 rs2455069 Benign
20819 P20138 (CD33) S N 128 rs34919259 Benign
20820 P20138 (CD33) R W 202 rs4082929 Benign
20821 P20138 (CD33) I L 242 rs988337 Benign
20822 P20138 (CD33) F L 243 rs11882250 Benign
20823 P20138 (CD33) V I 267 rs58981829 Benign
20824 P20138 (CD33) V L 294 rs2271652 Benign
20825 P20138 (CD33) G R 304 rs35112940 Benign
20826 P20138 (CD33) T A 331 rs35632246 Benign
20827 P20151 (KLK2) V L 18 rs6072 Benign
20828 P20151 (KLK2) R W 250 rs198977 Benign
20829 P20151 (KLK2) D A 255 rs60268688 Benign
20830 P20248 (CCNA2) I V 163 rs769242 Benign
20831 P20264 (POU3F3) R L 362 - Disease: Snijders Blok-Fisher syndrome (SNIBFIS) [MIM:618604]
20832 P20264 (POU3F3) R G 407 - Disease: Snijders Blok-Fisher syndrome (SNIBFIS) [MIM:618604]
20833 P20264 (POU3F3) R L 407 - Disease: Snijders Blok-Fisher syndrome (SNIBFIS) [MIM:618604]
20834 P20264 (POU3F3) N S 456 - Disease: Snijders Blok-Fisher syndrome (SNIBFIS) [MIM:618604]
20835 P20273 (CD22) A T 34 rs201453271 Benign
20836 P20273 (CD22) Q E 152 rs554866571 Benign
20837 P20273 (CD22) E K 203 rs752024645 Benign
20838 P20273 (CD22) G R 551 rs35715143 Benign
20839 P20273 (CD22) Y H 639 rs1058407 Benign
20840 P20273 (CD22) S G 664 rs17719289 Benign
20841 P20273 (CD22) R C 669 rs749980313 Benign
20842 P20273 (CD22) G D 745 rs10406069 Benign
20843 P20309 (CHRM3) V I 65 rs2067481 Benign
20844 P20309 (CHRM3) L P 431 rs16839102 Benign
20845 P20333 (TNFRSF1B) V M 187 rs2228494 Benign
20846 P20333 (TNFRSF1B) M R 196 rs1061622 Benign
20847 P20333 (TNFRSF1B) E K 232 rs5746026 Benign
20848 P20333 (TNFRSF1B) A T 236 rs5746027 Benign
20849 P20333 (TNFRSF1B) L P 264 rs2229700 Benign
20850 P20333 (TNFRSF1B) T P 269 rs17879042 Benign
20851 P20333 (TNFRSF1B) Q R 295 rs5746032 Benign
20852 P20333 (TNFRSF1B) P R 301 rs17883432 Benign
20853 P20396 (TRH) L V 8 rs5658 Benign
20854 P20585 (MSH3) I V 79 rs1650697 Benign
20855 P20585 (MSH3) F L 709 rs1805354 Benign
20856 P20585 (MSH3) Y F 789 rs10067975 Benign
20857 P20585 (MSH3) Q R 949 rs184967 Benign
20858 P20585 (MSH3) A T 1045 rs26279 Benign
20859 P20585 (MSH3) T A 1054 rs1805131 Benign
20860 P20591 (MX1) V I 379 rs469390 Benign
20861 P20591 (MX1) A V 381 rs34717738 Benign
20862 P20591 (MX1) Q H 611 rs2230454 Benign
20863 P20594 (NPR2) P T 32 rs28931581 Disease: Acromesomeli c dysplasia, Maroteaux type (AMDM) [MIM:602875]
20864 P20594 (NPR2) S P 76 rs796065355 Disease: Short stature with non-specific skeletal abnormalitie s (SNSK) [MIM:616255]
20865 P20594 (NPR2) R C 110 rs758478717 Disease: Short stature with non-specific skeletal abnormalitie s (SNSK) [MIM:616255]
20866 P20594 (NPR2) W G 115 rs28931582 Disease: Acromesomeli c dysplasia, Maroteaux type (AMDM) [MIM:602875]
20867 P20594 (NPR2) D E 176 rs28929479 Disease: Acromesomeli c dysplasia, Maroteaux type (AMDM) [MIM:602875]
20868 P20594 (NPR2) V I 187 rs768423636 Benign
20869 P20594 (NPR2) M I 232 rs55747238 Benign
20870 P20594 (NPR2) R P 263 rs139036657 Disease: Short stature with non-specific skeletal abnormalitie s (SNSK) [MIM:616255]
20871 P20594 (NPR2) T M 297 rs1313765432 Disease: Acromesomeli c dysplasia, Maroteaux type (AMDM) [MIM:602875]
20872 P20594 (NPR2) Y C 338 - Disease: Acromesomeli c dysplasia, Maroteaux type (AMDM) [MIM:602875]
20873 P20594 (NPR2) A T 409 - Disease: Acromesomeli c dysplasia, Maroteaux type (AMDM) [MIM:602875]
20874 P20594 (NPR2) G E 413 - Disease: Acromesomeli c dysplasia, Maroteaux type (AMDM) [MIM:602875]
20875 P20594 (NPR2) Q E 417 rs796065356 Disease: Short stature with non-specific skeletal abnormalitie s (SNSK) [MIM:616255]
20876 P20594 (NPR2) A P 488 rs587777597 Disease: Epiphyseal chondrodyspl asia, Miura type (ECDM) [MIM:615923]
20877 P20594 (NPR2) R C 655 rs587777596 Disease: Epiphyseal chondrodyspl asia, Miura type (ECDM) [MIM:615923]
20878 P20594 (NPR2) L F 658 rs1314542724 Disease: Acromesomeli c dysplasia, Maroteaux type (AMDM) [MIM:602875]
20879 P20594 (NPR2) Y C 708 rs1305337032 Disease: Acromesomeli c dysplasia, Maroteaux type (AMDM) [MIM:602875]
20880 P20594 (NPR2) Q E 771 rs5816 Benign
20881 P20594 (NPR2) R W 776 rs1303913631 Disease: Acromesomeli c dysplasia, Maroteaux type (AMDM) [MIM:602875]
20882 P20594 (NPR2) R C 819 rs766256429 Disease: Short stature with non-specific skeletal abnormalitie s (SNSK) [MIM:616255]
20883 P20594 (NPR2) V I 882 rs55700371 Benign
20884 P20594 (NPR2) V M 882 - Disease: Epiphyseal chondrodyspl asia, Miura type (ECDM) [MIM:615923]
20885 P20594 (NPR2) R C 957 rs370158184 Disease: Acromesomeli c dysplasia, Maroteaux type (AMDM) [MIM:602875]
20886 P20594 (NPR2) G A 959 - Disease: Acromesomeli c dysplasia, Maroteaux type (AMDM) [MIM:602875]
20887 P20618 (PSMB1) P A 11 rs12717 Benign
20888 P20618 (PSMB1) I N 208 rs10541 Benign
20889 P20648 (ATP4A) V A 265 rs2733743 Benign
20890 P20674 (COX5A) R C 107 - Disease: -
20891 P20700 (LMNB1) A V 501 rs36105360 Benign
20892 P20701 (ITGAL) R H 144 rs34166708 Benign
20893 P20701 (ITGAL) R W 214 rs1064524 Benign
20894 P20701 (ITGAL) Q K 746 rs34838942 Benign
20895 P20701 (ITGAL) R T 791 rs2230433 Benign
20896 P20702 (ITGAX) W R 48 rs2230424 Benign
20897 P20702 (ITGAX) F L 201 rs1574566 Benign
20898 P20702 (ITGAX) A T 251 rs2230428 Benign
20899 P20702 (ITGAX) P R 517 rs2230429 Benign
20900 P20702 (ITGAX) E K 547 rs17853815 Benign
20901 P20702 (ITGAX) I V 564 rs189592567 Benign
20902 P20702 (ITGAX) F L 971 rs2230427 Benign
20903 P20702 (ITGAX) A V 1012 rs181404376 Benign
20904 P20711 (DDC) M V 17 rs6264 Benign
20905 P20711 (DDC) P H 47 rs780542462 Disease: Aromatic L-amino-acid decarboxylas e deficiency (AADCD) [MIM:608643]
20906 P20711 (DDC) E D 61 rs11575292 Benign
20907 P20711 (DDC) A V 91 rs137853211 Disease: Aromatic L-amino-acid decarboxylas e deficiency (AADCD) [MIM:608643]
20908 P20711 (DDC) G S 102 rs137853207 Disease: Aromatic L-amino-acid decarboxylas e deficiency (AADCD) [MIM:608643]
20909 P20711 (DDC) S R 147 rs137853210 Disease: Aromatic L-amino-acid decarboxylas e deficiency (AADCD) [MIM:608643]
20910 P20711 (DDC) P L 210 rs6262 Benign
20911 P20711 (DDC) M V 217 rs6263 Benign
20912 P20711 (DDC) M I 239 rs11575377 Benign
20913 P20711 (DDC) M L 239 rs11575376 Benign
20914 P20711 (DDC) S F 250 rs137853208 Disease: Aromatic L-amino-acid decarboxylas e deficiency (AADCD) [MIM:608643]
20915 P20711 (DDC) A T 275 rs137853212 Disease: Aromatic L-amino-acid decarboxylas e deficiency (AADCD) [MIM:608643]
20916 P20711 (DDC) F L 309 rs137853209 Disease: Aromatic L-amino-acid decarboxylas e deficiency (AADCD) [MIM:608643]
20917 P20711 (DDC) R Q 347 rs201951824 Disease: Aromatic L-amino-acid decarboxylas e deficiency (AADCD) [MIM:608643]
20918 P20711 (DDC) L I 408 - Disease: Aromatic L-amino-acid decarboxylas e deficiency (AADCD) [MIM:608643]
20919 P20711 (DDC) R Q 462 rs11575542 Benign
20920 P20718 (GZMH) R Q 84 rs20545 Benign
20921 P20742 (PZP) L V 379 rs12230214 Benign
20922 P20742 (PZP) V M 691 rs3213832 Benign
20923 P20742 (PZP) V A 813 rs2277413 Benign
20924 P20742 (PZP) N S 857 rs3213831 Benign
20925 P20742 (PZP) T M 1003 rs57006764 Benign
20926 P20742 (PZP) T P 1205 rs2377741 Benign
20927 P20742 (PZP) I N 1443 rs10842971 Benign
20928 P20783 (NTF3) G E 76 rs1805149 Benign
20929 P20794 (MAK) G S 13 rs387906647 Disease: Retinitis pigmentosa 62 (RP62) [MIM:614181]
20930 P20794 (MAK) G R 27 rs754916169 Disease: Retinitis pigmentosa 62 (RP62) [MIM:614181]
20931 P20794 (MAK) N H 130 rs387906646 Disease: Retinitis pigmentosa 62 (RP62) [MIM:614181]
20932 P20794 (MAK) R H 166 rs387906648 Disease: Retinitis pigmentosa 62 (RP62) [MIM:614181]
20933 P20794 (MAK) I T 181 rs750559316 Disease: Retinitis pigmentosa 62 (RP62) [MIM:614181]
20934 P20794 (MAK) I V 189 rs56215624 Benign
20935 P20794 (MAK) P L 325 rs371971492 Benign
20936 P20794 (MAK) D E 329 rs17579447 Benign
20937 P20794 (MAK) N S 384 rs55773478 Benign
20938 P20794 (MAK) P S 520 rs567083 Benign
20939 P20794 (MAK) F L 550 rs56217305 Benign
20940 P20800 (EDN2) F L 131 rs5798 Benign
20941 P20800 (EDN2) P L 168 rs11572371 Benign
20942 P20807 (CAPN3) V I 4 rs140660066 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20943 P20807 (CAPN3) G E 21 rs28364364 Benign
20944 P20807 (CAPN3) P L 26 rs762020512 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20945 P20807 (CAPN3) D N 77 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20946 P20807 (CAPN3) S F 86 rs121434546 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20947 P20807 (CAPN3) E K 107 rs1801505 Benign
20948 P20807 (CAPN3) R G 118 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20949 P20807 (CAPN3) C R 137 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20950 P20807 (CAPN3) A G 160 rs17592 Benign
20951 P20807 (CAPN3) I L 162 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20952 P20807 (CAPN3) L Q 182 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20953 P20807 (CAPN3) P L 183 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20954 P20807 (CAPN3) T M 184 rs35889956 Benign
20955 P20807 (CAPN3) L P 189 rs758795961 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20956 P20807 (CAPN3) G S 214 rs369784333 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20957 P20807 (CAPN3) S P 215 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20958 P20807 (CAPN3) E K 217 rs773001194 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20959 P20807 (CAPN3) G R 222 rs1345121557 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20960 P20807 (CAPN3) E K 226 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20961 P20807 (CAPN3) T I 232 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20962 P20807 (CAPN3) G E 234 rs1555420634 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20963 P20807 (CAPN3) A T 236 rs1801449 Benign
20964 P20807 (CAPN3) P L 319 rs121434547 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20965 P20807 (CAPN3) H Q 334 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20966 P20807 (CAPN3) Y N 336 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20967 P20807 (CAPN3) V G 354 rs1555421271 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20968 P20807 (CAPN3) W C 360 rs267606703 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20969 P20807 (CAPN3) R C 437 rs777483913 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20970 P20807 (CAPN3) R W 440 rs777323132 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20971 P20807 (CAPN3) G D 441 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20972 P20807 (CAPN3) G R 445 rs773827877 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20973 P20807 (CAPN3) R C 448 rs776043976 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20974 P20807 (CAPN3) R G 448 rs776043976 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20975 P20807 (CAPN3) R H 448 rs863224956 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20976 P20807 (CAPN3) S G 479 rs201736037 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20977 P20807 (CAPN3) Q E 486 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20978 P20807 (CAPN3) R Q 489 rs147764579 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20979 P20807 (CAPN3) R W 489 rs863224957 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20980 P20807 (CAPN3) R Q 490 rs121434548 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20981 P20807 (CAPN3) R W 490 rs141656719 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20982 P20807 (CAPN3) R W 493 rs557164942 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20983 P20807 (CAPN3) G R 496 rs761637940 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20984 P20807 (CAPN3) I T 502 rs148044781 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20985 P20807 (CAPN3) R Q 541 rs398123143 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20986 P20807 (CAPN3) G W 567 rs727503839 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20987 P20807 (CAPN3) R Q 572 rs121434544 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20988 P20807 (CAPN3) R W 572 rs863224959 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20989 P20807 (CAPN3) S L 606 rs199806879 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20990 P20807 (CAPN3) E A 622 rs11557723 Benign
20991 P20807 (CAPN3) Q P 638 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20992 P20807 (CAPN3) R P 698 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20993 P20807 (CAPN3) A V 702 rs886042557 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20994 P20807 (CAPN3) D G 705 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20995 P20807 (CAPN3) D H 705 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20996 P20807 (CAPN3) F S 731 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20997 P20807 (CAPN3) S G 744 rs750083132 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20998 P20807 (CAPN3) R Q 748 rs587780290 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
20999 P20807 (CAPN3) R Q 769 rs80338802 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]
21000 P20809 (IL11) V M 108 rs4252576 Benign
21001 P20809 (IL11) R H 112 rs4252548 Benign
21002 P20810 (CAST) E K 380 rs1643702 Benign
21003 P20810 (CAST) C S 408 rs754615 Benign
21004 P20810 (CAST) A V 537 rs4948 Benign
21005 P20810 (CAST) E G 592 - Benign
21006 P20813 (CYP2B6) Q L 21 rs34883432 Benign
21007 P20813 (CYP2B6) R C 22 rs8192709 Benign
21008 P20813 (CYP2B6) T S 26 rs33973337 Benign
21009 P20813 (CYP2B6) D G 28 rs33980385 Benign
21010 P20813 (CYP2B6) R P 29 rs34284776 Benign
21011 P20813 (CYP2B6) R S 29 rs33926104 Benign
21012 P20813 (CYP2B6) M V 46 rs35303484 Benign
21013 P20813 (CYP2B6) G E 99 rs36060847 Benign
21014 P20813 (CYP2B6) K E 139 rs12721655 Benign
21015 P20813 (CYP2B6) R Q 140 rs35773040 Benign
21016 P20813 (CYP2B6) P A 167 rs3826711 Benign
21017 P20813 (CYP2B6) Q H 172 rs3745274 Benign
21018 P20813 (CYP2B6) S R 259 rs45482602 Benign
21019 P20813 (CYP2B6) K R 262 rs2279343 Benign
21020 P20813 (CYP2B6) N K 289 rs34277950 Benign
21021 P20813 (CYP2B6) T S 306 rs34698757 Benign
21022 P20813 (CYP2B6) I T 328 rs28399499 Benign
21023 P20813 (CYP2B6) I N 391 rs35979566 Benign
21024 P20813 (CYP2B6) R C 487 rs3211371 Benign
21025 P20815 (CYP3A5) R C 28 rs55817950 Benign
21026 P20815 (CYP3A5) H Y 30 rs28383468 Benign
21027 P20815 (CYP3A5) Q R 200 rs56411402 Benign
21028 P20815 (CYP3A5) D E 277 rs28383477 Benign
21029 P20815 (CYP3A5) A T 337 rs28383479 Benign
21030 P20815 (CYP3A5) I V 371 rs28365092 Benign
21031 P20815 (CYP3A5) T N 398 rs28365083 Benign
21032 P20815 (CYP3A5) F S 446 rs41279854 Benign
21033 P20815 (CYP3A5) I T 488 rs28365085 Benign
21034 P20823 (HNF1A) L H 12 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21035 P20823 (HNF1A) G R 20 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21036 P20823 (HNF1A) I L 27 rs1169288 Benign
21037 P20823 (HNF1A) G D 31 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21038 P20823 (HNF1A) E K 48 - Disease: Diabetes mellitus, insulin- dependent, 20 (IDDM20) [MIM:612520]
21039 P20823 (HNF1A) A V 98 rs1800574 Benign
21040 P20823 (HNF1A) L R 107 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21041 P20823 (HNF1A) K E 117 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21042 P20823 (HNF1A) Y C 122 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21043 P20823 (HNF1A) I N 128 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21044 P20823 (HNF1A) P T 129 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21045 P20823 (HNF1A) R Q 131 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21046 P20823 (HNF1A) R W 131 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21047 P20823 (HNF1A) V M 133 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21048 P20823 (HNF1A) S F 142 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21049 P20823 (HNF1A) H Y 143 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21050 P20823 (HNF1A) K N 158 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21051 P20823 (HNF1A) R Q 159 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21052 P20823 (HNF1A) R W 159 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21053 P20823 (HNF1A) A T 161 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21054 P20823 (HNF1A) R W 200 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21055 P20823 (HNF1A) R C 203 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21056 P20823 (HNF1A) R H 203 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21057 P20823 (HNF1A) K Q 205 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21058 P20823 (HNF1A) R Q 229 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21059 P20823 (HNF1A) C G 241 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21060 P20823 (HNF1A) V D 259 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21061 P20823 (HNF1A) T M 260 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21062 P20823 (HNF1A) R C 263 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21063 P20823 (HNF1A) R G 271 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21064 P20823 (HNF1A) R W 271 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21065 P20823 (HNF1A) R H 272 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21066 P20823 (HNF1A) G R 415 - Disease: Diabetes mellitus, insulin- dependent, 20 (IDDM20) [MIM:612520]
21067 P20823 (HNF1A) S C 432 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21068 P20823 (HNF1A) P L 447 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21069 P20823 (HNF1A) S N 487 rs2464196 Benign
21070 P20823 (HNF1A) H R 514 - Benign
21071 P20823 (HNF1A) P L 519 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21072 P20823 (HNF1A) T R 537 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21073 P20823 (HNF1A) G S 574 rs1169305 Benign
21074 P20823 (HNF1A) R G 583 - Disease: Diabetes mellitus, insulin- dependent, 20 (IDDM20) [MIM:612520]
21075 P20823 (HNF1A) S I 594 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21076 P20823 (HNF1A) I M 618 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21077 P20823 (HNF1A) E K 619 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21078 P20823 (HNF1A) T I 620 - Disease: Maturity- onset diabetes of the young 3 (MODY3) [MIM:600496]
21079 P20827 (EFNA1) D V 159 rs4745 Benign
21080 P20839 (IMPDH1) R W 105 - Disease: Leber congenital amaurosis 11 (LCA11) [MIM:613837]
21081 P20839 (IMPDH1) T M 116 - Disease: Retinitis pigmentosa 10 (RP10) [MIM:180105]
21082 P20839 (IMPDH1) N K 198 - Disease: Leber congenital amaurosis 11 (LCA11) [MIM:613837]
21083 P20839 (IMPDH1) R P 224 - Disease: Retinitis pigmentosa 10 (RP10) [MIM:180105]
21084 P20839 (IMPDH1) D N 226 - Disease: Retinitis pigmentosa 10 (RP10) [MIM:180105]
21085 P20839 (IMPDH1) V I 268 - Disease: Retinitis pigmentosa 10 (RP10) [MIM:180105]
21086 P20839 (IMPDH1) A T 285 - Benign
21087 P20839 (IMPDH1) H P 372 - Disease: Retinitis pigmentosa 10 (RP10) [MIM:180105]
21088 P20849 (COL9A1) S P 339 rs592121 Benign
21089 P20849 (COL9A1) Q R 621 rs1135056 Benign
21090 P20849 (COL9A1) E K 684 rs35470562 Benign
21091 P20849 (COL9A1) M V 767 rs6910140 Benign
21092 P20849 (COL9A1) R K 870 rs1056921 Benign
21093 P20849 (COL9A1) V L 882 rs1056923 Benign
21094 P20851 (C4BPB) K Q 102 rs56258224 Benign
21095 P20851 (C4BPB) P S 198 rs1803226 Benign
21096 P20853 (CYP2A7) F I 61 rs10425176 Benign
21097 P20853 (CYP2A7) C R 64 rs10425169 Benign
21098 P20853 (CYP2A7) D E 169 rs4142867 Benign
21099 P20853 (CYP2A7) H R 274 rs4079366 Benign
21100 P20853 (CYP2A7) A G 301 rs2545754 Benign
21101 P20853 (CYP2A7) R C 311 rs3869579 Benign
21102 P20853 (CYP2A7) M T 368 rs2261144 Benign
21103 P20853 (CYP2A7) V G 479 rs12460590 Benign
21104 P20908 (COL5A1) L P 25 - Disease: Ehlers- Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]
21105 P20908 (COL5A1) L R 25 - Disease: Ehlers- Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]
21106 P20908 (COL5A1) A D 114 rs147589613 Benign
21107 P20908 (COL5A1) D N 192 rs138579182 Benign
21108 P20908 (COL5A1) G S 530 rs61735045 Disease: Ehlers- Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]
21109 P20908 (COL5A1) E V 863 rs139788610 Benign
21110 P20908 (COL5A1) P L 908 rs772211736 Benign
21111 P20908 (COL5A1) N S 951 rs61736966 Benign
21112 P20908 (COL5A1) V M 1140 rs149616140 Benign
21113 P20908 (COL5A1) G C 1486 - Disease: Ehlers- Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]
21114 P20908 (COL5A1) G D 1489 - Disease: Ehlers- Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]
21115 P20908 (COL5A1) C S 1639 rs80338764 Disease: Ehlers- Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]
21116 P20916 (MAG) S R 133 rs2301600 Disease: Spastic paraplegia 75, autosomal recessive (SPG75) [MIM:616680]
21117 P20916 (MAG) L M 202 rs11084810 Benign
21118 P20929 (NEB) T A 146 rs4077109 Benign
21119 P20929 (NEB) E Q 191 rs35686968 Benign
21120 P20929 (NEB) K N 1027 rs6735208 Benign
21121 P20929 (NEB) Y H 1301 rs6711382 Benign
21122 P20929 (NEB) E D 1469 rs34800215 Benign
21123 P20929 (NEB) V I 1479 rs34577613 Benign
21124 P20929 (NEB) V M 1491 rs7426114 Benign
21125 P20929 (NEB) Y H 1969 rs34532796 Benign
21126 P20929 (NEB) K N 2613 rs13013209 Benign
21127 P20929 (NEB) R Q 2773 rs35974308 Benign
21128 P20929 (NEB) S P 2912 rs6713162 Benign
21129 P20929 (NEB) V G 2952 rs13024542 Benign
21130 P20929 (NEB) W C 3360 rs10172023 Benign
21131 P20929 (NEB) S T 3887 rs35227368 Benign
21132 P20929 (NEB) P L 4271 rs4327235 Benign
21133 P20929 (NEB) N S 4337 rs16830236 Benign
21134 P20929 (NEB) R T 4401 rs2288210 Benign
21135 P20929 (NEB) D V 5030 rs2288200 Benign
21136 P20929 (NEB) R P 5463 rs16830171 Benign
21137 P20929 (NEB) G E 5934 rs3732309 Benign
21138 P20929 (NEB) T I 6131 rs34368668 Benign
21139 P20929 (NEB) I V 6546 rs1061305 Benign
21140 P20930 (FLG) G V 332 rs41267154 Benign
21141 P20930 (FLG) G R 444 rs11588170 Benign
21142 P20930 (FLG) T A 454 rs2011331 Benign
21143 P20930 (FLG) P S 478 rs11584340 Benign
21144 P20930 (FLG) T I 725 rs3120655 Benign
21145 P20930 (FLG) S Y 742 rs3120654 Benign
21146 P20930 (FLG) S L 1184 rs3120649 Benign
21147 P20930 (FLG) R G 1376 rs11581433 Benign
21148 P20930 (FLG) R C 1437 rs12750571 Benign
21149 P20930 (FLG) S Y 1482 rs11204978 Benign
21150 P20930 (FLG) R H 1684 rs12407807 Benign
21151 P20930 (FLG) R C 1699 rs12405278 Benign
21152 P20930 (FLG) S F 1750 rs3120647 Benign
21153 P20930 (FLG) A V 1805 rs12405241 Benign
21154 P20930 (FLG) H Q 1816 rs12073613 Benign
21155 P20930 (FLG) R Q 1891 rs12407748 Benign
21156 P20930 (FLG) H Q 1961 rs3126079 Benign
21157 P20930 (FLG) I T 2022 rs142592778 Benign
21158 P20930 (FLG) A V 2108 rs7522925 Benign
21159 P20930 (FLG) Y H 2119 rs7512553 Benign
21160 P20930 (FLG) Y H 2194 rs2184953 Benign
21161 P20930 (FLG) H Q 2507 rs3126074 Benign
21162 P20930 (FLG) R Q 2540 rs148050570 Benign
21163 P20930 (FLG) G R 2545 rs3126072 Benign
21164 P20930 (FLG) D Y 2781 rs759244716 Benign
21165 P20930 (FLG) Y D 3105 rs2065958 Benign
21166 P20930 (FLG) V G 3179 rs2065957 Benign
21167 P20930 (FLG) S F 3371 rs3120647 Benign
21168 P20930 (FLG) S P 3396 rs528344105 Benign
21169 P20930 (FLG) H Y 3415 rs7512553 Benign
21170 P20930 (FLG) S Y 3427 rs11204978 Benign
21171 P20930 (FLG) G A 3436 rs2065955 Benign
21172 P20930 (FLG) H Q 3437 rs12073613 Benign
21173 P20930 (FLG) R C 3490 rs113933537 Benign
21174 P20930 (FLG) W G 3503 rs12728908 Benign
21175 P20930 (FLG) Q R 3512 rs571269174 Benign
21176 P20930 (FLG) R H 3564 rs7518080 Benign
21177 P20930 (FLG) D N 3584 rs3814300 Benign
21178 P20930 (FLG) E D 3593 rs12083389 Benign
21179 P20930 (FLG) H Y 3630 rs9436065 Benign
21180 P20930 (FLG) S F 3695 rs3120647 Benign
21181 P20930 (FLG) T A 3696 rs537909579 Benign
21182 P20930 (FLG) S P 3720 rs11584340 Benign
21183 P20930 (FLG) H Y 3739 rs7512553 Benign
21184 P20930 (FLG) S Y 3751 rs776603551 Benign
21185 P20930 (FLG) G A 3760 rs768192328 Benign
21186 P20930 (FLG) H Q 3761 rs755367746 Benign
21187 P20930 (FLG) R C 3814 rs146212122 Benign
21188 P20930 (FLG) G W 3827 rs140464988 Benign
21189 P20930 (FLG) D N 3908 rs3814300 Benign
21190 P20930 (FLG) S P 3935 rs3126065 Benign
21191 P20930 (FLG) S L 3970 rs3814299 Benign
21192 P20933 (AGA) G D 60 rs121964907 Disease: Aspartylgluc osaminuria (AGU) [MIM:208400]
21193 P20933 (AGA) S P 72 rs121964909 Disease: Aspartylgluc osaminuria (AGU) [MIM:208400]
21194 P20933 (AGA) G E 100 rs386833421 Disease: Aspartylgluc osaminuria (AGU) [MIM:208400]
21195 P20933 (AGA) A V 101 rs121964908 Disease: Aspartylgluc osaminuria (AGU) [MIM:208400]
21196 P20933 (AGA) F S 135 rs386833427 Disease: Aspartylgluc osaminuria (AGU) [MIM:208400]
21197 P20933 (AGA) T S 149 rs2228119 Benign
21198 P20933 (AGA) R Q 161 rs192195150 Disease: Aspartylgluc osaminuria (AGU) [MIM:208400]
21199 P20933 (AGA) C S 163 rs121964904 Disease: Aspartylgluc osaminuria (AGU) [MIM:208400]
21200 P20933 (AGA) G E 252 rs386833433 Disease: Aspartylgluc osaminuria (AGU) [MIM:208400]
21201 P20933 (AGA) G R 252 rs386833432 Disease: Aspartylgluc osaminuria (AGU) [MIM:208400]
21202 P20933 (AGA) T I 257 rs386833434 Disease: Aspartylgluc osaminuria (AGU) [MIM:208400]
21203 P20933 (AGA) G R 302 rs121964905 Disease: Aspartylgluc osaminuria (AGU) [MIM:208400]
21204 P20933 (AGA) C R 306 rs121964906 Disease: Aspartylgluc osaminuria (AGU) [MIM:208400]
21205 P20933 (AGA) T I 322 rs56849061 Benign
21206 P20936 (RASA1) V D 530 - Disease: Capillary malformation -arterioveno us malformation 1 (CMAVM1) [MIM:608354]
21207 P20936 (RASA1) C Y 540 rs137853217 Disease: Capillary malformation -arterioveno us malformation 1 (CMAVM1) [MIM:608354]
21208 P20936 (RASA1) A E 626 - Disease: Capillary malformation -arterioveno us malformation 1 (CMAVM1) [MIM:608354]
21209 P21108 (PRPS1L1) E D 279 rs3800962 Benign
21210 P21127 (CDK11B) R C 57 rs752740049 Benign
21211 P21127 (CDK11B) R W 93 rs1059831 Benign
21212 P21127 (CDK11B) R C 109 rs1059830 Benign
21213 P21127 (CDK11B) R W 201 - Benign
21214 P21127 (CDK11B) S L 414 rs1241694892 Benign
21215 P21127 (CDK11B) V A 452 - Benign
21216 P21127 (CDK11B) I V 463 - Benign
21217 P21127 (CDK11B) G S 506 - Benign
21218 P21127 (CDK11B) L Q 601 rs200190129 Benign
21219 P21127 (CDK11B) K N 641 rs1059815 Benign
21220 P21127 (CDK11B) A V 670 rs1059811 Benign
21221 P21217 (FUT3) G S 5 rs28362458 Benign
21222 P21217 (FUT3) L R 20 rs28362459 Benign
21223 P21217 (FUT3) W R 68 rs812936 Benign
21224 P21217 (FUT3) Q K 102 rs59796499 Benign
21225 P21217 (FUT3) T M 105 rs778986 Benign
21226 P21217 (FUT3) S A 124 rs1175404919 Benign
21227 P21217 (FUT3) R C 160 rs28362462 Benign
21228 P21217 (FUT3) D N 162 rs28362463 Benign
21229 P21217 (FUT3) G S 170 rs3745635 Benign
21230 P21217 (FUT3) G R 223 rs28362466 Benign
21231 P21217 (FUT3) V M 270 rs28381968 Benign
21232 P21217 (FUT3) T M 325 rs28381969 Benign
21233 P21217 (FUT3) R Q 327 rs28381970 Benign
21234 P21217 (FUT3) D A 336 rs151218854 Benign
21235 P21217 (FUT3) I K 356 rs3894326 Benign
21236 P21266 (GSTM3) V I 224 rs7483 Benign
21237 P21281 (ATP6V1B2) R P 485 rs730882177 Disease: Zimmermann- Laband syndrome 2 (ZLS2) [MIM:616455]
21238 P21291 (CSRP1) K I 108 rs3738283 Benign
21239 P21333 (FLNA) A G 39 rs137853313 Disease: Periventricu lar nodular heterotopia 1 (PVNH1) [MIM:300049]
21240 P21333 (FLNA) E V 82 rs28935169 Disease: Periventricu lar nodular heterotopia 1 (PVNH1) [MIM:300049]
21241 P21333 (FLNA) M V 102 - Disease: Periventricu lar nodular heterotopia 1 (PVNH1) [MIM:300049]
21242 P21333 (FLNA) A V 128 rs137853315 Disease: Periventricu lar nodular heterotopia 1 (PVNH1) [MIM:300049]
21243 P21333 (FLNA) S F 149 - Disease: Periventricu lar nodular heterotopia 1 (PVNH1) [MIM:300049]
21244 P21333 (FLNA) Q P 170 rs863223628 Disease: Otopalatodig ital syndrome 2 (OPD2) [MIM:304120]
21245 P21333 (FLNA) L F 172 - Disease: Otopalatodig ital syndrome 1 (OPD1) [MIM:311300]
21246 P21333 (FLNA) R G 196 - Disease: Otopalatodig ital syndrome 2 (OPD2) [MIM:304120]
21247 P21333 (FLNA) R W 196 rs137853317 Disease: Otopalatodig ital syndrome 1 (OPD1) [MIM:311300]
21248 P21333 (FLNA) A S 200 - Disease: Otopalatodig ital syndrome 2 (OPD2) [MIM:304120]
21249 P21333 (FLNA) D Y 203 rs137853314 Disease: Otopalatodig ital syndrome 1 (OPD1) [MIM:311300]
21250 P21333 (FLNA) P L 207 rs28935469 Disease: Otopalatodig ital syndrome 1 (OPD1) [MIM:311300]
21251 P21333 (FLNA) C F 210 rs137853318 Disease: Otopalatodig ital syndrome 2 (OPD2) [MIM:304120]
21252 P21333 (FLNA) E K 254 rs28935470 Disease: Otopalatodig ital syndrome 2 (OPD2) [MIM:304120]
21253 P21333 (FLNA) A P 273 - Disease: Otopalatodig ital syndrome 2 (OPD2) [MIM:304120]
21254 P21333 (FLNA) G R 288 rs267606816 Disease: Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]
21255 P21333 (FLNA) V A 320 rs1064816 Benign
21256 P21333 (FLNA) F L 370 rs1064817 Benign
21257 P21333 (FLNA) T M 429 rs36051194 Benign
21258 P21333 (FLNA) V M 528 rs143873938 Benign
21259 P21333 (FLNA) V A 552 rs730319 Benign
21260 P21333 (FLNA) T K 555 rs782611953 Disease: Otopalatodig ital syndrome 2 (OPD2) [MIM:304120]
21261 P21333 (FLNA) P Q 637 rs267606815 Disease: Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]
21262 P21333 (FLNA) L F 656 rs137853311 Disease: Periventricu lar nodular heterotopia 1 (PVNH1) [MIM:300049]
21263 P21333 (FLNA) V D 711 rs267606817 Disease: Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]
21264 P21333 (FLNA) S L 1012 rs17091204 Benign
21265 P21333 (FLNA) D A 1159 rs28935471 Disease: Frontometaph yseal dysplasia 1 (FMD1) [MIM:305620]
21266 P21333 (FLNA) D E 1184 rs80338837 Disease: Melnick- Needles syndrome (MNS) [MIM:309350]
21267 P21333 (FLNA) S L 1186 rs137853312 Disease: Frontometaph yseal dysplasia 1 (FMD1) [MIM:305620]
21268 P21333 (FLNA) A T 1188 rs28935472 Disease: Melnick- Needles syndrome (MNS) [MIM:309350]
21269 P21333 (FLNA) S L 1199 rs28935473 Disease: Melnick- Needles syndrome (MNS) [MIM:309350]
21270 P21333 (FLNA) P L 1291 rs137853319 Disease: FG syndrome 2 (FGS2) [MIM:300321]
21271 P21333 (FLNA) A G 1419 rs35504556 Benign
21272 P21333 (FLNA) C F 1645 - Disease: Otopalatodig ital syndrome 2 (OPD2) [MIM:304120]
21273 P21333 (FLNA) G C 1728 rs137853316 Disease: Frontometaph yseal dysplasia 1 (FMD1) [MIM:305620]
21274 P21333 (FLNA) A T 1764 rs57108893 Benign
21275 P21333 (FLNA) E K 1803 rs368750879 Disease: -
21276 P21359 (NF1) H R 31 rs199474725 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21277 P21359 (NF1) Y C 80 rs4795581 Benign
21278 P21359 (NF1) Y S 80 rs4795581 Benign
21279 P21359 (NF1) S F 82 rs199474729 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21280 P21359 (NF1) C W 93 - Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21281 P21359 (NF1) C Y 93 rs199474728 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21282 P21359 (NF1) I S 117 rs199474731 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21283 P21359 (NF1) L P 145 rs199474734 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21284 P21359 (NF1) I N 157 rs199474744 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21285 P21359 (NF1) R T 160 rs199474752 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21286 P21359 (NF1) D E 176 rs112306990 Benign
21287 P21359 (NF1) D V 186 - Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21288 P21359 (NF1) L R 194 rs199474753 Disease: Neurofibroma tosis-Noonan syndrome (NFNS) [MIM:601321]
21289 P21359 (NF1) L P 216 rs199474756 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21290 P21359 (NF1) C R 324 rs199474735 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21291 P21359 (NF1) A T 330 rs199474767 Benign
21292 P21359 (NF1) E V 337 rs199474736 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21293 P21359 (NF1) D G 338 rs199474773 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21294 P21359 (NF1) L P 357 rs137854563 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21295 P21359 (NF1) H D 393 rs199474768 Benign
21296 P21359 (NF1) H L 393 rs199474769 Benign
21297 P21359 (NF1) Y C 489 rs137854557 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21298 P21359 (NF1) Y C 491 rs199474757 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21299 P21359 (NF1) L P 508 rs137854558 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21300 P21359 (NF1) Q P 519 rs199474770 Benign
21301 P21359 (NF1) L P 532 rs199474737 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21302 P21359 (NF1) L P 549 rs199474758 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21303 P21359 (NF1) S R 574 - Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21304 P21359 (NF1) L R 578 rs199474774 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21305 P21359 (NF1) I T 581 rs199474759 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21306 P21359 (NF1) K R 583 rs199474760 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21307 P21359 (NF1) L V 604 rs142712751 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21308 P21359 (NF1) G R 629 rs199474738 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21309 P21359 (NF1) P L 678 rs17881753 Benign
21310 P21359 (NF1) L P 695 rs199474761 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21311 P21359 (NF1) L P 763 rs199474762 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21312 P21359 (NF1) A T 776 rs199474771 Benign
21313 P21359 (NF1) W S 777 rs199474745 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21314 P21359 (NF1) T K 780 rs199474746 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21315 P21359 (NF1) H P 781 rs199474763 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21316 P21359 (NF1) W C 784 rs199474778 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21317 P21359 (NF1) W R 784 rs199474730 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21318 P21359 (NF1) L F 844 rs199474785 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21319 P21359 (NF1) L P 844 rs137854566 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21320 P21359 (NF1) L R 844 rs137854566 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21321 P21359 (NF1) L P 847 rs199474747 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21322 P21359 (NF1) G E 848 rs199474748 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21323 P21359 (NF1) R C 873 rs199474739 Benign
21324 P21359 (NF1) L P 898 rs199474786 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21325 P21359 (NF1) L P 920 rs199474775 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21326 P21359 (NF1) M R 968 rs199474749 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21327 P21359 (NF1) M R 1035 rs137854553 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21328 P21359 (NF1) W R 1048 - Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21329 P21359 (NF1) M V 1073 rs199474740 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21330 P21359 (NF1) L P 1147 rs199474779 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21331 P21359 (NF1) N S 1156 rs199474764 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21332 P21359 (NF1) G D 1166 rs199474787 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21333 P21359 (NF1) Q R 1189 rs752039618 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21334 P21359 (NF1) F C 1193 rs199474780 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21335 P21359 (NF1) L R 1196 rs199474741 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21336 P21359 (NF1) R G 1204 rs199474732 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21337 P21359 (NF1) R W 1204 rs199474732 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21338 P21359 (NF1) L P 1243 rs137854564 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21339 P21359 (NF1) R P 1250 rs199474765 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21340 P21359 (NF1) R G 1276 rs199474742 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21341 P21359 (NF1) R P 1276 rs137854556 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21342 P21359 (NF1) R Q 1276 rs137854556 Disease: Mismatch repair deficient cancer cells
21343 P21359 (NF1) L F 1411 rs199474789 Disease: Neurofibroma tosis-Noonan syndrome (NFNS) [MIM:601321]
21344 P21359 (NF1) R S 1412 rs137854554 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21345 P21359 (NF1) Y H 1422 rs17884349 Benign
21346 P21359 (NF1) K E 1430 - Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21347 P21359 (NF1) K Q 1440 rs199474790 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21348 P21359 (NF1) K R 1440 rs199474788 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21349 P21359 (NF1) K E 1444 rs137854550 Disease: Neurofibroma tosis-Noonan syndrome (NFNS) [MIM:601321]
21350 P21359 (NF1) K N 1444 rs199474750 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21351 P21359 (NF1) K R 1444 rs199474781 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21352 P21359 (NF1) L P 1446 rs199474733 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21353 P21359 (NF1) N T 1451 rs199474754 Disease: Neurofibroma tosis-Noonan syndrome (NFNS) [MIM:601321]
21354 P21359 (NF1) V L 1453 rs199474755 Disease: Neurofibroma tosis-Noonan syndrome (NFNS) [MIM:601321]
21355 P21359 (NF1) S F 1484 rs199474772 Benign
21356 P21359 (NF1) S G 1489 rs199474743 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21357 P21359 (NF1) I V 1605 rs199474766 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21358 P21359 (NF1) R W 1611 rs1060500316 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21359 P21359 (NF1) A S 1785 rs199474782 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21360 P21359 (NF1) W R 1952 rs199474791 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21361 P21359 (NF1) L P 1953 rs199474792 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21362 P21359 (NF1) G R 2001 rs199474751 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21363 P21359 (NF1) D N 2012 rs199474783 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21364 P21359 (NF1) L P 2088 rs137854561 Disease: Familial spinal neurofibroma tosis (FSNF) [MIM:162210]
21365 P21359 (NF1) L P 2125 - Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21366 P21359 (NF1) L M 2164 rs137854551 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21367 P21359 (NF1) Y N 2192 rs267606598 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21368 P21359 (NF1) P A 2221 rs199474776 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21369 P21359 (NF1) E K 2357 rs199474784 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21370 P21359 (NF1) T I 2507 rs149055633 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21371 P21359 (NF1) V L 2511 rs2230850 Benign
21372 P21359 (NF1) T A 2631 rs199474793 Disease: Neurofibroma tosis 1 (NF1) [MIM:162200]
21373 P21397 (MAOA) E K 188 rs77698881 Benign
21374 P21397 (MAOA) C F 266 rs587777457 Disease: -
21375 P21397 (MAOA) F V 314 rs1799835 Benign
21376 P21397 (MAOA) K R 520 rs1800466 Benign
21377 P21399 (ACO1) T M 318 rs150373174 Benign
21378 P21399 (ACO1) A D 395 rs3814519 Benign
21379 P21399 (ACO1) G R 486 rs34630459 Benign
21380 P21439 (ABCB4) T M 34 rs142794414 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21381 P21439 (ABCB4) R G 47 - Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21382 P21439 (ABCB4) G R 68 rs1343667900 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21383 P21439 (ABCB4) G R 70 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21384 P21439 (ABCB4) L H 71 rs780641693 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21385 P21439 (ABCB4) L V 73 rs8187788 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21386 P21439 (ABCB4) F C 78 rs1411970557 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21387 P21439 (ABCB4) D E 87 - Benign
21388 P21439 (ABCB4) P S 95 rs377268767 Benign
21389 P21439 (ABCB4) S F 99 rs1408217402 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21390 P21439 (ABCB4) G S 124 - Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21391 P21439 (ABCB4) G E 126 rs1021988376 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21392 P21439 (ABCB4) W R 138 rs72552781 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21393 P21439 (ABCB4) R K 150 rs757693457 Disease: Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
21394 P21439 (ABCB4) F S 154 - Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21395 P21439 (ABCB4) F I 165 - Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21396 P21439 (ABCB4) T M 201 rs753318087 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21397 P21439 (ABCB4) L V 238 rs45596335 Benign
21398 P21439 (ABCB4) A P 250 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21399 P21439 (ABCB4) I V 263 rs45547936 Benign
21400 P21439 (ABCB4) A V 286 rs765478923 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21401 P21439 (ABCB4) M T 301 rs72552779 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21402 P21439 (ABCB4) S I 346 rs67876345 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21403 P21439 (ABCB4) F L 357 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21404 P21439 (ABCB4) A V 364 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21405 P21439 (ABCB4) I V 367 rs1168923653 Benign
21406 P21439 (ABCB4) E G 395 rs72552777 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21407 P21439 (ABCB4) Y H 403 rs121918443 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21408 P21439 (ABCB4) R G 406 - Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21409 P21439 (ABCB4) T A 424 rs1263565476 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21410 P21439 (ABCB4) V M 425 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21411 P21439 (ABCB4) E G 450 rs1189003716 Benign
21412 P21439 (ABCB4) D H 459 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21413 P21439 (ABCB4) V A 475 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21414 P21439 (ABCB4) P L 479 rs748657435 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21415 P21439 (ABCB4) L R 481 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21416 P21439 (ABCB4) N S 510 rs375315619 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21417 P21439 (ABCB4) A T 511 rs1257887155 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21418 P21439 (ABCB4) E K 513 - Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21419 P21439 (ABCB4) G D 535 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21420 P21439 (ABCB4) G R 536 - Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21421 P21439 (ABCB4) I F 541 rs66904256 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21422 P21439 (ABCB4) R H 545 - Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21423 P21439 (ABCB4) A D 546 rs121918441 Disease: Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
21424 P21439 (ABCB4) R H 549 rs761238221 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21425 P21439 (ABCB4) L R 556 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21426 P21439 (ABCB4) E K 558 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21427 P21439 (ABCB4) D G 564 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21428 P21439 (ABCB4) H T 589 - Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21429 P21439 (ABCB4) L Q 591 rs72552776 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21430 P21439 (ABCB4) T A 593 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21431 P21439 (ABCB4) T M 593 rs571555115 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21432 P21439 (ABCB4) M V 630 rs372476723 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21433 P21439 (ABCB4) E K 647 rs972726699 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21434 P21439 (ABCB4) T N 651 rs45476795 Benign
21435 P21439 (ABCB4) R G 652 rs2230028 Benign
21436 P21439 (ABCB4) L P 701 rs988987669 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21437 P21439 (ABCB4) F S 711 rs72552773 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21438 P21439 (ABCB4) T I 715 rs138773456 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21439 P21439 (ABCB4) G E 723 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21440 P21439 (ABCB4) P L 726 rs141677867 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21441 P21439 (ABCB4) P T 726 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21442 P21439 (ABCB4) S L 729 rs970324585 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21443 P21439 (ABCB4) A V 737 rs147134978 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21444 P21439 (ABCB4) G S 742 - Benign
21445 P21439 (ABCB4) G E 762 - Disease: Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
21446 P21439 (ABCB4) R Q 788 rs8187801 Benign
21447 P21439 (ABCB4) A D 840 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21448 P21439 (ABCB4) G S 954 rs779829759 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21449 P21439 (ABCB4) L V 975 rs759787957 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21450 P21439 (ABCB4) S P 978 rs1051861187 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21451 P21439 (ABCB4) G S 983 rs56187107 Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21452 P21439 (ABCB4) L Q 1082 rs1214110864 Benign
21453 P21439 (ABCB4) R W 1084 rs1262922848 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21454 P21439 (ABCB4) E K 1125 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21455 P21439 (ABCB4) P S 1168 rs121918442 Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21456 P21439 (ABCB4) S L 1183 - Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21457 P21439 (ABCB4) G S 1185 - Disease: Gallbladder disease 1 (GBD1) [MIM:600803]
21458 P21439 (ABCB4) A T 1193 - Disease: Cholestasis, progressive familial intrahepatic , 3 (PFIC3) [MIM:602347]
21459 P21452 (TACR2) I T 23 rs5030920 Benign
21460 P21452 (TACR2) A T 47 rs57500981 Benign
21461 P21452 (TACR2) M K 245 rs55953810 Benign
21462 P21452 (TACR2) T A 363 rs57900755 Benign
21463 P21452 (TACR2) R H 375 rs2229170 Benign
21464 P21452 (TACR2) H R 395 rs58692969 Benign
21465 P21453 (S1PR1) S L 15 rs4987250 Benign
21466 P21453 (S1PR1) A T 115 rs11542632 Benign
21467 P21453 (S1PR1) P R 332 rs7549921 Benign
21468 P21462 (FPR1) I T 11 rs5030878 Benign
21469 P21462 (FPR1) V L 101 rs2070745 Benign
21470 P21462 (FPR1) R W 190 rs5030880 Benign
21471 P21462 (FPR1) N K 192 rs1042229 Benign
21472 P21462 (FPR1) E A 346 rs867228 Benign
21473 P21506 (ZNF10) Q R 227 rs11147259 Benign
21474 P21549 (AGXT) T N 9 rs115014558 Benign
21475 P21549 (AGXT) P L 11 rs34116584 Benign
21476 P21549 (AGXT) N S 22 rs34885252 Benign
21477 P21549 (AGXT) R C 36 rs180177157 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21478 P21549 (AGXT) G E 41 rs180177168 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21479 P21549 (AGXT) G R 41 rs121908523 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21480 P21549 (AGXT) G V 41 rs180177168 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21481 P21549 (AGXT) G R 47 rs180177173 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21482 P21549 (AGXT) G E 82 rs121908522 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21483 P21549 (AGXT) G R 82 rs180177185 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21484 P21549 (AGXT) W R 108 rs180177197 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21485 P21549 (AGXT) A D 112 rs796052061 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21486 P21549 (AGXT) G R 116 rs180177207 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21487 P21549 (AGXT) L P 150 rs180177222 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21488 P21549 (AGXT) F I 152 rs121908524 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21489 P21549 (AGXT) L V 153 rs180177223 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21490 P21549 (AGXT) G R 156 rs121908530 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21491 P21549 (AGXT) S L 158 rs180177225 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21492 P21549 (AGXT) G C 161 rs180177227 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21493 P21549 (AGXT) G R 161 rs180177227 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21494 P21549 (AGXT) G S 161 rs180177227 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21495 P21549 (AGXT) L P 166 rs180177230 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21496 P21549 (AGXT) G R 170 rs121908529 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21497 P21549 (AGXT) C Y 173 rs180177231 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21498 P21549 (AGXT) D N 183 rs180177236 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21499 P21549 (AGXT) S F 187 rs180177238 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21500 P21549 (AGXT) G R 190 rs180177239 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21501 P21549 (AGXT) M R 195 rs180177244 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21502 P21549 (AGXT) D E 201 rs180177246 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21503 P21549 (AGXT) S P 205 rs121908520 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21504 P21549 (AGXT) S L 218 rs180177253 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21505 P21549 (AGXT) R C 233 rs121908526 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21506 P21549 (AGXT) R H 233 rs121908527 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21507 P21549 (AGXT) R L 233 rs121908527 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21508 P21549 (AGXT) D H 243 rs180177258 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21509 P21549 (AGXT) I T 244 rs121908525 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21510 P21549 (AGXT) C R 253 rs180177264 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21511 P21549 (AGXT) I T 279 rs140992177 Benign
21512 P21549 (AGXT) I M 279 rs180177277 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21513 P21549 (AGXT) A V 280 rs73106685 Benign
21514 P21549 (AGXT) S T 287 rs180177289 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21515 P21549 (AGXT) R C 289 rs180177290 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21516 P21549 (AGXT) A T 295 rs13408961 Benign
21517 P21549 (AGXT) L P 298 rs180177293 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21518 P21549 (AGXT) V I 326 rs115057148 Benign
21519 P21549 (AGXT) V D 336 rs180177155 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21520 P21549 (AGXT) I M 340 rs4426527 Benign
21521 P21549 (AGXT) G D 350 rs180177156 Disease: Hyperoxaluri a primary 1 (HP1) [MIM:259900]
21522 P21579 (SYT1) M K 303 - Disease: Baker-Gordon syndrome (BAGOS) [MIM:618218]
21523 P21579 (SYT1) D G 304 - Disease: Baker-Gordon syndrome (BAGOS) [MIM:618218]
21524 P21579 (SYT1) D E 366 - Disease: Baker-Gordon syndrome (BAGOS) [MIM:618218]
21525 P21579 (SYT1) I T 368 rs1135402761 Disease: Baker-Gordon syndrome (BAGOS) [MIM:618218]
21526 P21579 (SYT1) N K 371 - Disease: Baker-Gordon syndrome (BAGOS) [MIM:618218]
21527 P21580 (TNFAIP3) A V 125 rs5029941 Benign
21528 P21580 (TNFAIP3) F C 127 rs2230926 Benign
21529 P21580 (TNFAIP3) C Y 243 - Disease: Autoinflamma tory syndrome, familial, Behcet-like (AISBL) [MIM:616744]
21530 P21580 (TNFAIP3) A P 766 rs5029957 Benign
21531 P21583 (KITLG) N S 36 rs121918653 Disease: Hyperpigment ation with or without hypopigmenta tion, familial progressive (FPHH) [MIM:145250]
21532 P21583 (KITLG) T A 54 rs3741457 Benign
21533 P21583 (KITLG) D Y 210 rs41283112 Benign
21534 P21583 (KITLG) F Y 232 rs12721563 Benign
21535 P21589 (NT5E) C Y 358 rs387906620 Disease: Calcificatio n of joints and arteries (CALJA) [MIM:211800]
21536 P21589 (NT5E) T A 376 rs2229523 Benign
21537 P21589 (NT5E) M T 379 rs2229524 Benign
21538 P21675 (TAF1) L V 269 rs28382158 Benign
21539 P21675 (TAF1) A G 297 rs35317750 Benign
21540 P21675 (TAF1) P S 575 rs864321630 Disease: Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966]
21541 P21675 (TAF1) C R 786 rs864321628 Disease: Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966]
21542 P21675 (TAF1) D H 955 rs864321631 Disease: Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966]
21543 P21675 (TAF1) R W 1225 rs864321629 Disease: Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966]
21544 P21675 (TAF1) I T 1316 rs864321627 Disease: Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966]
21545 P21675 (TAF1) V I 1383 rs7050748 Benign
21546 P21695 (GPD1) I V 54 rs2232202 Benign
21547 P21695 (GPD1) A P 113 rs1128867 Benign
21548 P21695 (GPD1) E K 124 rs34783513 Benign
21549 P21695 (GPD1) V A 197 rs2232207 Benign
21550 P21695 (GPD1) T I 223 rs200251017 Benign
21551 P21695 (GPD1) R P 229 rs199673455 Disease: Hypertriglyc eridemia, transient infantile (HTGTI) [MIM:614480]
21552 P21709 (EPHA1) V A 160 rs4725617 Benign
21553 P21709 (EPHA1) R C 351 rs56006153 Benign
21554 P21709 (EPHA1) R Q 492 rs11768549 Benign
21555 P21709 (EPHA1) R Q 575 rs35719334 Benign
21556 P21709 (EPHA1) A T 585 rs34178823 Benign
21557 P21709 (EPHA1) P L 697 rs34372369 Benign
21558 P21709 (EPHA1) S R 807 rs56244405 Benign
21559 P21709 (EPHA1) M V 900 rs6967117 Benign
21560 P21728 (DRD1) T P 37 rs5327 Benign
21561 P21728 (DRD1) T R 37 rs879844008 Benign
21562 P21728 (DRD1) R S 50 rs5330 Benign
21563 P21728 (DRD1) K R 81 - Benign
21564 P21728 (DRD1) S A 199 rs5331 Benign
21565 P21728 (DRD1) S Y 259 rs74414188 Benign
21566 P21730 (C5AR1) D N 2 rs4467185 Benign
21567 P21730 (C5AR1) K N 279 rs11880097 Benign
21568 P21731 (TBXA2R) R L 60 rs34377097 Disease: Bleeding disorder, platelet- type 13 (BDPLT13) [MIM:614009]
21569 P21731 (TBXA2R) C S 68 rs5743 Benign
21570 P21731 (TBXA2R) V E 80 rs5744 Benign
21571 P21731 (TBXA2R) E V 94 rs5746 Benign
21572 P21731 (TBXA2R) A T 160 rs5749 Benign
21573 P21731 (TBXA2R) V E 176 rs5750 Benign
21574 P21731 (TBXA2R) V I 217 rs5751 Benign
21575 P21754 (ZP3) G R 31 rs2286428 Benign
21576 P21754 (ZP3) A T 134 rs1554625334 Disease: Oocyte maturation defect 3 (OOMD3) [MIM:617712]
21577 P21754 (ZP3) S P 315 rs2906999 Benign
21578 P21754 (ZP3) M V 340 rs2906997 Benign
21579 P21757 (MSR1) F C 23 rs35175081 Benign
21580 P21757 (MSR1) P A 36 rs749666450 Benign
21581 P21757 (MSR1) S Y 41 rs145597376 Benign
21582 P21757 (MSR1) V A 113 rs117359034 Benign
21583 P21757 (MSR1) D Y 174 rs72552387 Benign
21584 P21757 (MSR1) L V 254 rs387906645 Benign
21585 P21757 (MSR1) T I 269 rs13306543 Benign
21586 P21757 (MSR1) P A 275 rs2229388 Benign
21587 P21757 (MSR1) G S 369 rs776370129 Benign
21588 P21757 (MSR1) H R 441 rs138749399 Benign
21589 P21781 (FGF7) M T 59 rs34531231 Benign
21590 P21781 (FGF7) G E 62 rs17850705 Benign
21591 P21802 (FGFR2) R P 6 rs3750819 Benign
21592 P21802 (FGFR2) S L 57 rs56226109 Benign
21593 P21802 (FGFR2) Y C 105 rs1434545235 Disease: Crouzon syndrome (CS) [MIM:123500]
21594 P21802 (FGFR2) A F 172 - Disease: Pfeiffer syndrome (PS) [MIM:101600]
21595 P21802 (FGFR2) M T 186 rs755793 Benign
21596 P21802 (FGFR2) S L 252 rs79184941 Benign
21597 P21802 (FGFR2) S F 252 rs121918498 Disease: Apert syndrome (APRS) [MIM:101200]
21598 P21802 (FGFR2) S W 252 rs79184941 Disease: Pfeiffer syndrome (PS) [MIM:101600]
21599 P21802 (FGFR2) P R 253 rs77543610 Disease: Apert syndrome (APRS) [MIM:101200]
21600 P21802 (FGFR2) P L 263 rs779326224 Disease: Crouzon syndrome (CS) [MIM:123500]
21601 P21802 (FGFR2) S P 267 rs121918505 Disease: Crouzon syndrome (CS) [MIM:123500]
21602 P21802 (FGFR2) F V 276 rs1057519036 Disease: Crouzon syndrome (CS) [MIM:123500]
21603 P21802 (FGFR2) C F 278 rs776587763 Disease: Pfeiffer syndrome (PS) [MIM:101600]
21604 P21802 (FGFR2) C Y 278 rs776587763 Disease: Crouzon syndrome (CS) [MIM:123500]
21605 P21802 (FGFR2) Y C 281 rs1057519038 Disease: Crouzon syndrome (CS) [MIM:123500]
21606 P21802 (FGFR2) I S 288 - Disease: Crouzon syndrome (CS) [MIM:123500]
21607 P21802 (FGFR2) Q P 289 rs121918497 Disease: Jackson- Weiss syndrome (JWS) [MIM:123150]
21608 P21802 (FGFR2) W C 290 rs121918499 Disease: Pfeiffer syndrome (PS) [MIM:101600]
21609 P21802 (FGFR2) W G 290 rs121918501 Disease: Crouzon syndrome (CS) [MIM:123500]
21610 P21802 (FGFR2) W R 290 rs121918501 Disease: Crouzon syndrome (CS) [MIM:123500]
21611 P21802 (FGFR2) K E 292 rs121918500 Disease: Crouzon syndrome (CS) [MIM:123500]
21612 P21802 (FGFR2) Y C 301 rs1554930684 Disease: Crouzon syndrome (CS) [MIM:123500]
21613 P21802 (FGFR2) A S 315 rs121918504 Benign
21614 P21802 (FGFR2) D A 321 rs121918510 Disease: Pfeiffer syndrome (PS) [MIM:101600]
21615 P21802 (FGFR2) Y C 328 rs121918493 Disease: Crouzon syndrome (CS) [MIM:123500]
21616 P21802 (FGFR2) N I 331 - Disease: Crouzon syndrome (CS) [MIM:123500]
21617 P21802 (FGFR2) A P 337 rs387906676 Disease: Crouzon syndrome (CS) [MIM:123500]
21618 P21802 (FGFR2) G E 338 rs1057519044 Disease: Crouzon syndrome (CS) [MIM:123500]
21619 P21802 (FGFR2) G R 338 rs1057519043 Disease: Crouzon syndrome (CS) [MIM:123500]
21620 P21802 (FGFR2) Y C 340 rs1554928884 Disease: Pfeiffer syndrome (PS) [MIM:101600]
21621 P21802 (FGFR2) Y H 340 rs121918489 Disease: Crouzon syndrome (CS) [MIM:123500]
21622 P21802 (FGFR2) T P 341 rs121918495 Disease: Pfeiffer syndrome (PS) [MIM:101600]
21623 P21802 (FGFR2) C F 342 rs121918487 Disease: Crouzon syndrome (CS) [MIM:123500]
21624 P21802 (FGFR2) C G 342 rs121918488 Disease: Pfeiffer syndrome (PS) [MIM:101600]
21625 P21802 (FGFR2) C R 342 rs121918488 Disease: Pfeiffer syndrome (PS) [MIM:101600]
21626 P21802 (FGFR2) C S 342 rs121918488 Disease: Pfeiffer syndrome (PS) [MIM:101600]
21627 P21802 (FGFR2) C W 342 rs121918496 Disease: Crouzon syndrome (CS) [MIM:123500]
21628 P21802 (FGFR2) C Y 342 rs121918487 Disease: Pfeiffer syndrome (PS) [MIM:101600]
21629 P21802 (FGFR2) A G 344 rs121918492 Disease: Jackson- Weiss syndrome (JWS) [MIM:123150]
21630 P21802 (FGFR2) A P 344 - Disease: Pfeiffer syndrome (PS) [MIM:101600]
21631 P21802 (FGFR2) S C 347 rs121918494 Disease: Crouzon syndrome (CS) [MIM:123500]
21632 P21802 (FGFR2) S C 351 rs121918502 Disease: Pfeiffer syndrome (PS) [MIM:101600]
21633 P21802 (FGFR2) S C 354 rs121918490 Disease: Crouzon syndrome (CS) [MIM:123500]
21634 P21802 (FGFR2) S Y 354 - Disease: Crouzon syndrome (CS) [MIM:123500]
21635 P21802 (FGFR2) V F 359 - Disease: Pfeiffer syndrome (PS) [MIM:101600]
21636 P21802 (FGFR2) A S 362 - Disease: Crouzon syndrome (CS) [MIM:123500]
21637 P21802 (FGFR2) S C 372 rs121913477 Disease: Beare- Stevenson cutis gyrata syndrome (BSTVS) [MIM:123790]
21638 P21802 (FGFR2) Y C 375 rs121913478 Disease: Pfeiffer syndrome (PS) [MIM:101600]
21639 P21802 (FGFR2) Y D 381 rs387906678 Disease: Bent bone dysplasia syndrome (BBDS) [MIM:614592]
21640 P21802 (FGFR2) G R 384 rs1554927408 Disease: Crouzon syndrome (CS) [MIM:123500]
21641 P21802 (FGFR2) M R 391 rs387906677 Disease: Bent bone dysplasia syndrome (BBDS) [MIM:614592]
21642 P21802 (FGFR2) K E 526 rs121918507 Disease: Familial scaphocephal y syndrome (FSPC) [MIM:609579]
21643 P21802 (FGFR2) N H 549 rs1057519045 Disease: Crouzon syndrome (CS) [MIM:123500]
21644 P21802 (FGFR2) E G 565 rs121918506 Disease: Pfeiffer syndrome (PS) [MIM:101600]
21645 P21802 (FGFR2) G R 613 - Benign
21646 P21802 (FGFR2) A T 628 rs121918509 Disease: Lacrimo- auriculo- dento- digital syndrome (LADDS) [MIM:149730]
21647 P21802 (FGFR2) K R 641 rs1057519047 Disease: Pfeiffer syndrome (PS) [MIM:101600]
21648 P21802 (FGFR2) A T 648 rs121918508 Disease: Lacrimo- auriculo- dento- digital syndrome (LADDS) [MIM:149730]
21649 P21802 (FGFR2) G E 663 - Disease: Pfeiffer syndrome (PS) [MIM:101600]
21650 P21802 (FGFR2) R G 678 - Disease: Crouzon syndrome (CS) [MIM:123500]
21651 P21810 (BGN) K E 147 rs879255604 Disease: Spondyloepim etaphyseal dysplasia, X-linked (SEMDX) [MIM:300106]
21652 P21810 (BGN) G V 259 rs879255605 Disease: Spondyloepim etaphyseal dysplasia, X-linked (SEMDX) [MIM:300106]
21653 P21815 (IBSP) G E 195 rs1054627 Benign
21654 P21815 (IBSP) D G 213 rs13144371 Benign
21655 P21815 (IBSP) R G 219 rs17013181 Benign
21656 P21815 (IBSP) T A 256 rs17013182 Benign
21657 P21815 (IBSP) A V 268 rs1054628 Benign
21658 P21815 (IBSP) E D 270 rs1054629 Benign
21659 P21817 (RYR1) L R 13 rs193922744 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21660 P21817 (RYR1) L V 13 - Disease: Central core disease of muscle (CCD) [MIM:117000]
21661 P21817 (RYR1) C R 35 rs193922747 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21662 P21817 (RYR1) R C 44 rs193922748 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21663 P21817 (RYR1) R W 109 rs118192173 Disease: Multiminicor e disease with external ophthalmople gia (MMDO) [MIM:255320]
21664 P21817 (RYR1) E G 160 rs193922752 Disease: Central core disease of muscle (CCD) [MIM:117000]
21665 P21817 (RYR1) R C 163 rs118192161 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21666 P21817 (RYR1) R L 163 rs193922753 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21667 P21817 (RYR1) G R 165 rs193922754 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21668 P21817 (RYR1) D N 166 rs193922755 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21669 P21817 (RYR1) R C 177 rs193922757 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21670 P21817 (RYR1) Y C 178 - Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21671 P21817 (RYR1) G E 215 rs118192115 Disease: Central core disease of muscle (CCD) [MIM:117000]
21672 P21817 (RYR1) M K 226 rs112596687 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21673 P21817 (RYR1) D V 227 rs193922760 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21674 P21817 (RYR1) A T 291 rs2229140 Benign
21675 P21817 (RYR1) R W 328 rs193922762 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21676 P21817 (RYR1) G R 341 rs121918592 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21677 P21817 (RYR1) R L 367 rs113332073 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21678 P21817 (RYR1) H N 382 - Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21679 P21817 (RYR1) R C 401 rs193922764 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21680 P21817 (RYR1) R H 401 rs193922766 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21681 P21817 (RYR1) R S 401 - Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21682 P21817 (RYR1) M T 402 rs118192117 Disease: Multiminicor e disease with external ophthalmople gia (MMDO) [MIM:255320]
21683 P21817 (RYR1) I M 403 rs118192116 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21684 P21817 (RYR1) R C 471 rs1376393998 Benign
21685 P21817 (RYR1) M V 485 rs147723844 Benign
21686 P21817 (RYR1) Y S 522 rs118192162 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21687 P21817 (RYR1) R H 530 rs111888148 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21688 P21817 (RYR1) R C 533 rs193922768 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21689 P21817 (RYR1) R H 533 rs144336148 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21690 P21817 (RYR1) D Y 544 rs113812662 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21691 P21817 (RYR1) R W 552 rs193922770 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21692 P21817 (RYR1) R C 614 rs118192172 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21693 P21817 (RYR1) R L 614 rs193922772 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21694 P21817 (RYR1) G R 705 rs565825739 Disease: -
21695 P21817 (RYR1) N K 899 rs201401814 Benign
21696 P21817 (RYR1) V M 974 rs748676912 Benign
21697 P21817 (RYR1) R C 1043 rs111272095 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21698 P21817 (RYR1) D H 1056 - Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21699 P21817 (RYR1) D N 1056 - Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21700 P21817 (RYR1) E K 1058 - Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21701 P21817 (RYR1) Y C 1088 - Disease: -
21702 P21817 (RYR1) R K 1109 rs35719391 Benign
21703 P21817 (RYR1) R L 1109 - Benign
21704 P21817 (RYR1) R H 1127 rs545579559 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21705 P21817 (RYR1) S G 1342 rs34694816 Benign
21706 P21817 (RYR1) A G 1352 rs112105381 Benign
21707 P21817 (RYR1) K R 1467 rs145573319 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21708 P21817 (RYR1) S N 1489 rs34404839 Benign
21709 P21817 (RYR1) I V 1571 rs146429605 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21710 P21817 (RYR1) R H 1679 rs146504767 Benign
21711 P21817 (RYR1) G S 1704 rs193922779 Disease: Central core disease of muscle (CCD) [MIM:117000]
21712 P21817 (RYR1) P L 1787 rs34934920 Benign
21713 P21817 (RYR1) G A 1832 rs193922784 Benign
21714 P21817 (RYR1) K Q 2013 - Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21715 P21817 (RYR1) H L 2035 rs367543056 Disease: Multiminicor e disease with external ophthalmople gia (MMDO) [MIM:255320]
21716 P21817 (RYR1) G C 2060 rs35364374 Benign
21717 P21817 (RYR1) M K 2101 rs746818096 Benign
21718 P21817 (RYR1) V L 2117 rs193922788 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21719 P21817 (RYR1) D E 2129 rs117886618 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21720 P21817 (RYR1) R C 2163 rs118192175 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21721 P21817 (RYR1) R H 2163 rs118192163 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21722 P21817 (RYR1) R P 2163 rs118192163 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21723 P21817 (RYR1) V M 2168 rs118192176 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21724 P21817 (RYR1) H Q 2204 rs141646642 Disease: Central core disease of muscle (CCD) [MIM:117000]
21725 P21817 (RYR1) T M 2206 rs118192177 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21726 P21817 (RYR1) T R 2206 rs118192177 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21727 P21817 (RYR1) V I 2214 rs193922795 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21728 P21817 (RYR1) R C 2248 rs763352221 Benign
21729 P21817 (RYR1) V I 2280 rs193922797 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21730 P21817 (RYR1) I V 2321 rs34390345 Benign
21731 P21817 (RYR1) R H 2336 rs112563513 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21732 P21817 (RYR1) N S 2342 rs147213895 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21733 P21817 (RYR1) V M 2346 rs193922799 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21734 P21817 (RYR1) E G 2348 rs193922801 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21735 P21817 (RYR1) A T 2350 rs193922802 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21736 P21817 (RYR1) R C 2355 - Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21737 P21817 (RYR1) A T 2367 rs146306934 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21738 P21817 (RYR1) G A 2375 rs193922807 Benign
21739 P21817 (RYR1) D G 2400 rs976108591 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21740 P21817 (RYR1) E K 2404 rs111364296 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21741 P21817 (RYR1) A P 2421 rs193922808 Disease: Central core disease of muscle (CCD) [MIM:117000]
21742 P21817 (RYR1) M K 2423 rs118192174 Disease: Multiminicor e disease with external ophthalmople gia (MMDO) [MIM:255320]
21743 P21817 (RYR1) A T 2428 rs193922809 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21744 P21817 (RYR1) D N 2431 rs193922810 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21745 P21817 (RYR1) G R 2434 rs121918593 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21746 P21817 (RYR1) R H 2435 rs28933396 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21747 P21817 (RYR1) R L 2435 rs28933396 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21748 P21817 (RYR1) A V 2437 rs193922812 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21749 P21817 (RYR1) R W 2452 rs118192124 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21750 P21817 (RYR1) R C 2454 rs193922816 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21751 P21817 (RYR1) R H 2454 rs118192122 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21752 P21817 (RYR1) R C 2458 rs28933397 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21753 P21817 (RYR1) R H 2458 rs121918594 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21754 P21817 (RYR1) R C 2508 rs118192178 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21755 P21817 (RYR1) R G 2508 rs118192178 Disease: Central core disease of muscle (CCD) [MIM:117000]
21756 P21817 (RYR1) R H 2508 rs193922818 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21757 P21817 (RYR1) V I 2509 rs2071088 Benign
21758 P21817 (RYR1) L V 2550 rs193922821 Benign
21759 P21817 (RYR1) R G 2593 rs756685891 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21760 P21817 (RYR1) V M 2627 - Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21761 P21817 (RYR1) R W 2676 rs193922826 Benign
21762 P21817 (RYR1) D G 2730 rs112196644 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21763 P21817 (RYR1) E K 2779 rs2915952 Benign
21764 P21817 (RYR1) T S 2787 rs35180584 Benign
21765 P21817 (RYR1) E K 2880 rs112772310 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21766 P21817 (RYR1) L P 2963 rs756870293 Disease: Central core disease of muscle (CCD) [MIM:117000]
21767 P21817 (RYR1) H Y 2976 - Benign
21768 P21817 (RYR1) A V 3118 rs2915960 Benign
21769 P21817 (RYR1) S P 3217 rs113422327 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21770 P21817 (RYR1) E K 3290 rs112151058 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21771 P21817 (RYR1) N K 3326 rs367543057 Disease: Multiminicor e disease with external ophthalmople gia (MMDO) [MIM:255320]
21772 P21817 (RYR1) P Q 3360 - Benign
21773 P21817 (RYR1) R H 3366 rs137932199 Disease: Central core disease of muscle (CCD) [MIM:117000]
21774 P21817 (RYR1) C G 3402 rs367543058 Disease: Multiminicor e disease with external ophthalmople gia (MMDO) [MIM:255320]
21775 P21817 (RYR1) P Q 3410 - Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21776 P21817 (RYR1) D Y 3501 rs763259167 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21777 P21817 (RYR1) P S 3527 rs118192164 Disease: Central core disease of muscle (CCD) [MIM:117000]
21778 P21817 (RYR1) R H 3539 rs143987857 Disease: Central core disease of muscle (CCD) [MIM:117000]
21779 P21817 (RYR1) E Q 3583 rs55876273 Benign
21780 P21817 (RYR1) Q E 3756 rs4802584 Benign
21781 P21817 (RYR1) R Q 3772 rs193922839 Disease: Central core disease of muscle (CCD) [MIM:117000]
21782 P21817 (RYR1) R W 3772 rs763112609 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21783 P21817 (RYR1) G R 3806 rs111565359 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21784 P21817 (RYR1) I M 3916 rs193922840 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21785 P21817 (RYR1) Y C 3933 rs147136339 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21786 P21817 (RYR1) R S 4136 rs193922849 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21787 P21817 (RYR1) V L 4234 rs193922852 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21788 P21817 (RYR1) P A 4493 rs149455643 Benign
21789 P21817 (RYR1) P L 4501 rs73933023 Benign
21790 P21817 (RYR1) R Q 4558 rs118192130 Disease: Central core disease of muscle (CCD) [MIM:117000]
21791 P21817 (RYR1) T I 4637 rs118192134 Benign
21792 P21817 (RYR1) T A 4637 rs118192166 Disease: Central core disease of muscle (CCD) [MIM:117000]
21793 P21817 (RYR1) G D 4638 rs118192135 Disease: Central core disease of muscle (CCD) [MIM:117000]
21794 P21817 (RYR1) L P 4650 rs118192138 Disease: Central core disease of muscle (CCD) [MIM:117000]
21795 P21817 (RYR1) H P 4651 rs118192139 Disease: Central core disease of muscle (CCD) [MIM:117000]
21796 P21817 (RYR1) P S 4668 rs193922863 Benign
21797 P21817 (RYR1) F S 4684 rs193922864 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21798 P21817 (RYR1) K Q 4724 rs118192141 Disease: Central core disease of muscle (CCD) [MIM:117000]
21799 P21817 (RYR1) R Q 4737 rs193922868 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21800 P21817 (RYR1) G D 4743 rs193922869 Disease: Central core disease of muscle (CCD) [MIM:117000]
21801 P21817 (RYR1) L P 4793 rs118192179 Disease: Central core disease of muscle (CCD) [MIM:117000]
21802 P21817 (RYR1) Y C 4796 rs118192167 Disease: Central core disease of muscle (CCD) [MIM:117000]
21803 P21817 (RYR1) N D 4806 rs886039586 Disease: Central core disease of muscle (CCD) [MIM:117000]
21804 P21817 (RYR1) L F 4814 rs118192142 Disease: Central core disease of muscle (CCD) [MIM:117000]
21805 P21817 (RYR1) L P 4824 rs193922874 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21806 P21817 (RYR1) R C 4825 rs118192180 Disease: Central core disease of muscle (CCD) [MIM:117000]
21807 P21817 (RYR1) T I 4826 rs121918595 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21808 P21817 (RYR1) L V 4838 rs193922878 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21809 P21817 (RYR1) V M 4842 rs193922879 Disease: Central core disease of muscle (CCD) [MIM:117000]
21810 P21817 (RYR1) A V 4846 rs118192143 Disease: Central core disease of muscle (CCD) [MIM:117000]
21811 P21817 (RYR1) V I 4849 rs118192168 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21812 P21817 (RYR1) R C 4861 rs118192181 Disease: Central core disease of muscle (CCD) [MIM:117000]
21813 P21817 (RYR1) R H 4861 rs63749869 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21814 P21817 (RYR1) Y C 4864 rs118192146 Disease: Central core disease of muscle (CCD) [MIM:117000]
21815 P21817 (RYR1) K R 4876 rs113210953 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21816 P21817 (RYR1) T M 4882 rs193922884 Disease: Central core disease of muscle (CCD) [MIM:117000]
21817 P21817 (RYR1) G R 4891 rs118192149 Disease: Central core disease of muscle (CCD) [MIM:117000]
21818 P21817 (RYR1) R Q 4893 rs118192151 Disease: Central core disease of muscle (CCD) [MIM:117000]
21819 P21817 (RYR1) R W 4893 rs118192150 Disease: Central core disease of muscle (CCD) [MIM:117000]
21820 P21817 (RYR1) G A 4897 - Disease: Central core disease of muscle (CCD) [MIM:117000]
21821 P21817 (RYR1) G V 4897 rs118192148 Disease: Central core disease of muscle (CCD) [MIM:117000]
21822 P21817 (RYR1) I T 4898 rs118192170 Disease: Central core disease of muscle (CCD) [MIM:117000]
21823 P21817 (RYR1) G E 4899 rs118192183 Disease: Central core disease of muscle (CCD) [MIM:117000]
21824 P21817 (RYR1) G R 4899 rs193922891 Disease: Central core disease of muscle (CCD) [MIM:117000]
21825 P21817 (RYR1) A V 4906 rs118192153 Disease: Central core disease of muscle (CCD) [MIM:117000]
21826 P21817 (RYR1) R G 4914 rs118192184 Disease: Central core disease of muscle (CCD) [MIM:117000]
21827 P21817 (RYR1) R T 4914 rs118192154 Disease: Central core disease of muscle (CCD) [MIM:117000]
21828 P21817 (RYR1) I M 4938 rs118192159 Disease: Central core disease of muscle (CCD) [MIM:117000]
21829 P21817 (RYR1) I T 4938 rs111657878 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21830 P21817 (RYR1) D E 4939 rs193922895 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21831 P21817 (RYR1) A T 4940 rs118192158 Disease: Central core disease of muscle (CCD) [MIM:117000]
21832 P21817 (RYR1) G V 4942 rs193922896 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21833 P21817 (RYR1) P L 4973 rs146876145 Disease: Malignant hyperthermia 1 (MHS1) [MIM:145600]
21834 P21854 (CD72) P L 234 rs34791102 Benign
21835 P21860 (ERBB3) S Y 20 rs34379766 Benign
21836 P21860 (ERBB3) P L 30 rs56017157 Benign
21837 P21860 (ERBB3) T I 204 rs56107455 Benign
21838 P21860 (ERBB3) N S 385 rs12320176 Benign
21839 P21860 (ERBB3) R W 683 rs56387488 Benign
21840 P21860 (ERBB3) S L 717 rs35961836 Benign
21841 P21860 (ERBB3) I T 744 rs55787439 Benign
21842 P21860 (ERBB3) K R 998 rs56259600 Benign
21843 P21860 (ERBB3) S C 1119 rs773123 Benign
21844 P21860 (ERBB3) R H 1127 rs2271188 Benign
21845 P21860 (ERBB3) L I 1177 rs55699040 Benign
21846 P21860 (ERBB3) T K 1254 rs55709407 Benign
21847 P21860 (ERBB3) G S 1271 rs11171743 Benign
21848 P21860 (ERBB3) A T 1337 rs755855285 Disease: Erythroleuke mia, familial (FERLK) [MIM:133180]
21849 P21912 (SDHB) K E 40 - Benign
21850 P21912 (SDHB) A P 43 - Disease: Pheochromocy toma (PCC) [MIM:171300]
21851 P21912 (SDHB) R G 46 rs74315370 Disease: Pheochromocy toma (PCC) [MIM:171300]
21852 P21912 (SDHB) R Q 46 rs772551056 Disease: Pheochromocy toma (PCC) [MIM:171300]
21853 P21912 (SDHB) G R 53 - Disease: Pheochromocy toma (PCC) [MIM:171300]
21854 P21912 (SDHB) L H 65 rs876659329 Disease: Pheochromocy toma (PCC) [MIM:171300]
21855 P21912 (SDHB) L P 65 rs876659329 Disease: Pheochromocy toma (PCC) [MIM:171300]
21856 P21912 (SDHB) L S 87 rs727504457 Disease: Pheochromocy toma (PCC) [MIM:171300]
21857 P21912 (SDHB) S F 100 rs121917755 Disease: Pheochromocy toma (PCC) [MIM:171300]
21858 P21912 (SDHB) C Y 101 rs74315371 Disease: Pheochromocy toma (PCC) [MIM:171300]
21859 P21912 (SDHB) I N 127 - Disease: Pheochromocy toma (PCC) [MIM:171300]
21860 P21912 (SDHB) P R 131 - Disease: Paragangliom as 4 (PGL4) [MIM:115310]
21861 P21912 (SDHB) H P 132 rs74315372 Disease: Paragangliom as 4 (PGL4) [MIM:115310]
21862 P21912 (SDHB) C R 192 rs786202732 Disease: Pheochromocy toma (PCC) [MIM:171300]
21863 P21912 (SDHB) C Y 196 rs876658367 Disease: Pheochromocy toma (PCC) [MIM:171300]
21864 P21912 (SDHB) P R 197 rs74315367 Disease: Paragangliom as 4 (PGL4) [MIM:115310]
21865 P21912 (SDHB) R C 230 rs138996609 Disease: Pheochromocy toma (PCC) [MIM:171300]
21866 P21912 (SDHB) R H 242 rs74315368 Disease: Pheochromocy toma (PCC) [MIM:171300]
21867 P21917 (DRD4) V G 194 rs1800443 Benign
21868 P21918 (DRD5) C S 62 rs2227840 Benign
21869 P21918 (DRD5) L R 88 rs6282 Benign
21870 P21918 (DRD5) G E 110 rs2227849 Benign
21871 P21918 (DRD5) F V 207 rs2227845 Benign
21872 P21918 (DRD5) S N 233 rs2227843 Benign
21873 P21918 (DRD5) V I 238 rs2227852 Benign
21874 P21918 (DRD5) A V 269 rs538877978 Benign
21875 P21918 (DRD5) A V 286 rs2227850 Benign
21876 P21918 (DRD5) T P 297 rs2227851 Benign
21877 P21918 (DRD5) P Q 330 rs1800762 Benign
21878 P21918 (DRD5) N D 351 - Benign
21879 P21918 (DRD5) S C 453 rs776114395 Benign
21880 P21953 (BCKDHB) T I 41 rs35470366 Benign
21881 P21953 (BCKDHB) R H 170 rs371518124 Disease: Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
21882 P21953 (BCKDHB) R P 183 rs79761867 Disease: Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
21883 P21953 (BCKDHB) H R 206 - Disease: Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
21884 P21953 (BCKDHB) G S 278 rs386834233 Disease: Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
21885 P21953 (BCKDHB) Q R 346 - Disease: Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
21886 P21964 (COMT) C S 34 rs6270 Benign
21887 P21964 (COMT) A S 72 rs6267 Benign
21888 P21964 (COMT) A T 102 rs5031015 Benign
21889 P21964 (COMT) A V 146 rs4986871 Benign
21890 P21964 (COMT) V M 158 rs4680 Benign
21891 P21980 (TGM2) R H 76 rs41274720 Benign
21892 P21980 (TGM2) R H 214 rs45530133 Benign
21893 P21980 (TGM2) Q R 324 rs45567334 Benign
21894 P21980 (TGM2) R W 436 rs45629036 Benign
21895 P21980 (TGM2) P S 536 rs45556333 Benign
21896 P22003 (BMP5) H Y 2 rs9475437 Benign
21897 P22003 (BMP5) N S 121 rs35124644 Benign
21898 P22004 (BMP6) R C 257 rs10458105 Benign
21899 P22033 (MMUT) I V 69 rs115923556 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21900 P22033 (MMUT) P L 86 rs769348060 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21901 P22033 (MMUT) G E 87 rs1554160986 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21902 P22033 (MMUT) R H 93 rs121918251 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21903 P22033 (MMUT) G R 94 rs727504022 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21904 P22033 (MMUT) G V 94 rs535411418 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21905 P22033 (MMUT) P R 95 rs190834116 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21906 P22033 (MMUT) Y C 100 rs864309735 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21907 P22033 (MMUT) W R 105 rs121918249 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21908 P22033 (MMUT) R C 108 rs121918257 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21909 P22033 (MMUT) R G 108 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21910 P22033 (MMUT) R H 108 rs483352778 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21911 P22033 (MMUT) Q R 109 rs1461110052 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21912 P22033 (MMUT) Y C 110 rs796052005 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21913 P22033 (MMUT) N K 126 rs879253827 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21914 P22033 (MMUT) G R 133 rs879253828 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21915 P22033 (MMUT) A G 137 rs941483851 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21916 P22033 (MMUT) A V 137 rs941483851 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21917 P22033 (MMUT) L P 140 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21918 P22033 (MMUT) A T 141 rs1554160730 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21919 P22033 (MMUT) H Y 143 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21920 P22033 (MMUT) G S 145 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21921 P22033 (MMUT) S L 148 rs1300547552 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21922 P22033 (MMUT) D N 156 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21923 P22033 (MMUT) D V 156 rs757000253 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21924 P22033 (MMUT) G V 158 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21925 P22033 (MMUT) G R 161 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21926 P22033 (MMUT) G V 161 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21927 P22033 (MMUT) F S 174 rs864309733 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21928 P22033 (MMUT) M V 186 rs148331800 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21929 P22033 (MMUT) T S 187 rs879253830 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21930 P22033 (MMUT) N I 189 rs200908035 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21931 P22033 (MMUT) N K 189 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21932 P22033 (MMUT) A E 191 rs760782399 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21933 P22033 (MMUT) A E 197 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21934 P22033 (MMUT) G R 203 rs778702777 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21935 P22033 (MMUT) G C 215 rs121918258 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21936 P22033 (MMUT) G S 215 rs121918258 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21937 P22033 (MMUT) Q H 218 rs1446389693 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21938 P22033 (MMUT) N Y 219 rs121918256 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21939 P22033 (MMUT) R Q 228 rs770810987 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21940 P22033 (MMUT) T I 230 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21941 P22033 (MMUT) T R 230 rs879253833 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21942 P22033 (MMUT) Y N 231 rs864309736 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21943 P22033 (MMUT) S N 262 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21944 P22033 (MMUT) H Y 265 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21945 P22033 (MMUT) L S 281 rs796052007 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21946 P22033 (MMUT) G E 284 rs879253835 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21947 P22033 (MMUT) G R 284 rs761477436 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21948 P22033 (MMUT) S P 288 rs1179778233 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21949 P22033 (MMUT) G E 291 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21950 P22033 (MMUT) Q P 293 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21951 P22033 (MMUT) L S 305 rs1554160246 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21952 P22033 (MMUT) S F 306 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21953 P22033 (MMUT) W G 309 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21954 P22033 (MMUT) G V 312 rs864309734 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21955 P22033 (MMUT) Y C 316 rs781474200 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21956 P22033 (MMUT) A T 324 rs780387525 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21957 P22033 (MMUT) G D 325 rs879253837 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21958 P22033 (MMUT) L F 328 rs796052002 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21959 P22033 (MMUT) L P 328 rs965316043 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21960 P22033 (MMUT) S F 344 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21961 P22033 (MMUT) L R 347 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21962 P22033 (MMUT) H Y 350 rs1407914109 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21963 P22033 (MMUT) L P 358 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21964 P22033 (MMUT) Y S 364 rs563776413 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21965 P22033 (MMUT) N S 366 rs864309737 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21966 P22033 (MMUT) V D 368 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21967 P22033 (MMUT) R C 369 rs772552898 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21968 P22033 (MMUT) R H 369 rs564069299 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21969 P22033 (MMUT) T P 370 rs368790885 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21970 P22033 (MMUT) A E 377 rs121918250 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21971 P22033 (MMUT) Q H 383 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21972 P22033 (MMUT) Q P 383 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21973 P22033 (MMUT) H N 386 rs1554159937 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21974 P22033 (MMUT) H R 386 rs866933356 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21975 P22033 (MMUT) T I 387 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21976 P22033 (MMUT) N H 388 rs766010704 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21977 P22033 (MMUT) N K 388 rs879253840 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21978 P22033 (MMUT) P L 424 rs879253842 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21979 P22033 (MMUT) G E 426 rs533755473 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21980 P22033 (MMUT) G R 426 rs769922244 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21981 P22033 (MMUT) G D 427 rs753288303 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21982 P22033 (MMUT) G E 454 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21983 P22033 (MMUT) A T 499 rs2229385 Benign
21984 P22033 (MMUT) I T 505 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21985 P22033 (MMUT) Q K 514 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21986 P22033 (MMUT) L P 518 rs864309738 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21987 P22033 (MMUT) R H 532 rs1141321 Benign
21988 P22033 (MMUT) A P 535 rs760183775 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21989 P22033 (MMUT) C Y 560 rs1238333040 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21990 P22033 (MMUT) T R 566 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21991 P22033 (MMUT) F S 573 rs775593146 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21992 P22033 (MMUT) Y C 587 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21993 P22033 (MMUT) I R 597 rs1554158951 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21994 P22033 (MMUT) T A 598 rs9473556 Benign
21995 P22033 (MMUT) P L 615 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21996 P22033 (MMUT) P R 615 rs1554158777 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21997 P22033 (MMUT) P T 615 rs1302409621 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21998 P22033 (MMUT) R C 616 rs765284825 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
21999 P22033 (MMUT) L R 617 rs1554158775 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22000 P22033 (MMUT) L P 618 rs879253846 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22001 P22033 (MMUT) K N 621 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22002 P22033 (MMUT) G R 623 rs121918254 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22003 P22033 (MMUT) Q R 624 rs768521956 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22004 P22033 (MMUT) D G 625 rs879253847 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22005 P22033 (MMUT) D V 625 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22006 P22033 (MMUT) G C 626 rs982110849 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22007 P22033 (MMUT) H R 627 rs372486357 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22008 P22033 (MMUT) G E 630 rs143023066 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22009 P22033 (MMUT) V G 633 rs200055428 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22010 P22033 (MMUT) G E 637 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22011 P22033 (MMUT) G R 637 rs781501004 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22012 P22033 (MMUT) F I 638 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22013 P22033 (MMUT) D Y 640 rs865815395 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22014 P22033 (MMUT) G R 642 rs747897332 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22015 P22033 (MMUT) G D 648 rs766721811 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22016 P22033 (MMUT) V E 669 rs1360470463 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22017 P22033 (MMUT) I V 671 rs8589 Benign
22018 P22033 (MMUT) L F 674 rs1164271240 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22019 P22033 (MMUT) H R 678 rs147094927 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22020 P22033 (MMUT) L R 685 rs864309739 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22021 P22033 (MMUT) L P 692 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22022 P22033 (MMUT) R L 694 - Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22023 P22033 (MMUT) R W 694 rs777758903 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22024 P22033 (MMUT) M K 700 rs140600746 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22025 P22033 (MMUT) G R 703 rs121918255 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22026 P22033 (MMUT) G V 717 rs121918252 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22027 P22033 (MMUT) G D 723 rs755077681 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22028 P22033 (MMUT) L F 736 rs753461919 Disease: Methylmaloni c aciduria type mut (MMAM) [MIM:251000]
22029 P22061 (PCMT1) V I 120 rs4816 Benign
22030 P22079 (LPO) T I 105 rs8178318 Benign
22031 P22079 (LPO) A T 244 rs8178338 Benign
22032 P22079 (LPO) R Q 414 rs8178355 Benign
22033 P22079 (LPO) V M 421 rs2301870 Benign
22034 P22079 (LPO) R Q 514 rs8178401 Benign
22035 P22079 (LPO) I T 614 rs8178408 Benign
22036 P22079 (LPO) D N 700 rs8178412 Benign
22037 P22083 (FUT4) I V 255 rs2230273 Benign
22038 P22102 (GART) L F 21 rs1804387 Benign
22039 P22102 (GART) V I 421 rs8788 Benign
22040 P22102 (GART) D G 510 rs35927582 Benign
22041 P22102 (GART) P A 641 rs34588874 Benign
22042 P22102 (GART) D G 752 rs8971 Benign
22043 P22105 (TNXB) R W 29 rs368512272 Disease: Ehlers- Danlos syndrome, classic-like (EDSCLL) [MIM:606408]
22044 P22105 (TNXB) T A 302 rs1150752 Benign
22045 P22105 (TNXB) R H 511 rs204896 Benign
22046 P22105 (TNXB) G C 641 rs17201609 Benign
22047 P22105 (TNXB) R H 650 rs17201602 Benign
22048 P22105 (TNXB) S A 873 rs204900 Benign
22049 P22105 (TNXB) V M 1108 rs121912575 Disease: Ehlers- Danlos syndrome, classic-like (EDSCLL) [MIM:606408]
22050 P22105 (TNXB) H R 1161 rs185819 Benign
22051 P22105 (TNXB) T R 1244 - Disease: Vesicoureter al reflux 8 (VUR8) [MIM:615963]
22052 P22105 (TNXB) E K 1905 rs17207923 Benign
22053 P22105 (TNXB) P H 2301 rs2269428 Benign
22054 P22105 (TNXB) P H 2363 rs2269428 Benign
22055 P22105 (TNXB) P L 2412 rs12524664 Benign
22056 P22105 (TNXB) G S 2495 rs2269429 Benign
22057 P22105 (TNXB) G E 2518 rs1009382 Benign
22058 P22105 (TNXB) V I 3212 rs1473257039 Disease: Vesicoureter al reflux 8 (VUR8) [MIM:615963]
22059 P22105 (TNXB) L I 3988 rs7742632 Benign
22060 P22105 (TNXB) R C 4074 rs587777682 Disease: Ehlers- Danlos syndrome, classic-like (EDSCLL) [MIM:606408]
22061 P22223 (CDH3) V M 237 rs17854171 Benign
22062 P22223 (CDH3) N I 322 rs121434543 Disease: Ectodermal dysplasia, ectrodactyly , and macular dystrophy syndrome (EEMS) [MIM:225280]
22063 P22223 (CDH3) R H 477 rs34494880 Benign
22064 P22223 (CDH3) R H 503 rs121434542 Disease: Hypotrichosi s congenital with juvenile macular dystrophy (HJMD) [MIM:601553]
22065 P22223 (CDH3) Q H 563 rs1126933 Benign
22066 P22234 (PAICS) K N 201 rs11549976 Benign
22067 P22301 (IL10) G R 15 rs145922845 Benign
22068 P22303 (ACHE) R Q 34 rs17881553 Benign
22069 P22303 (ACHE) P A 135 rs17885778 Benign
22070 P22303 (ACHE) V E 333 rs8286 Benign
22071 P22303 (ACHE) H N 353 rs1799805 Benign
22072 P22304 (IDS) L P 41 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22073 P22304 (IDS) D N 45 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22074 P22304 (IDS) R P 48 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22075 P22304 (IDS) Y D 54 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22076 P22304 (IDS) N D 63 rs193302909 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22077 P22304 (IDS) A E 68 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22078 P22304 (IDS) S N 71 rs113993954 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22079 P22304 (IDS) S R 71 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22080 P22304 (IDS) L F 73 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22081 P22304 (IDS) A E 79 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22082 P22304 (IDS) A E 82 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22083 P22304 (IDS) A V 82 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22084 P22304 (IDS) A S 85 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22085 P22304 (IDS) A T 85 rs113993949 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22086 P22304 (IDS) P L 86 rs1557340280 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22087 P22304 (IDS) P Q 86 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22088 P22304 (IDS) P R 86 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22089 P22304 (IDS) S N 87 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22090 P22304 (IDS) R C 88 rs398123249 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22091 P22304 (IDS) R G 88 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22092 P22304 (IDS) R H 88 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22093 P22304 (IDS) R L 88 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22094 P22304 (IDS) R P 88 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22095 P22304 (IDS) V F 89 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22096 P22304 (IDS) L P 92 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22097 P22304 (IDS) G D 94 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22098 P22304 (IDS) R G 95 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22099 P22304 (IDS) R T 95 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22100 P22304 (IDS) L R 102 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22101 P22304 (IDS) Y C 108 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22102 P22304 (IDS) Y S 108 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22103 P22304 (IDS) N Y 115 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22104 P22304 (IDS) S Y 117 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22105 P22304 (IDS) T I 118 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22106 P22304 (IDS) P H 120 rs193302911 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22107 P22304 (IDS) P R 120 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22108 P22304 (IDS) Q H 121 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22109 P22304 (IDS) Q R 121 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22110 P22304 (IDS) E V 125 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22111 P22304 (IDS) S W 132 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22112 P22304 (IDS) G R 134 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22113 P22304 (IDS) K N 135 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22114 P22304 (IDS) K R 135 rs104894861 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22115 P22304 (IDS) H D 138 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22116 P22304 (IDS) G V 140 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22117 P22304 (IDS) S F 143 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22118 P22304 (IDS) D H 148 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22119 P22304 (IDS) H P 159 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22120 P22304 (IDS) P R 160 rs104894856 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22121 P22304 (IDS) N I 181 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22122 P22304 (IDS) L P 182 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22123 P22304 (IDS) C F 184 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22124 P22304 (IDS) C W 184 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22125 P22304 (IDS) L S 196 rs398123250 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22126 P22304 (IDS) D G 198 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22127 P22304 (IDS) A P 205 rs864622779 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22128 P22304 (IDS) L P 221 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22129 P22304 (IDS) G E 224 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22130 P22304 (IDS) Y D 225 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22131 P22304 (IDS) K M 227 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22132 P22304 (IDS) K Q 227 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22133 P22304 (IDS) P L 228 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22134 P22304 (IDS) P T 228 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22135 P22304 (IDS) H R 229 rs193302905 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22136 P22304 (IDS) H Y 229 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22137 P22304 (IDS) P L 231 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22138 P22304 (IDS) D N 252 rs146458524 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22139 P22304 (IDS) L P 259 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22140 P22304 (IDS) Y N 264 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22141 P22304 (IDS) N I 265 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22142 P22304 (IDS) P H 266 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22143 P22304 (IDS) P R 266 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22144 P22304 (IDS) D V 269 rs1085308006 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22145 P22304 (IDS) Q H 293 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22146 P22304 (IDS) S I 299 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22147 P22304 (IDS) D E 308 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22148 P22304 (IDS) D N 308 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22149 P22304 (IDS) T A 309 rs145807417 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22150 P22304 (IDS) L P 314 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22151 P22304 (IDS) S L 333 rs104894853 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22152 P22304 (IDS) D G 334 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22153 P22304 (IDS) D N 334 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22154 P22304 (IDS) H R 335 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22155 P22304 (IDS) G E 336 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22156 P22304 (IDS) G R 336 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22157 P22304 (IDS) W R 337 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22158 P22304 (IDS) L R 339 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22159 P22304 (IDS) G D 340 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22160 P22304 (IDS) E K 341 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22161 P22304 (IDS) H Y 342 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22162 P22304 (IDS) W C 345 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22163 P22304 (IDS) A D 346 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22164 P22304 (IDS) A V 346 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22165 P22304 (IDS) K I 347 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22166 P22304 (IDS) K Q 347 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22167 P22304 (IDS) K T 347 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22168 P22304 (IDS) Y H 348 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22169 P22304 (IDS) S I 349 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22170 P22304 (IDS) P R 358 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22171 P22304 (IDS) L R 403 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22172 P22304 (IDS) L P 410 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22173 P22304 (IDS) C G 422 rs199422229 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22174 P22304 (IDS) C R 422 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22175 P22304 (IDS) C Y 432 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22176 P22304 (IDS) E K 434 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22177 P22304 (IDS) Q P 465 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22178 P22304 (IDS) P L 467 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22179 P22304 (IDS) R G 468 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22180 P22304 (IDS) R L 468 rs113993946 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22181 P22304 (IDS) R Q 468 rs113993946 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22182 P22304 (IDS) R W 468 rs199422231 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22183 P22304 (IDS) P H 469 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22184 P22304 (IDS) D G 478 rs864622773 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22185 P22304 (IDS) D Y 478 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22186 P22304 (IDS) P L 480 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22187 P22304 (IDS) P Q 480 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22188 P22304 (IDS) P R 480 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22189 P22304 (IDS) I K 485 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22190 P22304 (IDS) I R 485 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22191 P22304 (IDS) Y S 490 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22192 P22304 (IDS) S F 491 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22193 P22304 (IDS) W C 502 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22194 P22304 (IDS) W S 502 rs199422228 Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22195 P22304 (IDS) E K 521 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22196 P22304 (IDS) E V 521 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22197 P22304 (IDS) Y C 523 - Disease: Mucopolysacc haridosis 2 (MPS2) [MIM:309900]
22198 P22309 (UGT1A1) L R 15 rs111033541 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22199 P22309 (UGT1A1) P Q 34 - Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22200 P22309 (UGT1A1) D N 36 - Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22201 P22309 (UGT1A1) H D 39 rs72551339 Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22202 P22309 (UGT1A1) G R 71 rs4148323 Disease: Transient familial neonatal hyperbilirub inemia (HBLRTFN) [MIM:237900]
22203 P22309 (UGT1A1) F L 83 rs56059937 Disease: Gilbert syndrome (GILBS) [MIM:143500]
22204 P22309 (UGT1A1) L Q 175 rs72551341 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22205 P22309 (UGT1A1) C R 177 rs72551342 Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22206 P22309 (UGT1A1) S F 191 - Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22207 P22309 (UGT1A1) R W 209 rs72551343 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22208 P22309 (UGT1A1) V G 225 rs35003977 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22209 P22309 (UGT1A1) P Q 229 rs35350960 Disease: Gilbert syndrome (GILBS) [MIM:143500]
22210 P22309 (UGT1A1) Y C 230 rs754922685 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22211 P22309 (UGT1A1) G R 276 rs72551345 Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22212 P22309 (UGT1A1) N Y 279 rs397978903 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22213 P22309 (UGT1A1) E V 291 - Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22214 P22309 (UGT1A1) A V 292 rs758873309 Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22215 P22309 (UGT1A1) I T 294 rs72551347 Disease: Gilbert syndrome (GILBS) [MIM:143500]
22216 P22309 (UGT1A1) G E 308 rs62625011 Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22217 P22309 (UGT1A1) Q R 331 rs72551348 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22218 P22309 (UGT1A1) R L 336 - Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22219 P22309 (UGT1A1) R Q 336 rs750453538 Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22220 P22309 (UGT1A1) R W 336 rs139607673 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22221 P22309 (UGT1A1) W R 354 - Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22222 P22309 (UGT1A1) Q R 357 rs72551351 Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22223 P22309 (UGT1A1) R C 367 rs55750087 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22224 P22309 (UGT1A1) R G 367 rs55750087 Disease: Gilbert syndrome (GILBS) [MIM:143500]
22225 P22309 (UGT1A1) A T 368 rs72551352 Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22226 P22309 (UGT1A1) I V 370 rs748989741 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22227 P22309 (UGT1A1) S F 375 rs72551353 Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22228 P22309 (UGT1A1) H R 376 rs1349037761 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22229 P22309 (UGT1A1) G V 377 rs1283652721 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22230 P22309 (UGT1A1) S R 381 rs72551354 Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22231 P22309 (UGT1A1) P H 387 - Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22232 P22309 (UGT1A1) P S 387 rs901936528 Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22233 P22309 (UGT1A1) G V 395 rs367897068 Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22234 P22309 (UGT1A1) N D 400 rs28934877 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22235 P22309 (UGT1A1) A P 401 rs72551355 Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22236 P22309 (UGT1A1) K T 402 - Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22237 P22309 (UGT1A1) R C 403 rs778766461 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22238 P22309 (UGT1A1) K E 428 rs72551356 Disease: Crigler- Najjar syndrome 1 (CN1) [MIM:218800]
22239 P22309 (UGT1A1) L P 443 rs758411577 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22240 P22309 (UGT1A1) W R 461 rs1476500325 Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22241 P22309 (UGT1A1) A D 478 - Disease: Crigler- Najjar syndrome 2 (CN2) [MIM:606785]
22242 P22309 (UGT1A1) Y D 486 rs34993780 Disease: Transient familial neonatal hyperbilirub inemia (HBLRTFN) [MIM:237900]
22243 P22309 (UGT1A1) A P 511 rs1042709 Benign
22244 P22310 (UGT1A4) R W 11 rs3892221 Benign
22245 P22310 (UGT1A4) P T 24 rs6755571 Benign
22246 P22310 (UGT1A4) L V 48 rs2011425 Benign
22247 P22310 (UGT1A4) H Y 68 rs45621441 Benign
22248 P22310 (UGT1A4) I F 176 rs45540231 Benign
22249 P22314 (UBA1) R H 447 rs2070169 Benign
22250 P22314 (UBA1) M I 539 rs80356545 Disease: Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830]
22251 P22314 (UBA1) S G 547 rs80356546 Disease: Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830]
22252 P22314 (UBA1) E V 557 - Disease: Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830]
22253 P22352 (GPX3) F L 128 rs8177445 Benign
22254 P22413 (ENPP1) L P 91 - Disease: Ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]
22255 P22413 (ENPP1) G D 92 - Disease: Hypophosphat emic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312]
22256 P22413 (ENPP1) C R 120 - Disease: Cole disease (COLED) [MIM:615522]
22257 P22413 (ENPP1) C R 126 - Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22258 P22413 (ENPP1) C R 133 - Disease: Cole disease (COLED) [MIM:615522]
22259 P22413 (ENPP1) C S 149 rs397518477 Disease: Cole disease (COLED) [MIM:615522]
22260 P22413 (ENPP1) C S 164 rs397518476 Disease: Cole disease (COLED) [MIM:615522]
22261 P22413 (ENPP1) K Q 173 rs1044498 Benign
22262 P22413 (ENPP1) C S 177 - Disease: Cole disease (COLED) [MIM:615522]
22263 P22413 (ENPP1) C Y 177 rs397518475 Disease: Cole disease (COLED) [MIM:615522]
22264 P22413 (ENPP1) N S 179 rs2273411 Benign
22265 P22413 (ENPP1) C R 195 rs763457176 Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22266 P22413 (ENPP1) C S 195 - Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22267 P22413 (ENPP1) D V 218 rs1231182870 Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22268 P22413 (ENPP1) G V 266 rs121908248 Disease: Hypophosphat emic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312]
22269 P22413 (ENPP1) Y H 268 rs17847050 Benign
22270 P22413 (ENPP1) S F 287 rs190947144 Disease: Ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]
22271 P22413 (ENPP1) Y C 301 - Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22272 P22413 (ENPP1) P T 305 rs374270497 Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22273 P22413 (ENPP1) G V 342 rs121918025 Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22274 P22413 (ENPP1) R Q 456 rs765071179 Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22275 P22413 (ENPP1) Y C 471 rs148462924 Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22276 P22413 (ENPP1) H P 500 - Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22277 P22413 (ENPP1) S R 504 - Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22278 P22413 (ENPP1) Y C 513 rs1243920034 Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22279 P22413 (ENPP1) D H 538 rs387906673 Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22280 P22413 (ENPP1) Y C 570 rs140248167 Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22281 P22413 (ENPP1) G R 586 rs777367269 Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22282 P22413 (ENPP1) L V 611 rs79079368 Benign
22283 P22413 (ENPP1) Y C 659 rs143393727 Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22284 P22413 (ENPP1) E K 668 rs115371819 Benign
22285 P22413 (ENPP1) C R 726 - Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22286 P22413 (ENPP1) R C 774 rs28933977 Benign
22287 P22413 (ENPP1) H R 777 rs147346173 Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22288 P22413 (ENPP1) T P 779 rs1805138 Benign
22289 P22413 (ENPP1) N S 792 rs370184526 Disease: Hypophosphat emic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312]
22290 P22413 (ENPP1) D H 804 - Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22291 P22413 (ENPP1) R H 821 rs367759638 Benign
22292 P22413 (ENPP1) R T 886 rs8192683 Benign
22293 P22413 (ENPP1) R W 888 rs184483616 Disease: Arterial calcificatio n of infancy, generalized, 1 (GACI1) [MIM:208000]
22294 P22413 (ENPP1) Y S 901 rs121908249 Disease: Hypophosphat emic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312]
22295 P22455 (FGFR4) V I 10 rs1966265 Benign
22296 P22455 (FGFR4) P L 136 rs376618 Benign
22297 P22455 (FGFR4) T A 179 rs55675160 Benign
22298 P22455 (FGFR4) G R 388 rs351855 Disease: Prostate cancer (PC) [MIM:176807]
22299 P22455 (FGFR4) G S 426 rs55879131 Benign
22300 P22455 (FGFR4) D N 516 rs34158682 Benign
22301 P22455 (FGFR4) R Q 529 rs34284947 Benign
22302 P22455 (FGFR4) V M 550 rs774571806 Benign
22303 P22460 (KCNA5) L M 85 - Benign
22304 P22460 (KCNA5) P S 228 rs1056464 Benign
22305 P22460 (KCNA5) R K 578 rs12720445 Benign
22306 P22466 (GAL) A V 16 rs34725707 Benign
22307 P22466 (GAL) A E 39 rs1057517661 Disease: Epilepsy, familial temporal lobe, 8 (ETL8) [MIM:616461]
22308 P22492 (H1-6) V L 14 rs198844 Benign
22309 P22492 (H1-6) L F 52 rs2051542 Benign
22310 P22492 (H1-6) Q K 178 rs198845 Benign
22311 P22528 (SPRR1B) T I 11 rs3795382 Benign
22312 P22528 (SPRR1B) Q H 23 - Benign
22313 P22528 (SPRR1B) V L 61 rs768218193 Benign
22314 P22528 (SPRR1B) A P 80 - Benign
22315 P22532 (SPRR2D) T A 20 rs1846857 Benign
22316 P22557 (ALAS2) K E 156 - Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22317 P22557 (ALAS2) D Y 159 rs137852308 Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22318 P22557 (ALAS2) F L 165 rs137852301 Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22319 P22557 (ALAS2) R C 170 - Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22320 P22557 (ALAS2) R H 170 - Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22321 P22557 (ALAS2) Y H 199 rs137852310 Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22322 P22557 (ALAS2) R Q 204 rs1338391423 Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22323 P22557 (ALAS2) R H 218 rs185504937 Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22324 P22557 (ALAS2) E K 242 - Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22325 P22557 (ALAS2) D N 263 - Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22326 P22557 (ALAS2) V A 301 - Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22327 P22557 (ALAS2) P L 339 - Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22328 P22557 (ALAS2) R C 375 - Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22329 P22557 (ALAS2) T S 388 rs137852300 Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22330 P22557 (ALAS2) R C 411 rs137852305 Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22331 P22557 (ALAS2) R H 411 - Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22332 P22557 (ALAS2) R Q 448 - Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22333 P22557 (ALAS2) R C 452 rs137852311 Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22334 P22557 (ALAS2) R G 452 - Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22335 P22557 (ALAS2) R H 452 rs863223904 Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22336 P22557 (ALAS2) I N 476 rs137852299 Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22337 P22557 (ALAS2) R G 517 - Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22338 P22557 (ALAS2) P L 520 rs201062903 Benign
22339 P22557 (ALAS2) R H 560 rs892041887 Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22340 P22557 (ALAS2) R H 572 - Disease: Anemia, sideroblasti c, 1 (SIDBA1) [MIM:300751]
22341 P22557 (ALAS2) Y F 586 rs139596860 Benign
22342 P22570 (FDXR) R L 7 rs28365947 Benign
22343 P22570 (FDXR) R Q 123 rs690514 Benign
22344 P22570 (FDXR) G V 213 rs35692345 Benign
22345 P22570 (FDXR) L V 215 - Disease: Auditory neuropathy and optic atrophy (ANOA) [MIM:617717]
22346 P22570 (FDXR) R W 242 - Disease: Auditory neuropathy and optic atrophy (ANOA) [MIM:617717]
22347 P22570 (FDXR) P L 248 rs35072974 Benign
22348 P22570 (FDXR) R W 251 rs34038065 Benign
22349 P22570 (FDXR) R C 301 rs34118765 Benign
22350 P22570 (FDXR) R C 306 - Disease: Auditory neuropathy and optic atrophy (ANOA) [MIM:617717]
22351 P22570 (FDXR) R S 327 - Disease: Auditory neuropathy and optic atrophy (ANOA) [MIM:617717]
22352 P22570 (FDXR) T M 345 rs35660143 Benign
22353 P22570 (FDXR) P S 352 rs35696549 Benign
22354 P22570 (FDXR) T A 472 rs35769464 Benign
22355 P22607 (FGFR3) G R 65 rs2305178 Benign
22356 P22607 (FGFR3) R C 248 rs121913482 Disease: Thanatophori c dysplasia 1 (TD1) [MIM:187600]
22357 P22607 (FGFR3) S C 249 rs121913483 Disease: Thanatophori c dysplasia 1 (TD1) [MIM:187600]
22358 P22607 (FGFR3) P R 250 rs4647924 Disease: Muenke syndrome (MNKS) [MIM:602849]
22359 P22607 (FGFR3) T M 338 - Benign
22360 P22607 (FGFR3) G C 370 rs121913479 Disease: Thanatophori c dysplasia 1 (TD1) [MIM:187600]
22361 P22607 (FGFR3) S C 371 rs121913484 Disease: Thanatophori c dysplasia 1 (TD1) [MIM:187600]
22362 P22607 (FGFR3) Y C 373 rs121913485 Disease: Thanatophori c dysplasia 1 (TD1) [MIM:187600]
22363 P22607 (FGFR3) G C 375 rs75790268 Disease: Achondroplas ia (ACH) [MIM:100800]
22364 P22607 (FGFR3) G R 380 rs28931614 Disease: Keratinocyti c non-epidermo lytic nevus (KNEN) [MIM:162900]
22365 P22607 (FGFR3) F L 384 rs17881656 Benign
22366 P22607 (FGFR3) A E 391 rs28931615 Disease: Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247]
22367 P22607 (FGFR3) A T 441 rs17884368 Benign
22368 P22607 (FGFR3) D N 513 rs121913112 Disease: Lacrimo- auriculo- dento- digital syndrome (LADDS) [MIM:149730]
22369 P22607 (FGFR3) I V 538 rs80053154 Disease: Hypochondrop lasia (HCH) [MIM:146000]
22370 P22607 (FGFR3) N K 540 rs28933068 Disease: Hypochondrop lasia (HCH) [MIM:146000]
22371 P22607 (FGFR3) N S 540 rs77722678 Disease: Hypochondrop lasia (HCH) [MIM:146000]
22372 P22607 (FGFR3) N T 540 rs77722678 Disease: Hypochondrop lasia (HCH) [MIM:146000]
22373 P22607 (FGFR3) R H 621 rs121913113 Disease: Camptodactyl y, tall stature, and hearing loss syndrome (CATSHLS) [MIM:610474]
22374 P22607 (FGFR3) D N 646 - Benign
22375 P22607 (FGFR3) K E 650 rs78311289 Disease: Thanatophori c dysplasia 2 (TD2) [MIM:187601]
22376 P22607 (FGFR3) K M 650 rs121913105 Disease: Thanatophori c dysplasia 1 (TD1) [MIM:187600]
22377 P22607 (FGFR3) K Q 650 rs78311289 Disease: Hypochondrop lasia (HCH) [MIM:146000]
22378 P22607 (FGFR3) A T 717 rs17882190 Benign
22379 P22607 (FGFR3) I F 726 rs17880763 Benign
22380 P22612 (PRKACG) I M 74 rs724159972 Disease: Bleeding disorder, platelet- type 19 (BDPLT19) [MIM:616176]
22381 P22612 (PRKACG) I N 251 rs56287972 Benign
22382 P22612 (PRKACG) H D 268 rs3730386 Benign
22383 P22626 (HNRNPA2B1) D V 302 rs397515326 Disease: Inclusion body myopathy with early-onset Paget disease with or without frontotempor al dementia 2 (IBMPFD2) [MIM:615422]
22384 P22670 (RFX1) T A 370 rs2305780 Benign
22385 P22674 (CCNO) L M 161 rs13169396 Benign
22386 P22674 (CCNO) L P 213 rs775051461 Disease: Ciliary dyskinesia, primary, 29 (CILD29) [MIM:615872]
22387 P22674 (CCNO) H R 239 rs797045150 Disease: Ciliary dyskinesia, primary, 29 (CILD29) [MIM:615872]
22388 P22680 (CYP7A1) H N 86 rs62621283 Benign
22389 P22680 (CYP7A1) F S 100 - Benign
22390 P22680 (CYP7A1) N S 233 rs8192874 Benign
22391 P22680 (CYP7A1) D N 347 rs8192875 Benign
22392 P22681 (CBL) Q P 367 rs267606704 Disease: Noonan syndrome- like disorder with or without juvenile myelomonocyt ic leukemia (NSLL) [MIM:613563]
22393 P22681 (CBL) K E 382 rs267606705 Disease: Noonan syndrome- like disorder with or without juvenile myelomonocyt ic leukemia (NSLL) [MIM:613563]
22394 P22681 (CBL) D Y 390 rs267606707 Disease: Noonan syndrome- like disorder with or without juvenile myelomonocyt ic leukemia (NSLL) [MIM:613563]
22395 P22681 (CBL) R Q 420 rs267606708 Disease: Noonan syndrome- like disorder with or without juvenile myelomonocyt ic leukemia (NSLL) [MIM:613563]
22396 P22681 (CBL) L F 620 rs2227988 Benign
22397 P22681 (CBL) P L 782 rs2229073 Benign
22398 P22681 (CBL) V I 904 rs17122769 Benign
22399 P22692 (IGFBP4) V G 42 rs599199 Benign
22400 P22694 (PRKACB) R Q 106 rs36117118 Benign
22401 P22695 (UQCRC2) R S 148 rs2228473 Benign
22402 P22695 (UQCRC2) R Q 183 rs4850 Benign
22403 P22695 (UQCRC2) R W 183 rs374661051 Disease: Mitochondria l complex III deficiency, nuclear 5 (MC3DN5) [MIM:615160]
22404 P22695 (UQCRC2) R H 254 rs11863893 Benign
22405 P22732 (SLC2A5) I V 296 rs1451503051 Benign
22406 P22735 (TGM1) S Y 42 rs41295338 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22407 P22735 (TGM1) C S 53 - Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22408 P22735 (TGM1) G D 94 rs121918729 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22409 P22735 (TGM1) D V 102 rs398122901 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22410 P22735 (TGM1) R C 126 rs397514524 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22411 P22735 (TGM1) R H 126 rs200491579 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22412 P22735 (TGM1) D N 132 rs2229462 Benign
22413 P22735 (TGM1) Y C 134 rs147916609 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22414 P22735 (TGM1) R C 142 rs121918716 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22415 P22735 (TGM1) R H 142 rs121918718 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22416 P22735 (TGM1) R P 142 - Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22417 P22735 (TGM1) R C 143 rs531650682 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22418 P22735 (TGM1) R H 143 rs121918719 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22419 P22735 (TGM1) G E 144 rs1465243895 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22420 P22735 (TGM1) G R 144 rs778635368 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22421 P22735 (TGM1) S C 160 rs121918728 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22422 P22735 (TGM1) L Q 205 rs878853259 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22423 P22735 (TGM1) V F 209 - Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22424 P22735 (TGM1) S F 212 rs1555306304 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22425 P22735 (TGM1) G S 218 rs121918732 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22426 P22735 (TGM1) R H 225 rs549195122 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22427 P22735 (TGM1) R P 225 rs549195122 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22428 P22735 (TGM1) I S 243 - Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22429 P22735 (TGM1) P L 249 - Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22430 P22735 (TGM1) R Q 264 rs781006633 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22431 P22735 (TGM1) R W 264 rs201868387 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22432 P22735 (TGM1) S P 272 rs764040146 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22433 P22735 (TGM1) Y N 276 rs397514523 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22434 P22735 (TGM1) G R 278 rs121918725 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22435 P22735 (TGM1) E K 285 rs749721551 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22436 P22735 (TGM1) R Q 286 rs121918727 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22437 P22735 (TGM1) N T 289 rs121918730 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22438 P22735 (TGM1) F V 293 - Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22439 P22735 (TGM1) I F 304 rs753798494 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22440 P22735 (TGM1) R G 307 rs121918731 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22441 P22735 (TGM1) R W 307 rs121918731 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22442 P22735 (TGM1) R C 315 rs397514525 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22443 P22735 (TGM1) R H 315 rs143473912 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22444 P22735 (TGM1) R L 315 rs143473912 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22445 P22735 (TGM1) R Q 323 rs121918717 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22446 P22735 (TGM1) R W 323 rs771820315 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22447 P22735 (TGM1) N H 330 - Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22448 P22735 (TGM1) S P 331 - Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22449 P22735 (TGM1) W R 342 - Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22450 P22735 (TGM1) S R 358 rs779287673 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22451 P22735 (TGM1) V M 359 rs202037016 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22452 P22735 (TGM1) Y D 365 - Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22453 P22735 (TGM1) L P 366 - Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22454 P22735 (TGM1) V I 372 rs41293794 Benign
22455 P22735 (TGM1) V L 379 rs121918720 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22456 P22735 (TGM1) G R 382 - Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22457 P22735 (TGM1) V M 383 rs121918722 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22458 P22735 (TGM1) R H 389 rs121918723 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22459 P22735 (TGM1) R P 389 rs121918723 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22460 P22735 (TGM1) G D 392 rs121918726 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22461 P22735 (TGM1) R H 396 rs121918721 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22462 P22735 (TGM1) R L 396 rs121918721 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22463 P22735 (TGM1) R S 396 - Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22464 P22735 (TGM1) F V 401 rs991194429 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22465 P22735 (TGM1) D V 430 rs1555306103 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22466 P22735 (TGM1) G S 473 rs904122716 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22467 P22735 (TGM1) D G 490 rs121918724 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22468 P22735 (TGM1) V M 518 rs35312232 Benign
22469 P22735 (TGM1) E G 520 rs142404759 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22470 P22735 (TGM1) Y C 544 rs1044429462 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22471 P22735 (TGM1) R C 607 rs2229464 Benign
22472 P22735 (TGM1) R C 687 rs147516124 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22473 P22735 (TGM1) R H 687 - Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22474 P22735 (TGM1) S L 755 rs35926651 Benign
22475 P22735 (TGM1) R C 764 rs201853046 Disease: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]
22476 P22735 (TGM1) D V 802 rs2228337 Benign
22477 P22736 (NR4A1) L V 26 rs1882118 Benign
22478 P22748 (CA4) A T 12 rs1245199379 Disease: Retinitis pigmentosa 17 (RP17) [MIM:600852]
22479 P22748 (CA4) R W 14 rs104894559 Disease: Retinitis pigmentosa 17 (RP17) [MIM:600852]
22480 P22748 (CA4) R H 69 rs121434552 Disease: Retinitis pigmentosa 17 (RP17) [MIM:600852]
22481 P22748 (CA4) N K 177 rs185942554 Benign
22482 P22748 (CA4) R S 219 rs121434551 Disease: Retinitis pigmentosa 17 (RP17) [MIM:600852]
22483 P22748 (CA4) V L 237 rs2229178 Benign
22484 P22749 (GNLY) T I 119 rs11127 Benign
22485 P22760 (AADAC) V I 281 rs1803155 Benign
22486 P22792 (CPN2) A T 305 rs3732477 Benign
22487 P22792 (CPN2) Q R 509 rs4974538 Benign
22488 P22792 (CPN2) V M 536 rs11711157 Benign
22489 P22830 (FECH) G C 55 rs3848519 Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22490 P22830 (FECH) P R 62 rs150830931 Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22491 P22830 (FECH) I K 71 - Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22492 P22830 (FECH) R Q 96 rs1041951 Benign
22493 P22830 (FECH) Q L 139 rs1356965294 Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22494 P22830 (FECH) S P 151 - Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22495 P22830 (FECH) E K 178 rs1160565035 Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22496 P22830 (FECH) L R 182 - Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22497 P22830 (FECH) I T 186 - Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22498 P22830 (FECH) Y H 191 rs1055019947 Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22499 P22830 (FECH) P T 192 - Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22500 P22830 (FECH) C Y 236 rs761962617 Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22501 P22830 (FECH) F L 260 - Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22502 P22830 (FECH) S L 264 - Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22503 P22830 (FECH) M I 267 rs118204037 Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22504 P22830 (FECH) T I 283 - Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22505 P22830 (FECH) M K 288 - Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22506 P22830 (FECH) P L 334 rs150146721 Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22507 P22830 (FECH) V G 362 rs118204040 Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22508 P22830 (FECH) K N 379 - Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22509 P22830 (FECH) H P 386 - Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22510 P22830 (FECH) C S 406 - Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22511 P22830 (FECH) C Y 406 rs1324421474 Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22512 P22830 (FECH) F S 417 rs118204039 Disease: Protoporphyr ia, erythropoiet ic, 1 (EPP1) [MIM:177000]
22513 P22888 (LHCGR) C R 131 rs121912527 Disease: Luteinizing hormone resistance (LHR) [MIM:238320]
22514 P22888 (LHCGR) V F 144 rs121912539 Disease: Luteinizing hormone resistance (LHR) [MIM:238320]
22515 P22888 (LHCGR) I T 152 - Disease: Luteinizing hormone resistance (LHR) [MIM:238320]
22516 P22888 (LHCGR) N S 284 - Benign
22517 P22888 (LHCGR) N S 291 rs12470652 Benign
22518 P22888 (LHCGR) S N 306 - Benign
22519 P22888 (LHCGR) N S 312 rs2293275 Benign
22520 P22888 (LHCGR) C S 343 rs121912536 Disease: Luteinizing hormone resistance (LHR) [MIM:238320]
22521 P22888 (LHCGR) E K 354 rs121912529 Disease: Luteinizing hormone resistance (LHR) [MIM:238320]
22522 P22888 (LHCGR) L P 368 rs121912533 Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22523 P22888 (LHCGR) A V 373 rs121912528 Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22524 P22888 (LHCGR) M T 398 rs121912526 Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22525 P22888 (LHCGR) L R 457 rs121912535 Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22526 P22888 (LHCGR) L P 502 rs121912538 Disease: Luteinizing hormone resistance (LHR) [MIM:238320]
22527 P22888 (LHCGR) I L 542 rs121912531 Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22528 P22888 (LHCGR) C R 543 rs121912537 Disease: Luteinizing hormone resistance (LHR) [MIM:238320]
22529 P22888 (LHCGR) D G 564 rs121912540 Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22530 P22888 (LHCGR) A V 568 rs121912534 Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22531 P22888 (LHCGR) M I 571 rs121912519 Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22532 P22888 (LHCGR) A V 572 rs121912522 Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22533 P22888 (LHCGR) I L 575 - Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22534 P22888 (LHCGR) T I 577 rs121912521 Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22535 P22888 (LHCGR) D E 578 - Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22536 P22888 (LHCGR) D G 578 rs121912518 Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22537 P22888 (LHCGR) D Y 578 rs121912532 Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22538 P22888 (LHCGR) C R 581 - Disease: Familial male precocious puberty (FMPP) [MIM:176410]
22539 P22888 (LHCGR) A P 593 rs121912520 Disease: Luteinizing hormone resistance (LHR) [MIM:238320]
22540 P22888 (LHCGR) S Y 616 rs121912525 Disease: Luteinizing hormone resistance (LHR) [MIM:238320]
22541 P22888 (LHCGR) I K 625 rs121912530 Disease: Luteinizing hormone resistance (LHR) [MIM:238320]
22542 P22891 (PROZ) E K 70 rs3024778 Benign
22543 P22891 (PROZ) R H 295 rs3024772 Benign
22544 P22894 (MMP8) S C 3 rs17099450 Benign
22545 P22894 (MMP8) T I 32 rs3765620 Benign
22546 P22894 (MMP8) K E 87 rs1940475 Benign
22547 P22894 (MMP8) G E 154 rs35056226 Benign
22548 P22894 (MMP8) D V 193 rs34428739 Benign
22549 P22894 (MMP8) N Y 246 rs35243553 Benign
22550 P22894 (MMP8) V A 436 rs34009635 Benign
22551 P22894 (MMP8) K T 460 rs35866072 Benign
22552 P22897 (MRC1) T I 167 rs2296414 Benign
22553 P22897 (MRC1) G S 396 rs1926736 Benign
22554 P22897 (MRC1) T A 399 rs71497223 Benign
22555 P22897 (MRC1) L F 407 rs2437257 Benign
22556 P22914 (CRYGS) G V 18 rs104893736 Disease: Cataract 20, multiple types (CTRCT20) [MIM:116100]
22557 P23025 (XPA) P L 94 - Disease: Xeroderma pigmentosum complementat ion group A (XP-A) [MIM:278700]
22558 P23025 (XPA) V I 97 rs10983315 Benign
22559 P23025 (XPA) C F 108 rs104894131 Disease: Xeroderma pigmentosum complementat ion group A (XP-A) [MIM:278700]
22560 P23025 (XPA) R K 130 rs1324310300 Disease: Xeroderma pigmentosum complementat ion group A (XP-A) [MIM:278700]
22561 P23025 (XPA) Q H 185 rs746617574 Disease: Xeroderma pigmentosum complementat ion group A (XP-A) [MIM:278700]
22562 P23025 (XPA) R Q 228 rs1805160 Benign
22563 P23025 (XPA) V L 234 rs3176749 Benign
22564 P23025 (XPA) H R 244 rs144725456 Disease: Xeroderma pigmentosum complementat ion group A (XP-A) [MIM:278700]
22565 P23025 (XPA) L V 252 rs3176750 Benign
22566 P23025 (XPA) M V 256 rs57519506 Benign
22567 P23083 (IGHV1-2) W R 69 - Benign
22568 P23083 (IGHV1-2) W R 86 - Benign
22569 P23083 (IGHV1-2) M S 89 - Benign
22570 P23083 (IGHV1-2) A V 111 - Benign
22571 P23109 (AMPD1) E K 55 rs2273268 Benign
22572 P23109 (AMPD1) P L 81 rs61752479 Benign
22573 P23109 (AMPD1) R W 421 rs35859650 Disease: Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511]
22574 P23109 (AMPD1) R H 458 rs121912682 Disease: Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511]
22575 P23141 (CES1) S N 75 rs2307240 Benign
22576 P23141 (CES1) G E 143 rs71647871 Benign
22577 P23141 (CES1) R H 199 rs2307243 Benign
22578 P23141 (CES1) D E 203 rs2307227 Benign
22579 P23142 (FBLN1) Q R 141 rs136730 Benign
22580 P23142 (FBLN1) C S 509 rs1802787 Benign
22581 P23142 (FBLN1) H R 695 rs13268 Benign
22582 P23219 (PTGS1) W R 8 rs1236913 Benign
22583 P23219 (PTGS1) P L 17 rs3842787 Benign
22584 P23219 (PTGS1) R H 53 rs3842789 Benign
22585 P23219 (PTGS1) R L 149 rs10306140 Benign
22586 P23219 (PTGS1) K T 185 rs3842792 Benign
22587 P23219 (PTGS1) L M 237 rs5789 Benign
22588 P23219 (PTGS1) K R 341 rs3842799 Benign
22589 P23219 (PTGS1) K R 359 rs5791 Benign
22590 P23219 (PTGS1) I V 443 rs5792 Benign
22591 P23219 (PTGS1) V I 481 rs5794 Benign
22592 P23258 (TUBG1) Y C 92 rs398123046 Disease: Cortical dysplasia, complex, with other brain malformation s 4 (CDCBM4) [MIM:615412]
22593 P23258 (TUBG1) T P 331 rs398123047 Disease: Cortical dysplasia, complex, with other brain malformation s 4 (CDCBM4) [MIM:615412]
22594 P23258 (TUBG1) L P 387 rs398123045 Disease: Cortical dysplasia, complex, with other brain malformation s 4 (CDCBM4) [MIM:615412]
22595 P23258 (TUBG1) M V 413 rs13663 Benign
22596 P23276 (KEL) A T 163 rs8175974 Benign
22597 P23276 (KEL) R P 180 rs61729039 Benign
22598 P23276 (KEL) T M 193 rs8176058 Benign
22599 P23276 (KEL) R Q 248 rs61729040 Benign
22600 P23276 (KEL) E K 249 rs61729042 Benign
22601 P23276 (KEL) R Q 281 rs61729036 Benign
22602 P23276 (KEL) R W 281 rs8176059 Benign
22603 P23276 (KEL) V A 302 rs61729034 Benign
22604 P23276 (KEL) A V 322 rs61729037 Benign
22605 P23276 (KEL) Q R 382 rs61729038 Benign
22606 P23276 (KEL) R Q 406 rs61729041 Benign
22607 P23276 (KEL) R Q 492 rs61729035 Benign
22608 P23276 (KEL) E V 494 rs61729032 Benign
22609 P23276 (KEL) H R 548 rs61729033 Benign
22610 P23276 (KEL) L P 597 rs8176038 Benign
22611 P23276 (KEL) S A 726 rs8176048 Benign
22612 P23280 (CA6) Q L 37 rs34265054 Benign
22613 P23280 (CA6) T M 55 rs2274327 Benign
22614 P23280 (CA6) R W 58 rs58800854 Benign
22615 P23280 (CA6) M L 68 rs2274328 Benign
22616 P23280 (CA6) G A 70 rs2274329 Benign
22617 P23280 (CA6) S G 90 rs2274333 Benign
22618 P23284 (PPIB) M R 9 rs137853864 Disease: Osteogenesis imperfecta 9 (OI9) [MIM:259440]
22619 P23284 (PPIB) V L 60 rs11558595 Benign
22620 P23327 (HRC) S N 43 rs3745298 Benign
22621 P23327 (HRC) S A 96 rs3745297 Benign
22622 P23352 (ANOS1) C G 134 - Disease: Hypogonadotr opic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
22623 P23352 (ANOS1) C R 163 - Disease: Hypogonadotr opic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
22624 P23352 (ANOS1) C Y 163 - Disease: Hypogonadotr opic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
22625 P23352 (ANOS1) C R 172 rs1394625082 Disease: Hypogonadotr opic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
22626 P23352 (ANOS1) Y D 217 - Disease: -
22627 P23352 (ANOS1) R P 262 - Disease: Hypogonadotr opic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
22628 P23352 (ANOS1) N K 267 - Disease: Hypogonadotr opic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
22629 P23352 (ANOS1) N S 304 rs140812865 Disease: Hypogonadotr opic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
22630 P23352 (ANOS1) S L 396 rs137852517 Disease: Hypogonadotr opic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
22631 P23352 (ANOS1) E K 514 rs137852515 Disease: Hypogonadotr opic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
22632 P23352 (ANOS1) F L 517 - Disease: Hypogonadotr opic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
22633 P23352 (ANOS1) V I 534 rs808119 Benign
22634 P23352 (ANOS1) E K 539 rs144586521 Disease: Hypogonadotr opic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
22635 P23352 (ANOS1) W R 571 rs1170543613 Disease: Hypogonadotr opic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
22636 P23352 (ANOS1) V L 587 rs137900287 Disease: Hypogonadotr opic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
22637 P23352 (ANOS1) K M 666 - Benign
22638 P23352 (ANOS1) R H 668 rs775708192 Benign
22639 P23352 (ANOS1) H R 672 rs199771303 Disease: Hypogonadotr opic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
22640 P23368 (ME2) P L 114 rs16952692 Benign
22641 P23368 (ME2) G E 450 rs649224 Benign
22642 P23378 (GLDC) T K 146 rs376578742 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22643 P23378 (GLDC) L P 173 - Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22644 P23378 (GLDC) P A 267 rs1554648117 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22645 P23378 (GLDC) A P 283 rs386833589 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22646 P23378 (GLDC) P T 329 rs386833593 Benign
22647 P23378 (GLDC) R C 362 rs10975674 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22648 P23378 (GLDC) R W 373 rs150171524 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22649 P23378 (GLDC) K E 376 rs774093619 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22650 P23378 (GLDC) R W 461 rs761957837 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22651 P23378 (GLDC) R S 515 rs121964976 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22652 P23378 (GLDC) L P 548 - Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22653 P23378 (GLDC) S I 564 rs121964974 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22654 P23378 (GLDC) H Y 580 - Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22655 P23378 (GLDC) P R 581 rs772871471 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22656 P23378 (GLDC) A D 624 - Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22657 P23378 (GLDC) G D 763 rs1374110692 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22658 P23378 (GLDC) G E 768 - Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22659 P23378 (GLDC) R W 790 rs386833556 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22660 P23378 (GLDC) Y C 839 - Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22661 P23378 (GLDC) D H 866 - Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22662 P23378 (GLDC) V G 905 rs188269735 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22663 P23378 (GLDC) I T 933 rs758029533 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22664 P23378 (GLDC) G R 994 rs1406713104 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
22665 P23381 (WARS1) A S 54 rs2234521 Benign
22666 P23381 (WARS1) H R 257 - Disease: Neuronopathy , distal hereditary motor, 9 (HMN9) [MIM:617721]
22667 P23381 (WARS1) A S 443 rs139914390 Benign
22668 P23409 (MYF6) A D 90 rs138296448 Benign
22669 P23415 (GLRA1) R W 93 rs199547699 Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22670 P23415 (GLRA1) R C 100 - Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22671 P23415 (GLRA1) R W 246 rs751659671 Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22672 P23415 (GLRA1) Q E 254 - Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22673 P23415 (GLRA1) P S 258 - Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22674 P23415 (GLRA1) I N 272 rs121918409 Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22675 P23415 (GLRA1) P T 278 rs121918413 Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22676 P23415 (GLRA1) R H 280 rs281864918 Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22677 P23415 (GLRA1) Q H 294 rs121918411 Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22678 P23415 (GLRA1) R L 299 rs121918408 Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22679 P23415 (GLRA1) R Q 299 rs121918408 Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22680 P23415 (GLRA1) K E 304 rs121918412 Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22681 P23415 (GLRA1) Y C 307 rs121918410 Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22682 P23415 (GLRA1) V M 308 - Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22683 P23415 (GLRA1) L P 319 - Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22684 P23415 (GLRA1) D A 424 - Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22685 P23415 (GLRA1) R H 428 rs281864919 Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22686 P23415 (GLRA1) R H 450 rs200130685 Disease: Hyperekplexi a 1 (HKPX1) [MIM:149400]
22687 P23434 (GCSH) S L 21 rs8052579 Benign
22688 P23434 (GCSH) N S 73 rs8177877 Benign
22689 P23443 (RPS6KB1) M I 225 - Benign
22690 P23443 (RPS6KB1) R C 272 rs766645749 Benign
22691 P23443 (RPS6KB1) W C 276 - Benign
22692 P23443 (RPS6KB1) S A 398 - Benign
22693 P23458 (JAK1) N K 973 rs34680086 Benign
22694 P23467 (PTPRB) R K 94 rs2252784 Benign
22695 P23467 (PTPRB) S G 127 rs2465811 Benign
22696 P23467 (PTPRB) V A 395 rs36027530 Benign
22697 P23467 (PTPRB) D E 415 rs2165627 Benign
22698 P23467 (PTPRB) T M 939 rs2304821 Benign
22699 P23467 (PTPRB) T I 1032 rs34902691 Benign
22700 P23467 (PTPRB) G A 1934 rs17226367 Benign
22701 P23468 (PTPRD) Q E 447 rs10977171 Benign
22702 P23468 (PTPRD) R C 995 rs35929428 Benign
22703 P23468 (PTPRD) E D 1078 rs7869444 Benign
22704 P23470 (PTPRG) Y H 92 rs62620047 Benign
22705 P23470 (PTPRG) G S 574 rs2292245 Benign
22706 P23470 (PTPRG) Q R 639 rs9870460 Benign
22707 P23471 (PTPRZ1) I S 3 rs740965 Benign
22708 P23471 (PTPRZ1) R L 6 rs11980387 Benign
22709 P23471 (PTPRZ1) G D 1433 rs1147504 Benign
22710 P23490 (LORICRIN) S G 29 rs6661601 Benign
22711 P23490 (LORICRIN) S F 285 rs56816110 Benign
22712 P23497 (SP100) M V 433 rs12724 Benign
22713 P23497 (SP100) S P 471 - Benign
22714 P23497 (SP100) E G 699 rs34700604 Benign
22715 P23508 (MCC) E K 142 rs185322500 Benign
22716 P23508 (MCC) K R 190 rs6594681 Benign
22717 P23508 (MCC) S C 751 rs17313892 Benign
22718 P23515 (OMG) G D 21 rs11080149 Benign
22719 P23515 (OMG) V A 435 rs16972169 Benign
22720 P23526 (AHCY) R W 38 rs13043752 Benign
22721 P23526 (AHCY) R C 49 rs369428934 Disease: Hypermethion inemia with S-adenosylho mocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
22722 P23526 (AHCY) D N 86 - Benign
22723 P23526 (AHCY) D G 86 rs773162208 Disease: Hypermethion inemia with S-adenosylho mocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
22724 P23526 (AHCY) A V 89 rs755222515 Disease: Hypermethion inemia with S-adenosylho mocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
22725 P23526 (AHCY) Y C 143 rs121918608 Disease: Hypermethion inemia with S-adenosylho mocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
22726 P23560 (BDNF) T I 2 rs8192466 Disease: Congenital central hypoventilat ion syndrome (CCHS) [MIM:209880]
22727 P23560 (BDNF) V M 66 rs6265 Benign
22728 P23560 (BDNF) Q H 75 rs1048218 Benign
22729 P23560 (BDNF) R M 125 rs1048220 Benign
22730 P23560 (BDNF) R L 127 rs1048221 Benign
22731 P23582 (NPPC) R Q 82 rs5267 Benign
22732 P23743 (DGKA) H Y 538 rs17852990 Benign
22733 P23759 (PAX7) R C 56 - Disease: Myopathy, congenital, progressive, with scoliosis (MYOSCO) [MIM:618578]
22734 P23760 (PAX3) F L 45 - Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22735 P23760 (PAX3) N H 47 rs104893653 Disease: Waardenburg syndrome 3 (WS3) [MIM:148820]
22736 P23760 (PAX3) N K 47 rs104893652 Disease: Craniofacial -deafness- hand syndrome (CDHS) [MIM:122880]
22737 P23760 (PAX3) G R 48 rs1419548558 Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22738 P23760 (PAX3) P L 50 rs104893650 Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22739 P23760 (PAX3) R L 56 rs267606931 Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22740 P23760 (PAX3) I F 59 - Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22741 P23760 (PAX3) I N 59 - Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22742 P23760 (PAX3) V M 60 - Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22743 P23760 (PAX3) M V 62 - Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22744 P23760 (PAX3) S L 73 rs1553593928 Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22745 P23760 (PAX3) V M 78 - Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22746 P23760 (PAX3) H D 80 rs387906947 Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22747 P23760 (PAX3) G A 81 rs587776586 Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22748 P23760 (PAX3) S F 84 rs104893651 Disease: Waardenburg syndrome 3 (WS3) [MIM:148820]
22749 P23760 (PAX3) K E 85 - Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22750 P23760 (PAX3) Y H 90 rs104893654 Disease: Waardenburg syndrome 3 (WS3) [MIM:148820]
22751 P23760 (PAX3) G D 99 rs1189463428 Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22752 P23760 (PAX3) L P 234 - Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22753 P23760 (PAX3) F S 238 - Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22754 P23760 (PAX3) V F 265 - Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22755 P23760 (PAX3) W C 266 - Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22756 P23760 (PAX3) R C 270 rs1228590199 Disease: Waardenburg syndrome 3 (WS3) [MIM:148820]
22757 P23760 (PAX3) R C 271 rs1380858784 Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22758 P23760 (PAX3) R G 271 - Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22759 P23760 (PAX3) R H 271 rs774528745 Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22760 P23760 (PAX3) T K 315 rs2234675 Benign
22761 P23760 (PAX3) Q H 391 - Disease: Waardenburg syndrome 1 (WS1) [MIM:193500]
22762 P23769 (GATA2) A T 164 rs2335052 Benign
22763 P23769 (GATA2) T N 235 rs35079193 Benign
22764 P23769 (GATA2) P L 254 rs387906630 Disease: Immunodefici ency 21 (IMD21) [MIM:614172]
22765 P23769 (GATA2) T M 354 rs387906631 Disease: Myelodysplas tic syndrome (MDS) [MIM:614286]
22766 P23769 (GATA2) R P 361 - Disease: Lymphedema, primary, with myelodysplas ia (LMPM) [MIM:614038]
22767 P23769 (GATA2) C R 373 rs387906633 Disease: Lymphedema, primary, with myelodysplas ia (LMPM) [MIM:614038]
22768 P23769 (GATA2) R W 398 rs387906629 Disease: Immunodefici ency 21 (IMD21) [MIM:614172]
22769 P23771 (GATA3) G S 242 rs11567901 Benign
22770 P23771 (GATA3) W R 274 rs104894163 Disease: Hypoparathyr oidism, sensorineura l deafness, and renal disease (HDR) [MIM:146255]
22771 P23771 (GATA3) R Q 298 - Disease: Hypoparathyr oidism, sensorineura l deafness, and renal disease (HDR) [MIM:146255]
22772 P23786 (CPT2) P H 50 rs28936375 Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22773 P23786 (CPT2) S L 113 rs74315294 Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22774 P23786 (CPT2) R Q 151 rs515726177 Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22775 P23786 (CPT2) E K 174 rs28936674 Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22776 P23786 (CPT2) Y D 210 - Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22777 P23786 (CPT2) D G 213 rs74315300 Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22778 P23786 (CPT2) M T 214 rs515726174 Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22779 P23786 (CPT2) P L 227 rs74315298 Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22780 P23786 (CPT2) R Q 296 rs764849762 Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22781 P23786 (CPT2) F C 352 rs2229291 Benign
22782 P23786 (CPT2) V I 368 rs1799821 Benign
22783 P23786 (CPT2) F Y 383 rs74315295 Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22784 P23786 (CPT2) F L 448 rs74315297 Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22785 P23786 (CPT2) Y F 479 rs749895856 Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22786 P23786 (CPT2) R C 503 rs74315296 Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22787 P23786 (CPT2) P L 504 rs368311455 Benign
22788 P23786 (CPT2) G D 549 rs186044004 Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22789 P23786 (CPT2) Q R 550 - Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22790 P23786 (CPT2) D N 553 rs28936376 Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22791 P23786 (CPT2) S C 588 rs1871748 Benign
22792 P23786 (CPT2) G R 600 - Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22793 P23786 (CPT2) P S 604 - Disease: Carnitine palmitoyltra nsferase 2 deficiency, myopathic, stress- induced (CPT2D) [MIM:255110]
22794 P23786 (CPT2) V L 605 rs751557097 Benign
22795 P23786 (CPT2) Y S 628 rs28936673 Disease: Carnitine palmitoyltra nsferase 2 deficiency, infantile (CPT2DI) [MIM:600649]
22796 P23786 (CPT2) R C 631 rs74315293 Disease: Carnitine palmitoyltra nsferase 2 deficiency, infantile (CPT2DI) [MIM:600649]
22797 P23786 (CPT2) M V 647 rs1799822 Benign
22798 P23921 (RRM1) K Q 590 rs2228123 Benign
22799 P23921 (RRM1) V A 778 rs2229196 Benign
22800 P23942 (PRPH2) R W 13 rs61754402 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22801 P23942 (PRPH2) I V 32 rs61755767 Benign
22802 P23942 (PRPH2) L F 45 rs61755770 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22803 P23942 (PRPH2) G R 68 rs61755774 Disease: Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
22804 P23942 (PRPH2) R W 123 rs563581127 Disease: Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105]
22805 P23942 (PRPH2) L P 126 - Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22806 P23942 (PRPH2) L R 126 - Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22807 P23942 (PRPH2) G S 137 rs781256236 Benign
22808 P23942 (PRPH2) Y C 141 rs61755781 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22809 P23942 (PRPH2) R W 142 rs61755783 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22810 P23942 (PRPH2) K R 153 rs61755785 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22811 P23942 (PRPH2) D N 157 rs61755787 Disease: Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
22812 P23942 (PRPH2) C Y 165 rs61755788 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22813 P23942 (PRPH2) G D 167 rs61755789 Disease: Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
22814 P23942 (PRPH2) G S 167 rs527236098 Disease: Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
22815 P23942 (PRPH2) R Q 172 rs61755793 Benign
22816 P23942 (PRPH2) R W 172 rs61755792 Benign
22817 P23942 (PRPH2) R G 172 rs61755792 Disease: Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
22818 P23942 (PRPH2) D V 173 rs61755794 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22819 P23942 (PRPH2) Y S 184 rs62645926 Benign
22820 P23942 (PRPH2) L P 185 rs121918563 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22821 P23942 (PRPH2) R L 195 rs121918567 Disease: Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105]
22822 P23942 (PRPH2) S R 198 - Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22823 P23942 (PRPH2) G D 208 rs139185976 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22824 P23942 (PRPH2) V I 209 rs753657349 Disease: Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]
22825 P23942 (PRPH2) P L 210 rs61755798 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22826 P23942 (PRPH2) P R 210 rs61755798 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22827 P23942 (PRPH2) P S 210 rs61755797 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22828 P23942 (PRPH2) F L 211 rs61755799 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22829 P23942 (PRPH2) S G 212 rs61755800 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22830 P23942 (PRPH2) S T 212 rs61755801 Disease: Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]
22831 P23942 (PRPH2) C F 213 - Disease: Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]
22832 P23942 (PRPH2) C R 213 rs61755802 Disease: Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
22833 P23942 (PRPH2) C S 214 rs61755804 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22834 P23942 (PRPH2) P A 216 - Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22835 P23942 (PRPH2) P L 216 rs61755806 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22836 P23942 (PRPH2) P R 216 - Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22837 P23942 (PRPH2) P S 216 rs61755805 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22838 P23942 (PRPH2) P R 219 rs61755808 Benign
22839 P23942 (PRPH2) R Q 220 rs61755810 Disease: Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
22840 P23942 (PRPH2) R W 220 rs61755809 Disease: Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]
22841 P23942 (PRPH2) P L 221 - Disease: Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105]
22842 P23942 (PRPH2) N H 244 rs61755815 Benign
22843 P23942 (PRPH2) N K 244 rs61755816 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22844 P23942 (PRPH2) G S 249 - Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22845 P23942 (PRPH2) G D 266 rs62645935 Disease: Retinitis pigmentosa 7 (RP7) [MIM:608133]
22846 P23942 (PRPH2) V I 268 rs62645936 Disease: Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]
22847 P23942 (PRPH2) E Q 304 rs390659 Benign
22848 P23942 (PRPH2) G D 305 rs61748432 Disease: Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]
22849 P23942 (PRPH2) K R 310 rs425876 Benign
22850 P23942 (PRPH2) P L 313 rs61748434 Benign
22851 P23942 (PRPH2) G D 338 rs434102 Benign
22852 P23945 (FSHR) S Y 128 rs121909665 Disease: Ovarian hyperstimula tion syndrome (OHSS) [MIM:608115]
22853 P23945 (FSHR) I T 160 - Disease: Ovarian dysgenesis 1 (ODG1) [MIM:233300]
22854 P23945 (FSHR) A V 189 - Disease: Ovarian dysgenesis 1 (ODG1) [MIM:233300]
22855 P23945 (FSHR) D V 224 - Disease: Ovarian dysgenesis 1 (ODG1) [MIM:233300]
22856 P23945 (FSHR) A T 307 rs6165 Benign
22857 P23945 (FSHR) P R 348 - Disease: Ovarian dysgenesis 1 (ODG1) [MIM:233300]
22858 P23945 (FSHR) A T 419 - Disease: Ovarian dysgenesis 1 (ODG1) [MIM:233300]
22859 P23945 (FSHR) T A 449 - Disease: Ovarian hyperstimula tion syndrome (OHSS) [MIM:608115]
22860 P23945 (FSHR) T I 449 rs28928870 Disease: Ovarian hyperstimula tion syndrome (OHSS) [MIM:608115]
22861 P23945 (FSHR) M I 512 - Disease: Ovarian hyperstimula tion syndrome (OHSS) [MIM:608115]
22862 P23945 (FSHR) V A 514 - Disease: Ovarian hyperstimula tion syndrome (OHSS) [MIM:608115]
22863 P23945 (FSHR) P T 519 - Disease: Ovarian dysgenesis 1 (ODG1) [MIM:233300]
22864 P23945 (FSHR) S R 524 rs6167 Benign
22865 P23945 (FSHR) I T 545 - Disease: Ovarian hyperstimula tion syndrome (OHSS) [MIM:608115]
22866 P23945 (FSHR) D N 567 rs28928871 Disease: Ovarian hyperstimula tion syndrome (OHSS) [MIM:608115]
22867 P23945 (FSHR) R C 573 - Disease: Ovarian dysgenesis 1 (ODG1) [MIM:233300]
22868 P23945 (FSHR) A V 575 - Disease: Ovarian hyperstimula tion syndrome (OHSS) [MIM:608115]
22869 P23945 (FSHR) L V 601 - Disease: Ovarian dysgenesis 1 (ODG1) [MIM:233300]
22870 P23945 (FSHR) N S 680 rs6166 Benign
22871 P23946 (CMA1) G R 46 rs5246 Benign
22872 P23946 (CMA1) H R 66 rs5247 Benign
22873 P23946 (CMA1) R H 98 rs13306252 Benign
22874 P23975 (SLC6A2) N K 7 rs11568323 Benign
22875 P23975 (SLC6A2) V I 69 rs1805064 Benign
22876 P23975 (SLC6A2) T I 99 rs1805065 Benign
22877 P23975 (SLC6A2) V I 245 rs1805066 Benign
22878 P23975 (SLC6A2) T R 283 rs45564432 Benign
22879 P23975 (SLC6A2) N T 292 rs5563 Benign
22880 P23975 (SLC6A2) V L 356 rs5565 Benign
22881 P23975 (SLC6A2) A P 369 rs5566 Benign
22882 P23975 (SLC6A2) N S 375 rs5567 Benign
22883 P23975 (SLC6A2) V I 449 rs2234910 Benign
22884 P23975 (SLC6A2) A P 457 rs121918126 Disease: Orthostatic intolerance (OI) [MIM:604715]
22885 P23975 (SLC6A2) K R 463 rs5570 Benign
22886 P23975 (SLC6A2) G S 478 rs1805067 Benign
22887 P23975 (SLC6A2) F C 528 rs5558 Benign
22888 P23975 (SLC6A2) Y H 548 rs5559 Benign
22889 P23975 (SLC6A2) I T 549 rs3743788 Benign
22890 P24001 (IL32) D N 152 - Benign
22891 P24043 (LAMA2) R S 96 rs34626728 Benign
22892 P24043 (LAMA2) W G 152 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138]
22893 P24043 (LAMA2) C S 199 rs886043693 Benign
22894 P24043 (LAMA2) Y H 240 rs3778142 Benign
22895 P24043 (LAMA2) L P 243 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138]
22896 P24043 (LAMA2) G R 284 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138]
22897 P24043 (LAMA2) C Y 527 rs121913574 Disease: Merosin- deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]
22898 P24043 (LAMA2) L Q 545 rs118083923 Benign
22899 P24043 (LAMA2) R H 619 rs3816665 Benign
22900 P24043 (LAMA2) H D 644 rs35879899 Benign
22901 P24043 (LAMA2) C R 862 rs121913573 Disease: Merosin- deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]
22902 P24043 (LAMA2) R L 919 rs35277491 Benign
22903 P24043 (LAMA2) V M 1138 rs2306942 Benign
22904 P24043 (LAMA2) T A 1205 rs35889149 Benign
22905 P24043 (LAMA2) W G 1311 - Disease: Merosin- deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]
22906 P24043 (LAMA2) A V 1496 rs147077184 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138]
22907 P24043 (LAMA2) K Q 1561 rs4143752 Benign
22908 P24043 (LAMA2) A T 1945 rs3828736 Benign
22909 P24043 (LAMA2) R S 2477 rs34367843 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138]
22910 P24043 (LAMA2) L P 2564 rs121913570 Disease: Merosin- deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]
22911 P24043 (LAMA2) Y H 2586 - Benign
22912 P24043 (LAMA2) A V 2587 rs2229848 Benign
22913 P24043 (LAMA2) E K 2614 - Benign
22914 P24043 (LAMA2) G A 2633 - Disease: Merosin- deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]
22915 P24043 (LAMA2) T A 2636 rs2244008 Benign
22916 P24043 (LAMA2) G R 2889 rs886039896 Disease: Merosin- deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]
22917 P24043 (LAMA2) T A 3029 rs34551216 Benign
22918 P24046 (GABRR1) M V 26 rs12200969 Benign
22919 P24046 (GABRR1) H R 27 rs1186902 Benign
22920 P24071 (FCAR) D N 113 rs11666735 Benign
22921 P24071 (FCAR) S G 269 rs16986050 Benign
22922 P24158 (PRTN3) V I 119 rs351111 Benign
22923 P24158 (PRTN3) A T 135 rs1042281 Benign
22924 P24158 (PRTN3) T S 136 rs1042282 Benign
22925 P24298 (GPT) H N 14 rs1063739 Benign
22926 P24347 (MMP11) A V 38 rs738792 Benign
22927 P24347 (MMP11) E K 44 rs28363646 Benign
22928 P24347 (MMP11) P L 61 rs28363647 Benign
22929 P24347 (MMP11) S P 86 rs28363648 Benign
22930 P24347 (MMP11) F S 182 rs17854940 Benign
22931 P24386 (CHM) Q L 471 - Disease: Choroideremi a (CHM) [MIM:303100]
22932 P24386 (CHM) H R 507 rs397514603 Disease: Choroideremi a (CHM) [MIM:303100]
22933 P24386 (CHM) L P 550 - Disease: Choroideremi a (CHM) [MIM:303100]
22934 P24394 (IL4R) I F 75 rs1805010 Benign
22935 P24394 (IL4R) I L 75 rs1805010 Benign
22936 P24394 (IL4R) I V 75 rs1805010 Benign
22937 P24394 (IL4R) S L 387 rs6413500 Benign
22938 P24394 (IL4R) E A 400 rs1805011 Benign
22939 P24394 (IL4R) C R 431 rs1805012 Benign
22940 P24394 (IL4R) S L 436 rs1805013 Benign
22941 P24394 (IL4R) A T 492 rs35606110 Benign
22942 P24394 (IL4R) A V 492 rs34727572 Benign
22943 P24394 (IL4R) S P 503 rs1805015 Benign
22944 P24394 (IL4R) Q R 576 rs1801275 Benign
22945 P24394 (IL4R) V I 579 rs3024677 Benign
22946 P24394 (IL4R) P S 675 rs3024678 Benign
22947 P24394 (IL4R) S A 752 rs1805016 Benign
22948 P24394 (IL4R) S P 786 rs1805014 Benign
22949 P24462 (CYP3A7) V A 71 rs45580339 Benign
22950 P24462 (CYP3A7) T R 409 rs2257401 Benign
22951 P24468 (NR2F2) D V 170 - Disease: Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779]
22952 P24468 (NR2F2) N I 205 rs587777372 Disease: Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779]
22953 P24468 (NR2F2) E D 251 - Disease: Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779]
22954 P24468 (NR2F2) S Y 341 rs587777371 Disease: Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779]
22955 P24468 (NR2F2) A S 412 rs201527820 Disease: Congenital heart defects, multiple types, 4 (CHTD4) [MIM:615779]
22956 P24530 (EDNRB) P T 5 rs12720160 Benign
22957 P24530 (EDNRB) L Q 7 rs5345 Benign
22958 P24530 (EDNRB) L F 17 rs5346 Benign
22959 P24530 (EDNRB) L P 17 - Disease: -
22960 P24530 (EDNRB) G S 57 rs1801710 Benign
22961 P24530 (EDNRB) R M 76 rs2228271 Benign
22962 P24530 (EDNRB) F V 112 rs5347 Benign
22963 P24530 (EDNRB) N Y 137 - Disease: -
22964 P24530 (EDNRB) P R 156 - Disease: -
22965 P24530 (EDNRB) A G 183 rs104894388 Disease: Waardenburg syndrome 4A (WS4A) [MIM:277580]
22966 P24530 (EDNRB) T M 244 rs5350 Benign
22967 P24530 (EDNRB) W C 276 rs104894387 Disease: Hirschsprung disease 2 (HSCR2) [MIM:600155]
22968 P24530 (EDNRB) F L 292 - Disease: Waardenburg syndrome 4A (WS4A) [MIM:277580]
22969 P24530 (EDNRB) S N 305 rs5352 Benign
22970 P24530 (EDNRB) R W 319 rs200363611 Disease: Hirschsprung disease 2 (HSCR2) [MIM:600155]
22971 P24530 (EDNRB) M I 374 - Disease: Hirschsprung disease 2 (HSCR2) [MIM:600155]
22972 P24530 (EDNRB) P L 383 - Disease: Hirschsprung disease 2 (HSCR2) [MIM:600155]
22973 P24539 (ATP5PB) T M 152 rs1264895 Benign
22974 P24539 (ATP5PB) T N 152 rs1264895 Benign
22975 P24557 (TBXAS1) R H 60 rs6138 Benign
22976 P24557 (TBXAS1) L P 70 rs13306050 Benign
22977 P24557 (TBXAS1) L V 70 rs4529 Benign
22978 P24557 (TBXAS1) L P 82 rs140005285 Disease: Ghosal hematodiaphy seal dysplasia (GHDD) [MIM:231095]
22979 P24557 (TBXAS1) V I 124 rs8192833 Benign
22980 P24557 (TBXAS1) D E 160 rs5768 Benign
22981 P24557 (TBXAS1) L I 162 rs6137 Benign
22982 P24557 (TBXAS1) N S 245 rs55856189 Benign
22983 P24557 (TBXAS1) K E 257 rs5769 Benign
22984 P24557 (TBXAS1) R G 260 rs5770 Benign
22985 P24557 (TBXAS1) Q K 316 rs5771 Benign
22986 P24557 (TBXAS1) I T 331 rs6140 Benign
22987 P24557 (TBXAS1) L V 356 rs4529 Benign
22988 P24557 (TBXAS1) L V 357 rs4529 Benign
22989 P24557 (TBXAS1) E K 387 rs3735354 Benign
22990 P24557 (TBXAS1) E K 388 rs3735354 Benign
22991 P24557 (TBXAS1) G V 389 rs5760 Benign
22992 P24557 (TBXAS1) R Q 412 rs199422117 Disease: Ghosal hematodiaphy seal dysplasia (GHDD) [MIM:231095]
22993 P24557 (TBXAS1) Q E 416 rs4528 Benign
22994 P24557 (TBXAS1) R C 424 rs5762 Benign
22995 P24557 (TBXAS1) A T 429 rs4526 Benign
22996 P24557 (TBXAS1) E K 449 rs8192868 Benign
22997 P24557 (TBXAS1) T N 450 rs5763 Benign
22998 P24557 (TBXAS1) R Q 465 rs41311778 Benign
22999 P24557 (TBXAS1) G W 481 rs199422116 Disease: Ghosal hematodiaphy seal dysplasia (GHDD) [MIM:231095]
23000 P24557 (TBXAS1) L P 487 rs199422114 Disease: Ghosal hematodiaphy seal dysplasia (GHDD) [MIM:231095]
23001 P24557 (TBXAS1) R Q 501 rs8192864 Benign
23002 P24557 (TBXAS1) P L 511 rs13306050 Benign
23003 P24557 (TBXAS1) L P 512 rs13306050 Benign
23004 P24588 (AKAP5) P L 100 rs2230491 Benign
23005 P24588 (AKAP5) T I 203 rs1256149 Benign
23006 P24588 (AKAP5) E K 314 rs34433837 Benign
23007 P24592 (IGFBP6) R G 128 rs9658616 Benign
23008 P24592 (IGFBP6) R L 134 rs34995393 Benign
23009 P24592 (IGFBP6) R Q 217 rs6413498 Benign
23010 P24592 (IGFBP6) T P 236 rs1053134 Benign
23011 P24593 (IGFBP5) R W 138 rs11575194 Benign
23012 P24666 (ACP1) K N 7 rs11691572 Benign
23013 P24666 (ACP1) Q R 106 rs79716074 Benign
23014 P24666 (ACP1) S F 137 rs35569198 Benign
23015 P24723 (PRKCH) A V 19 rs55645551 Benign
23016 P24723 (PRKCH) K R 65 rs55737090 Benign
23017 P24723 (PRKCH) R Q 149 rs55848048 Benign
23018 P24723 (PRKCH) R Q 359 rs55818778 Benign
23019 P24723 (PRKCH) V I 374 rs2230500 Benign
23020 P24723 (PRKCH) D Y 497 rs11846991 Benign
23021 P24723 (PRKCH) T A 575 rs1378993559 Benign
23022 P24723 (PRKCH) P S 612 rs34159231 Benign
23023 P24723 (PRKCH) D V 645 rs35561533 Benign
23024 P24752 (ACAT1) A P 5 rs3741056 Benign
23025 P24752 (ACAT1) N S 93 rs120074145 Disease: 3-ketothiola se deficiency (3KTD) [MIM:203750]
23026 P24752 (ACAT1) G A 152 rs762991875 Disease: 3-ketothiola se deficiency (3KTD) [MIM:203750]
23027 P24752 (ACAT1) N D 158 rs148639841 Disease: 3-ketothiola se deficiency (3KTD) [MIM:203750]
23028 P24752 (ACAT1) G R 183 rs120074141 Disease: 3-ketothiola se deficiency (3KTD) [MIM:203750]
23029 P24752 (ACAT1) T M 297 rs886041122 Disease: 3-ketothiola se deficiency (3KTD) [MIM:203750]
23030 P24752 (ACAT1) A P 301 rs1420321267 Disease: 3-ketothiola se deficiency (3KTD) [MIM:203750]
23031 P24752 (ACAT1) I T 312 rs120074146 Disease: 3-ketothiola se deficiency (3KTD) [MIM:203750]
23032 P24752 (ACAT1) A P 333 rs120074147 Disease: 3-ketothiola se deficiency (3KTD) [MIM:203750]
23033 P24752 (ACAT1) G V 379 rs120074143 Disease: 3-ketothiola se deficiency (3KTD) [MIM:203750]
23034 P24752 (ACAT1) A T 380 rs120074140 Disease: 3-ketothiola se deficiency (3KTD) [MIM:203750]
23035 P24821 (TNC) G S 213 rs7020958 Benign
23036 P24821 (TNC) Q R 539 rs1757095 Benign
23037 P24821 (TNC) V I 605 rs3827816 Benign
23038 P24821 (TNC) Q R 680 rs1061494 Benign
23039 P24821 (TNC) D H 850 rs3748169 Benign
23040 P24821 (TNC) I L 1677 rs2104772 Benign
23041 P24821 (TNC) V M 1773 rs137933052 Disease: Deafness, autosomal dominant, 56 (DFNA56) [MIM:615629]
23042 P24821 (TNC) A T 1781 rs2274750 Benign
23043 P24821 (TNC) T S 1796 rs431905513 Disease: Deafness, autosomal dominant, 56 (DFNA56) [MIM:615629]
23044 P24821 (TNC) E Q 2008 rs13321 Benign
23045 P24855 (DNASE1) R S 2 rs8176927 Benign
23046 P24855 (DNASE1) Q E 31 rs77254040 Benign
23047 P24855 (DNASE1) R G 107 rs8176928 Benign
23048 P24855 (DNASE1) V M 114 rs530214101 Benign
23049 P24855 (DNASE1) G R 127 rs8176919 Benign
23050 P24855 (DNASE1) P A 154 rs1799891 Benign
23051 P24855 (DNASE1) R C 207 rs148373909 Benign
23052 P24855 (DNASE1) C Y 231 rs8176940 Benign
23053 P24855 (DNASE1) R Q 244 rs1053874 Benign
23054 P24855 (DNASE1) A P 246 rs8176939 Benign
23055 P24855 (DNASE1) G D 262 rs8176924 Benign
23056 P24903 (CYP2F1) S P 38 rs58285195 Benign
23057 P24903 (CYP2F1) R P 98 rs57670668 Benign
23058 P24903 (CYP2F1) D N 218 rs305974 Benign
23059 P24903 (CYP2F1) Q H 266 rs75405062 Benign
23060 P24903 (CYP2F1) L P 391 rs144315434 Benign
23061 P24903 (CYP2F1) P L 490 rs7246981 Benign
23062 P24928 (POLR2A) R C 292 rs2229198 Benign
23063 P24928 (POLR2A) T M 736 - Disease: Neurodevelop mental disorder with hypotonia and variable intellectual and behavioral abnormalitie s (NEDHIB) [MIM:618603]
23064 P24928 (POLR2A) L P 1124 - Disease: Neurodevelop mental disorder with hypotonia and variable intellectual and behavioral abnormalitie s (NEDHIB) [MIM:618603]
23065 P24941 (CDK2) Y S 15 rs3087335 Benign
23066 P24941 (CDK2) V L 18 rs11554376 Benign
23067 P24941 (CDK2) T S 290 rs2069413 Benign
23068 P25021 (HRH2) N D 217 - Benign
23069 P25021 (HRH2) K R 231 - Benign
23070 P25021 (HRH2) V M 268 - Benign
23071 P25024 (CXCR1) M R 31 rs16858811 Benign
23072 P25024 (CXCR1) R C 71 rs1805038 Benign
23073 P25024 (CXCR1) M L 268 rs9282752 Benign
23074 P25024 (CXCR1) S T 276 rs2234671 Benign
23075 P25024 (CXCR1) A T 306 rs201583693 Benign
23076 P25024 (CXCR1) R C 335 rs16858808 Benign
23077 P25024 (CXCR1) S L 342 rs16858806 Benign
23078 P25025 (CXCR2) R C 80 rs1805038 Benign
23079 P25054 (APC) S I 171 - Disease: Familial adenomatous polyposis (FAP) [MIM:175100]
23080 P25054 (APC) R C 414 rs137854567 Disease: Familial adenomatous polyposis (FAP) [MIM:175100]
23081 P25054 (APC) S G 722 - Disease: Familial adenomatous polyposis (FAP) [MIM:175100]
23082 P25054 (APC) S T 784 - Disease: Familial adenomatous polyposis (FAP) [MIM:175100]
23083 P25054 (APC) G C 817 - Disease: Gastric cancer (GASC) [MIM:613659]
23084 P25054 (APC) P S 870 rs33974176 Benign
23085 P25054 (APC) I T 880 rs1400295986 Disease: Colorectal carcinoma
23086 P25054 (APC) E G 911 - Disease: Colorectal tumor
23087 P25054 (APC) N D 942 - Disease: Gastric cancer (GASC) [MIM:613659]
23088 P25054 (APC) N D 1118 rs140493115 Benign
23089 P25054 (APC) G E 1120 rs28933379 Disease: Gastric cancer (GASC) [MIM:613659]
23090 P25054 (APC) R C 1171 rs201830995 Benign
23091 P25054 (APC) R H 1171 rs372481703 Disease: Gastric cancer (GASC) [MIM:613659]
23092 P25054 (APC) P L 1176 - Disease: Familial adenomatous polyposis (FAP) [MIM:175100]
23093 P25054 (APC) A P 1184 - Disease: Familial adenomatous polyposis (FAP) [MIM:175100]
23094 P25054 (APC) F S 1197 - Disease: Gastric cancer (GASC) [MIM:613659]
23095 P25054 (APC) I T 1259 - Disease: Gastric cancer (GASC) [MIM:613659]
23096 P25054 (APC) A V 1296 rs1291513037 Disease: Medulloblast oma (MDB) [MIM:155255]
23097 P25054 (APC) I V 1304 rs770157475 Benign
23098 P25054 (APC) I K 1307 rs1801155 Benign
23099 P25054 (APC) G E 1312 - Disease: Gastric cancer (GASC) [MIM:613659]
23100 P25054 (APC) T A 1313 rs863225349 Disease: Colorectal tumor
23101 P25054 (APC) E Q 1317 rs1801166 Benign
23102 P25054 (APC) V A 1326 - Disease: Gastric cancer (GASC) [MIM:613659]
23103 P25054 (APC) R W 1348 - Disease: Familial adenomatous polyposis (FAP) [MIM:175100]
23104 P25054 (APC) S C 1395 rs137854578 Benign
23105 P25054 (APC) V I 1472 rs878853445 Disease: Medulloblast oma (MDB) [MIM:155255]
23106 P25054 (APC) S G 1495 - Disease: Medulloblast oma (MDB) [MIM:155255]
23107 P25054 (APC) T S 1496 rs2229996 Benign
23108 P25054 (APC) V D 1822 rs459552 Benign
23109 P25054 (APC) R T 1882 rs34157245 Benign
23110 P25054 (APC) S T 1973 rs4987109 Benign
23111 P25054 (APC) V L 2499 rs33941929 Benign
23112 P25054 (APC) G S 2502 rs2229995 Benign
23113 P25054 (APC) I T 2738 rs863224552 Benign
23114 P25054 (APC) L F 2839 rs876658156 Disease: Familial adenomatous polyposis (FAP) [MIM:175100]
23115 P25063 (CD24) S T 44 - Benign
23116 P25063 (CD24) A V 57 rs878859113 Benign
23117 P25067 (COL8A2) G R 3 rs115156902 Benign
23118 P25067 (COL8A2) R Q 155 rs75864656 Benign
23119 P25067 (COL8A2) R Q 304 rs369487110 Disease: Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800]
23120 P25067 (COL8A2) R H 434 rs201235688 Disease: Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800]
23121 P25067 (COL8A2) Q K 455 rs80358191 Disease: Corneal dystrophy, posterior polymorphous , 2 (PPCD2) [MIM:609140]
23122 P25067 (COL8A2) T M 502 rs117860804 Benign
23123 P25067 (COL8A2) T I 645 rs200767854 Benign
23124 P25092 (GUCY2C) C R 30 rs56142849 Benign
23125 P25092 (GUCY2C) R Q 114 rs56275235 Benign
23126 P25092 (GUCY2C) F L 281 rs1420635 Benign
23127 P25092 (GUCY2C) D G 387 rs587776905 Disease: Meconium ileus (MECIL) [MIM:614665]
23128 P25092 (GUCY2C) R L 464 rs55684775 Benign
23129 P25092 (GUCY2C) E K 610 rs55897626 Benign
23130 P25092 (GUCY2C) S I 840 rs587776871 Disease: Diarrhea 6 (DIAR6) [MIM:614616]
23131 P25092 (GUCY2C) I V 859 rs34890806 Benign
23132 P25092 (GUCY2C) Q R 1045 rs35617837 Benign
23133 P25092 (GUCY2C) Y C 1072 rs35179392 Benign
23134 P25098 (GRK2) I T 184 rs55696045 Benign
23135 P25101 (EDNRA) Y F 129 rs786205230 Disease: Mandibulofac ial dysostosis with alopecia (MFDA) [MIM:616367]
23136 P25101 (EDNRA) E K 303 rs876657388 Disease: Mandibulofac ial dysostosis with alopecia (MFDA) [MIM:616367]
23137 P25103 (TACR1) Y H 192 rs200685841 Benign
23138 P25105 (PTAFR) A D 224 rs5938 Benign
23139 P25105 (PTAFR) N S 338 rs5939 Benign
23140 P25106 (ACKR3) L W 219 rs10183641 Benign
23141 P25116 (F2R) S G 166 rs5893 Benign
23142 P25116 (F2R) Y N 187 rs2230849 Benign
23143 P25116 (F2R) V L 257 rs2227832 Benign
23144 P25116 (F2R) A P 268 rs1055103 Benign
23145 P25116 (F2R) A V 335 rs17849599 Benign
23146 P25116 (F2R) S Y 412 rs2227799 Benign
23147 P25189 (MPZ) I M 30 rs770546306 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23148 P25189 (MPZ) V F 32 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23149 P25189 (MPZ) T I 34 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23150 P25189 (MPZ) D Y 35 rs121913596 Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, D (CMTDID) [MIM:607791]
23151 P25189 (MPZ) H P 39 rs371856018 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23152 P25189 (MPZ) S F 44 rs121913598 Disease: Charcot- Marie-Tooth disease 2I (CMT2I) [MIM:607677]
23153 P25189 (MPZ) S F 51 rs1553259790 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23154 P25189 (MPZ) S C 54 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23155 P25189 (MPZ) S P 54 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23156 P25189 (MPZ) V F 58 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23157 P25189 (MPZ) D H 60 rs121913604 Disease: Charcot- Marie-Tooth disease 2I (CMT2I) [MIM:607677]
23158 P25189 (MPZ) D G 61 rs786204119 Benign
23159 P25189 (MPZ) I F 62 rs121913602 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23160 P25189 (MPZ) I M 62 rs121913605 Disease: Charcot- Marie-Tooth disease 2I (CMT2I) [MIM:607677]
23161 P25189 (MPZ) S C 63 rs121913585 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23162 P25189 (MPZ) S F 63 rs121913585 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23163 P25189 (MPZ) T A 65 rs1553259760 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23164 P25189 (MPZ) T I 65 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23165 P25189 (MPZ) Y C 68 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23166 P25189 (MPZ) D V 75 rs121913597 Disease: Charcot- Marie-Tooth disease 2J (CMT2J) [MIM:607736]
23167 P25189 (MPZ) S L 78 rs121913601 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23168 P25189 (MPZ) S W 78 rs121913601 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23169 P25189 (MPZ) H Y 81 rs281865123 Benign
23170 P25189 (MPZ) H R 81 rs121913594 Disease: Charcot- Marie-Tooth disease 2I (CMT2I) [MIM:607677]
23171 P25189 (MPZ) Y C 82 rs1553259707 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23172 P25189 (MPZ) I N 89 rs267607244 Disease: Charcot- Marie-Tooth disease 2I (CMT2I) [MIM:607677]
23173 P25189 (MPZ) D E 90 rs121913584 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23174 P25189 (MPZ) V M 92 rs267607245 Disease: Charcot- Marie-Tooth disease 2I (CMT2I) [MIM:607677]
23175 P25189 (MPZ) G E 93 rs1060503418 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23176 P25189 (MPZ) K E 96 rs121913583 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23177 P25189 (MPZ) E V 97 rs121913606 Disease: Charcot- Marie-Tooth disease 2J (CMT2J) [MIM:607736]
23178 P25189 (MPZ) R C 98 rs121913590 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23179 P25189 (MPZ) R H 98 rs121913589 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23180 P25189 (MPZ) R P 98 rs121913589 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23181 P25189 (MPZ) R S 98 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23182 P25189 (MPZ) I T 99 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23183 P25189 (MPZ) W C 101 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23184 P25189 (MPZ) G E 103 rs121913600 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23185 P25189 (MPZ) D N 109 rs1060503420 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23186 P25189 (MPZ) G D 110 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23187 P25189 (MPZ) I T 112 rs1553259662 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23188 P25189 (MPZ) V F 113 rs281865126 Benign
23189 P25189 (MPZ) I T 114 rs267607241 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23190 P25189 (MPZ) N H 116 rs267607242 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23191 P25189 (MPZ) D N 118 - Disease: Charcot- Marie-Tooth disease 2I (CMT2I) [MIM:607677]
23192 P25189 (MPZ) Y C 119 rs879254038 Benign
23193 P25189 (MPZ) N S 122 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23194 P25189 (MPZ) G C 123 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23195 P25189 (MPZ) T K 124 rs121913595 Disease: Neuropathy, congenital hypomyelinat ing, 2 (CHN2) [MIM:618184]
23196 P25189 (MPZ) T M 124 rs121913595 Disease: Charcot- Marie-Tooth disease 2J (CMT2J) [MIM:607736]
23197 P25189 (MPZ) C Y 127 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23198 P25189 (MPZ) D E 128 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23199 P25189 (MPZ) D N 128 rs267607243 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23200 P25189 (MPZ) K R 130 rs281865127 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23201 P25189 (MPZ) N K 131 rs121913599 Disease: Roussy-Levy syndrome (ROULS) [MIM:180800]
23202 P25189 (MPZ) P L 132 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23203 P25189 (MPZ) D E 134 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23204 P25189 (MPZ) D G 134 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23205 P25189 (MPZ) D N 134 rs1553259647 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23206 P25189 (MPZ) I L 135 rs879253858 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23207 P25189 (MPZ) I T 135 rs121913587 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23208 P25189 (MPZ) V E 136 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23209 P25189 (MPZ) G S 137 rs121913588 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23210 P25189 (MPZ) K N 138 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23211 P25189 (MPZ) T N 139 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23212 P25189 (MPZ) S T 140 rs572010627 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23213 P25189 (MPZ) T M 143 rs750724650 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23214 P25189 (MPZ) Y S 145 rs121913603 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23215 P25189 (MPZ) V F 146 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23216 P25189 (MPZ) I M 162 rs267607246 Disease: Charcot- Marie-Tooth disease 2I (CMT2I) [MIM:607677]
23217 P25189 (MPZ) G R 163 rs281865128 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23218 P25189 (MPZ) G A 167 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23219 P25189 (MPZ) G R 167 rs121913586 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23220 P25189 (MPZ) L R 170 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23221 P25189 (MPZ) A T 221 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
23222 P25189 (MPZ) D Y 224 rs267607247 Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23223 P25189 (MPZ) R S 227 - Disease: Charcot- Marie-Tooth disease 1B (CMT1B) [MIM:118200]
23224 P25189 (MPZ) K E 236 - Disease: Charcot- Marie-Tooth disease 2I (CMT2I) [MIM:607677]
23225 P25189 (MPZ) R L 244 rs749722729 Benign
23226 P25205 (MCM3) S G 105 rs2307332 Benign
23227 P25205 (MCM3) D V 280 rs2307329 Benign
23228 P25205 (MCM3) F L 287 rs2307328 Benign
23229 P25205 (MCM3) I L 590 rs17240063 Benign
23230 P25205 (MCM3) R W 774 rs2230239 Benign
23231 P25205 (MCM3) E K 777 rs2230240 Benign
23232 P25391 (LAMA1) L S 349 rs9950267 Benign
23233 P25391 (LAMA1) V I 559 rs16951079 Benign
23234 P25391 (LAMA1) N T 674 rs566655 Benign
23235 P25391 (LAMA1) M V 1340 rs662471 Benign
23236 P25391 (LAMA1) S A 1577 rs12961939 Benign
23237 P25391 (LAMA1) L V 1591 rs596315 Benign
23238 P25391 (LAMA1) K E 1632 rs11872364 Benign
23239 P25391 (LAMA1) D V 1682 rs16950981 Benign
23240 P25391 (LAMA1) A T 1876 rs11664063 Benign
23241 P25391 (LAMA1) K E 2002 rs607230 Benign
23242 P25391 (LAMA1) I T 2076 rs671871 Benign
23243 P25391 (LAMA1) L M 2511 rs60009920 Benign
23244 P25391 (LAMA1) T A 2611 rs543355 Benign
23245 P25440 (BRD2) A G 49 rs3918144 Benign
23246 P25440 (BRD2) A S 49 rs55669504 Benign
23247 P25440 (BRD2) A P 212 rs35952031 Benign
23248 P25440 (BRD2) L F 238 rs176250 Benign
23249 P25440 (BRD2) P Q 260 rs35294809 Benign
23250 P25440 (BRD2) A V 474 rs3918143 Benign
23251 P25440 (BRD2) R K 547 rs1049369 Benign
23252 P25440 (BRD2) A T 569 rs34530779 Benign
23253 P25440 (BRD2) A P 599 rs55952113 Benign
23254 P25445 (FAS) A T 16 rs3218619 Benign
23255 P25445 (FAS) T A 28 - Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23256 P25445 (FAS) C R 82 - Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23257 P25445 (FAS) R W 121 rs121913078 Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23258 P25445 (FAS) T I 122 rs3218614 Benign
23259 P25445 (FAS) I V 184 rs28362322 Benign
23260 P25445 (FAS) Y C 232 rs121913079 Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23261 P25445 (FAS) T K 241 rs201072885 Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23262 P25445 (FAS) T P 241 rs121913076 Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23263 P25445 (FAS) V L 249 - Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23264 P25445 (FAS) R P 250 rs121913080 Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23265 P25445 (FAS) R Q 250 - Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23266 P25445 (FAS) G D 253 - Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23267 P25445 (FAS) G S 253 - Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23268 P25445 (FAS) A D 257 - Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23269 P25445 (FAS) I R 259 - Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23270 P25445 (FAS) D G 260 - Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23271 P25445 (FAS) D V 260 rs28929498 Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23272 P25445 (FAS) D Y 260 rs121913086 Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23273 P25445 (FAS) I S 262 - Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23274 P25445 (FAS) T I 270 rs121913081 Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23275 P25445 (FAS) T K 270 - Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23276 P25445 (FAS) E G 272 - Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23277 P25445 (FAS) E K 272 - Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23278 P25445 (FAS) T I 305 rs3218611 Benign
23279 P25445 (FAS) I S 310 - Disease: Autoimmune lymphoprolif erative syndrome 1A (ALPS1A) [MIM:601859]
23280 P25490 (YY1) L P 366 rs1131692163 Disease: Gabriele-de Vries syndrome (GADEVS) [MIM:617557]
23281 P25490 (YY1) T R 372 rs386834266 Benign
23282 P25490 (YY1) D Y 380 rs1131692043 Disease: Gabriele-de Vries syndrome (GADEVS) [MIM:617557]
23283 P25686 (DNAJB2) Y C 5 rs730882140 Disease: Distal spinal muscular atrophy, autosomal recessive, 5 (DSMA5) [MIM:614881]
23284 P25686 (DNAJB2) G R 270 rs34127289 Benign
23285 P25705 (ATP5F1A) A S 32 rs2228437 Benign
23286 P25705 (ATP5F1A) Y C 321 rs587777788 Disease: Combined oxidative phosphorylat ion deficiency 22 (COXPD22) [MIM:616045]
23287 P25705 (ATP5F1A) R C 329 rs587776960 Disease: Mitochondria l complex V deficiency, nuclear type 4 (MC5DN4) [MIM:615228]
23288 P25774 (CTSS) R W 113 rs2230061 Benign
23289 P25774 (CTSS) S T 161 rs1059604 Benign
23290 P25786 (PSMA1) G V 37 rs17850016 Benign
23291 P25874 (UCP1) A T 64 rs45539933 Benign
23292 P25874 (UCP1) M L 229 rs2270565 Benign
23293 P25929 (NPY1R) K T 374 rs5578 Benign
23294 P25940 (COL5A3) R H 134 rs2303098 Benign
23295 P25940 (COL5A3) R G 322 rs2287803 Benign
23296 P25940 (COL5A3) R P 1042 rs2161468 Benign
23297 P25940 (COL5A3) R P 1207 rs2287813 Benign
23298 P25940 (COL5A3) V M 1428 rs3815746 Benign
23299 P25940 (COL5A3) A P 1488 rs3745584 Benign
23300 P25940 (COL5A3) I M 1594 rs3745581 Benign
23301 P25940 (COL5A3) V I 1691 rs2277969 Benign
23302 P25942 (CD40) C G 37 - Disease: Immunodefici ency with hyper-IgM 3 (HIGM3) [MIM:606843]
23303 P25942 (CD40) C R 83 rs28931586 Disease: Immunodefici ency with hyper-IgM 3 (HIGM3) [MIM:606843]
23304 P25942 (CD40) S L 124 rs11569321 Benign
23305 P25942 (CD40) P A 227 rs11086998 Benign
23306 P25963 (NFKBIA) S I 32 rs28933100 Disease: Ectodermal dysplasia and immunodefici ency 2 (EDAID2) [MIM:612132]
23307 P26006 (ITGA3) G R 125 - Disease: Interstitial lung disease, nephrotic syndrome, and epidermolysi s bullosa, congenital (ILNEB) [MIM:614748]
23308 P26006 (ITGA3) I F 268 rs2230390 Benign
23309 P26006 (ITGA3) R Q 274 rs745505565 Disease: Interstitial lung disease, nephrotic syndrome, and epidermolysi s bullosa, congenital (ILNEB) [MIM:614748]
23310 P26006 (ITGA3) R P 628 rs140781106 Disease: Interstitial lung disease, nephrotic syndrome, and epidermolysi s bullosa, congenital (ILNEB) [MIM:614748]
23311 P26006 (ITGA3) A T 719 rs2230392 Benign
23312 P26006 (ITGA3) G S 840 rs2301626 Benign
23313 P26010 (ITGB7) H Y 672 rs11539433 Benign
23314 P26012 (ITGB8) S F 552 rs5002476 Benign
23315 P26022 (PTX3) H Q 39 rs34655398 Benign
23316 P26022 (PTX3) A D 48 rs3816527 Benign
23317 P26022 (PTX3) A V 290 rs35415718 Benign
23318 P26022 (PTX3) E K 313 rs4478039 Benign
23319 P26038 (MSN) R W 171 rs1057519074 Disease: Immunodefici ency 50 (IMD50) [MIM:300988]
23320 P26045 (PTPN3) D N 77 rs35285139 Benign
23321 P26045 (PTPN3) A P 90 rs3793524 Benign
23322 P26045 (PTPN3) T A 409 rs10979858 Benign
23323 P26045 (PTPN3) F L 605 rs7859962 Benign
23324 P26045 (PTPN3) D N 763 rs10116806 Benign
23325 P26196 (DDX6) H R 372 - Disease: Intellectual developmenta l disorder with impaired language and dysmorphic facies (IDDILF) [MIM:618653]
23326 P26196 (DDX6) R Q 373 - Disease: Intellectual developmenta l disorder with impaired language and dysmorphic facies (IDDILF) [MIM:618653]
23327 P26196 (DDX6) C R 390 - Disease: Intellectual developmenta l disorder with impaired language and dysmorphic facies (IDDILF) [MIM:618653]
23328 P26196 (DDX6) T I 391 - Disease: Intellectual developmenta l disorder with impaired language and dysmorphic facies (IDDILF) [MIM:618653]
23329 P26196 (DDX6) T P 391 - Disease: Intellectual developmenta l disorder with impaired language and dysmorphic facies (IDDILF) [MIM:618653]
23330 P26358 (DNMT1) H R 97 rs16999593 Benign
23331 P26358 (DNMT1) I V 311 rs2228612 Benign
23332 P26358 (DNMT1) Y C 495 rs199473690 Disease: Neuropathy, hereditary sensory, 1E (HSN1E) [MIM:614116]
23333 P26358 (DNMT1) A V 554 rs397509392 Disease: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) [MIM:604121]
23334 P26358 (DNMT1) G A 589 rs397509393 Disease: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) [MIM:604121]
23335 P26358 (DNMT1) V F 590 rs397509391 Disease: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) [MIM:604121]
23336 P26367 (PAX6) N S 17 - Disease: Aniridia 1 (AN1) [MIM:106210]
23337 P26367 (PAX6) G W 18 - Disease: Aniridia 1 (AN1) [MIM:106210]
23338 P26367 (PAX6) R P 19 - Disease: Aniridia 1 (AN1) [MIM:106210]
23339 P26367 (PAX6) R G 26 rs121907913 Disease: Anterior segment dysgenesis 5 (ASGD5) [MIM:604229]
23340 P26367 (PAX6) I S 29 - Disease: Aniridia 1 (AN1) [MIM:106210]
23341 P26367 (PAX6) I V 29 - Disease: Aniridia 1 (AN1) [MIM:106210]
23342 P26367 (PAX6) A P 33 - Disease: Aniridia 1 (AN1) [MIM:106210]
23343 P26367 (PAX6) I S 42 - Disease: Aniridia 1 (AN1) [MIM:106210]
23344 P26367 (PAX6) S P 43 - Disease: Aniridia 1 (AN1) [MIM:106210]
23345 P26367 (PAX6) R Q 44 - Disease: Aniridia 1 (AN1) [MIM:106210]
23346 P26367 (PAX6) L R 46 - Disease: Aniridia 1 (AN1) [MIM:106210]
23347 P26367 (PAX6) C R 52 - Disease: Aniridia 1 (AN1) [MIM:106210]
23348 P26367 (PAX6) V D 53 - Disease: Anterior segment dysgenesis 5 (ASGD5) [MIM:604229]
23349 P26367 (PAX6) V L 53 - Disease: Aniridia 1 (AN1) [MIM:106210]
23350 P26367 (PAX6) I T 56 - Disease: Aniridia 1 (AN1) [MIM:106210]
23351 P26367 (PAX6) T P 63 - Disease: Aniridia 1 (AN1) [MIM:106210]
23352 P26367 (PAX6) G V 64 rs121907920 Benign
23353 P26367 (PAX6) P S 68 rs121907923 Benign
23354 P26367 (PAX6) G D 73 - Disease: Aniridia 1 (AN1) [MIM:106210]
23355 P26367 (PAX6) A E 79 - Disease: Aniridia 1 (AN1) [MIM:106210]
23356 P26367 (PAX6) I K 87 - Disease: Aniridia 1 (AN1) [MIM:106210]
23357 P26367 (PAX6) I R 87 - Disease: Aniridia 1 (AN1) [MIM:106210]
23358 P26367 (PAX6) S R 119 rs121907928 Disease: Aniridia 1 (AN1) [MIM:106210]
23359 P26367 (PAX6) R C 125 - Disease: Foveal hypoplasia 1 (FVH1) [MIM:136520]
23360 P26367 (PAX6) V D 126 rs121907919 Disease: Aniridia 1 (AN1) [MIM:106210]
23361 P26367 (PAX6) R C 128 rs121907918 Disease: Foveal hypoplasia 1 (FVH1) [MIM:136520]
23362 P26367 (PAX6) Q H 178 - Disease: Aniridia 1 (AN1) [MIM:106210]
23363 P26367 (PAX6) R Q 208 rs749244084 Disease: Aniridia 1 (AN1) [MIM:106210]
23364 P26367 (PAX6) R W 208 rs757259413 Disease: Aniridia 1 (AN1) [MIM:106210]
23365 P26367 (PAX6) R T 242 rs121907927 Disease: Aniridia 1 (AN1) [MIM:106210]
23366 P26367 (PAX6) F S 258 rs121907925 Disease: Coloboma, ocular, autosomal dominant (COAD) [MIM:120200]
23367 P26367 (PAX6) S I 292 - Disease: Bilateral optic nerve hypoplasia (BONH) [MIM:165550]
23368 P26367 (PAX6) S A 353 rs373661718 Disease: Aniridia 1 (AN1) [MIM:106210]
23369 P26367 (PAX6) S P 363 - Disease: Anterior segment dysgenesis 5 (ASGD5) [MIM:604229]
23370 P26367 (PAX6) P Q 375 rs200015827 Disease: Aniridia 1 (AN1) [MIM:106210]
23371 P26367 (PAX6) M V 381 - Disease: Bilateral optic nerve hypoplasia (BONH) [MIM:165550]
23372 P26367 (PAX6) G D 387 rs1392343463 Benign
23373 P26367 (PAX6) T A 391 rs121907926 Disease: Bilateral optic nerve hypoplasia (BONH) [MIM:165550]
23374 P26367 (PAX6) G R 395 - Disease: Aniridia 1 (AN1) [MIM:106210]
23375 P26367 (PAX6) Q R 422 rs780356070 Disease: Aniridia 1 (AN1) [MIM:106210]
23376 P26371 (KRTAP5-9) G R 8 rs34213141 Benign
23377 P26371 (KRTAP5-9) Y C 40 rs10792769 Benign
23378 P26373 (RPL13) A T 112 rs9930567 Benign
23379 P26373 (RPL13) T P 170 rs1062450 Benign
23380 P26373 (RPL13) R P 183 - Disease: Spondyloepim etaphyseal dysplasia, Isidor- Toutain type (SEMDIST) [MIM:618728]
23381 P26378 (ELAVL4) D G 171 rs17853533 Benign
23382 P26378 (ELAVL4) P S 275 rs2494876 Benign
23383 P26378 (ELAVL4) A T 361 rs17853531 Benign
23384 P26436 (ACRV1) G R 126 rs34788353 Benign
23385 P26439 (HSD3B2) A E 10 rs28934880 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23386 P26439 (HSD3B2) A V 10 rs28934880 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23387 P26439 (HSD3B2) G D 15 - Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23388 P26439 (HSD3B2) D N 74 rs4986954 Benign
23389 P26439 (HSD3B2) A P 82 - Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23390 P26439 (HSD3B2) A T 82 rs757033996 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23391 P26439 (HSD3B2) E Q 94 rs6211 Benign
23392 P26439 (HSD3B2) N S 100 rs1388517943 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23393 P26439 (HSD3B2) L W 108 - Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23394 P26439 (HSD3B2) G R 129 rs587628683 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23395 P26439 (HSD3B2) E K 142 rs80358219 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23396 P26439 (HSD3B2) P L 155 rs779418168 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23397 P26439 (HSD3B2) A V 167 rs35486059 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23398 P26439 (HSD3B2) L R 173 rs762479018 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23399 P26439 (HSD3B2) P L 186 - Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23400 P26439 (HSD3B2) L P 205 - Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23401 P26439 (HSD3B2) S G 213 rs759422374 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23402 P26439 (HSD3B2) K E 216 - Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23403 P26439 (HSD3B2) P H 222 - Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23404 P26439 (HSD3B2) P Q 222 rs765547422 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23405 P26439 (HSD3B2) P T 222 rs80358220 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23406 P26439 (HSD3B2) L S 236 rs35887327 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23407 P26439 (HSD3B2) A P 245 - Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23408 P26439 (HSD3B2) Y N 253 rs1399005702 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23409 P26439 (HSD3B2) Y D 254 rs1411029929 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23410 P26439 (HSD3B2) T M 259 rs80358221 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23411 P26439 (HSD3B2) T R 259 - Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23412 P26439 (HSD3B2) G V 294 - Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23413 P26439 (HSD3B2) P L 341 rs121964897 Disease: Adrenal hyperplasia 2 (AH2) [MIM:201810]
23414 P26440 (IVD) L P 45 rs121434284 Disease: Isovaleric acidemia (IVA) [MIM:243500]
23415 P26440 (IVD) R P 53 rs2229311 Disease: Isovaleric acidemia (IVA) [MIM:243500]
23416 P26440 (IVD) D N 72 rs747273828 Disease: Isovaleric acidemia (IVA) [MIM:243500]
23417 P26440 (IVD) A G 97 - Disease: Isovaleric acidemia (IVA) [MIM:243500]
23418 P26440 (IVD) G R 123 rs142761835 Disease: Isovaleric acidemia (IVA) [MIM:243500]
23419 P26440 (IVD) I M 199 - Disease: Isovaleric acidemia (IVA) [MIM:243500]
23420 P26440 (IVD) G V 202 rs121434285 Disease: Isovaleric acidemia (IVA) [MIM:243500]
23421 P26440 (IVD) L P 279 - Disease: Isovaleric acidemia (IVA) [MIM:243500]
23422 P26440 (IVD) A V 314 rs28940889 Disease: Isovaleric acidemia (IVA) [MIM:243500]
23423 P26440 (IVD) C R 360 rs760822119 Disease: Isovaleric acidemia (IVA) [MIM:243500]
23424 P26440 (IVD) V A 374 rs754600862 Disease: Isovaleric acidemia (IVA) [MIM:243500]
23425 P26440 (IVD) R C 395 rs371427844 Disease: Isovaleric acidemia (IVA) [MIM:243500]
23426 P26440 (IVD) Y C 403 rs773560012 Disease: Isovaleric acidemia (IVA) [MIM:243500]
23427 P26440 (IVD) R L 414 - Disease: Isovaleric acidemia (IVA) [MIM:243500]
23428 P26441 (CNTF) N S 49 rs17152779 Benign
23429 P26441 (CNTF) H R 182 rs6266 Benign
23430 P26572 (MGAT1) R Q 223 rs7726005 Benign
23431 P26572 (MGAT1) L P 435 rs634501 Benign
23432 P26639 (TARS1) G D 21 rs34334786 Benign
23433 P26639 (TARS1) L P 227 - Disease: Trichothiody strophy 7, non-photosen sitive (TTD7) [MIM:618546]
23434 P26639 (TARS1) K E 276 - Disease: Trichothiody strophy 7, non-photosen sitive (TTD7) [MIM:618546]
23435 P26640 (VARS1) P R 51 rs2607015 Benign
23436 P26640 (VARS1) P T 51 rs2753960 Benign
23437 P26640 (VARS1) R C 181 rs35196751 Benign
23438 P26640 (VARS1) P S 626 rs11531 Benign
23439 P26640 (VARS1) P L 1008 rs1076827 Benign
23440 P26651 (ZFP36) P S 37 rs17878633 Benign
23441 P26651 (ZFP36) P S 55 rs2229272 Benign
23442 P26651 (ZFP36) I F 259 rs17886974 Benign
23443 P26651 (ZFP36) V F 324 rs17884899 Benign
23444 P26678 (PLN) R C 9 rs111033559 Disease: Cardiomyopat hy, dilated 1P (CMD1P) [MIM:609909]
23445 P26678 (PLN) R H 9 rs754782171 Disease: Cardiomyopat hy, dilated 1P (CMD1P) [MIM:609909]
23446 P26678 (PLN) R L 9 - Disease: Cardiomyopat hy, dilated 1P (CMD1P) [MIM:609909]
23447 P26715 (KLRC1) N S 29 rs2253849 Benign
23448 P26717 (KLRC2) S N 2 rs28403159 Benign
23449 P26717 (KLRC2) S F 102 - Benign
23450 P26718 (KLRK1) A T 72 rs2255336 Benign
23451 P26718 (KLRK1) N S 177 rs2306182 Benign
23452 P26842 (CD27) C Y 53 rs397514667 Disease: Lymphoprolif erative syndrome 2 (LPFS2) [MIM:615122]
23453 P26842 (CD27) A T 59 rs25680 Benign
23454 P26842 (CD27) H R 233 rs2532502 Benign
23455 P26885 (FKBP2) R Q 7 rs4672 Benign
23456 P26885 (FKBP2) A T 25 - Benign
23457 P26885 (FKBP2) C Y 97 - Benign
23458 P26927 (MST1) C Y 13 - Benign
23459 P26927 (MST1) C F 212 - Benign
23460 P26927 (MST1) S G 551 rs6791037 Benign
23461 P26927 (MST1) R C 689 rs3197999 Benign
23462 P26951 (IL3RA) A T 12 rs6647004 Benign
23463 P26951 (IL3RA) E G 77 rs17886756 Benign
23464 P26951 (IL3RA) S T 123 rs17883572 Benign
23465 P26951 (IL3RA) V L 323 rs17883366 Benign
23466 P26998 (CRYBB3) R Q 105 rs17670506 Benign
23467 P26998 (CRYBB3) H D 113 rs9608378 Benign
23468 P26998 (CRYBB3) V I 159 rs4455261 Benign
23469 P26998 (CRYBB3) G R 165 rs74315490 Disease: Cataract 22, multiple types (CTRCT22) [MIM:609741]
23470 P26998 (CRYBB3) V E 194 rs587777601 Disease: Cataract 22, multiple types (CTRCT22) [MIM:609741]
23471 P27037 (ACVR2A) S R 258 rs34917571 Benign
23472 P27169 (PON1) L M 55 rs854560 Benign
23473 P27169 (PON1) I V 102 rs72552787 Benign
23474 P27169 (PON1) R G 160 rs13306698 Benign
23475 P27169 (PON1) Q R 192 rs662 Benign
23476 P27216 (ANXA13) R H 86 rs2294013 Benign
23477 P27216 (ANXA13) V I 108 rs6995099 Benign
23478 P27216 (ANXA13) V I 272 rs2294015 Benign
23479 P27352 (CBLIF) Q R 23 rs35211634 Benign
23480 P27352 (CBLIF) S L 46 rs121434322 Disease: Hereditary intrinsic factor deficiency (IFD) [MIM:261000]
23481 P27352 (CBLIF) G R 65 rs11825834 Benign
23482 P27352 (CBLIF) N S 255 rs35867471 Benign
23483 P27361 (MAPK3) E K 323 rs55859133 Benign
23484 P27448 (MARK3) S F 410 rs10137161 Benign
23485 P27448 (MARK3) V A 429 - Benign
23486 P27448 (MARK3) S G 443 rs56305318 Benign
23487 P27448 (MARK3) R G 570 rs376395495 Disease: Visual impairment and progressive phthisis bulbi (VIPB) [MIM:618283]
23488 P27539 (GDF1) A V 118 rs4808863 Benign
23489 P27539 (GDF1) G D 162 rs121434424 Disease: Tetralogy of Fallot (TOF) [MIM:187500]
23490 P27539 (GDF1) C Y 267 rs121434423 Disease: Conotruncal heart malformation s (CTHM) [MIM:217095]
23491 P27539 (GDF1) S P 309 rs864622513 Disease: Tetralogy of Fallot (TOF) [MIM:187500]
23492 P27539 (GDF1) P T 312 - Disease: Tetralogy of Fallot (TOF) [MIM:187500]
23493 P27539 (GDF1) A T 318 rs1064793138 Disease: Congenital heart defects, multiple types, 6 (CHTD6) [MIM:613854]
23494 P27539 (GDF1) M T 364 rs374016704 Disease: Congenital heart defects, multiple types, 6 (CHTD6) [MIM:613854]
23495 P27540 (ARNT) R Q 430 rs2229175 Benign
23496 P27540 (ARNT) D N 511 rs1805133 Benign
23497 P27540 (ARNT) D E 517 rs10305741 Benign
23498 P27540 (ARNT) P L 706 rs2275237 Benign
23499 P27544 (CERS1) H Q 183 rs200024180 Disease: Epilepsy, progressive myoclonic 8 (EPM8) [MIM:616230]
23500 P27635 (RPL10) A V 64 - Disease: Mental retardation, X-linked, syndromic, 35 (MRXS35) [MIM:300998]
23501 P27635 (RPL10) K E 78 rs1131692040 Disease: Mental retardation, X-linked, syndromic, 35 (MRXS35) [MIM:300998]
23502 P27635 (RPL10) N S 202 rs4909 Benign
23503 P27635 (RPL10) L M 206 rs387906727 Disease: Autism, X-linked 5 (AUTSX5) [MIM:300847]
23504 P27635 (RPL10) H Q 213 rs782521991 Disease: Autism, X-linked 5 (AUTSX5) [MIM:300847]
23505 P27694 (RPA1) T A 351 rs5030755 Benign
23506 P27695 (APEX1) Q H 51 rs1048945 Benign
23507 P27695 (APEX1) I V 64 rs2307486 Benign
23508 P27695 (APEX1) D E 148 rs1130409 Benign
23509 P27701 (CD82) I V 241 rs1139971 Benign
23510 P27708 (CAD) R Q 2024 rs763410987 Disease: Epileptic encephalopat hy, early infantile, 50 (EIEE50) [MIM:616457]
23511 P27815 (PDE4A) A E 736 rs1051738 Benign
23512 P27815 (PDE4A) H Y 808 rs2230190 Benign
23513 P27816 (MAP4) R Q 23 rs11711953 Benign
23514 P27816 (MAP4) P L 366 rs13097415 Benign
23515 P27816 (MAP4) S P 367 rs13096947 Benign
23516 P27816 (MAP4) D G 409 rs13076542 Benign
23517 P27816 (MAP4) S Y 427 rs1060407 Benign
23518 P27816 (MAP4) E Q 441 rs2230169 Benign
23519 P27816 (MAP4) V I 628 rs1137524 Benign
23520 P27816 (MAP4) I V 994 rs35736893 Benign
23521 P27918 (CFP) C Y 32 - Disease: Properdin deficiency (PFD) [MIM:312060]
23522 P27918 (CFP) V M 53 rs8177068 Benign
23523 P27918 (CFP) R W 100 rs132630259 Disease: Properdin deficiency (PFD) [MIM:312060]
23524 P27918 (CFP) P L 204 rs8177076 Benign
23525 P27918 (CFP) E K 244 - Disease: Properdin deficiency (PFD) [MIM:312060]
23526 P27918 (CFP) G S 250 rs8177077 Benign
23527 P27918 (CFP) G V 298 rs28935480 Disease: Properdin deficiency (PFD) [MIM:312060]
23528 P27918 (CFP) Q R 343 - Disease: Properdin deficiency (PFD) [MIM:312060]
23529 P27918 (CFP) Y D 414 rs132630261 Disease: Properdin deficiency (PFD) [MIM:312060]
23530 P27930 (IL1R2) E K 181 rs28385682 Benign
23531 P27930 (IL1R2) E K 292 rs3218976 Benign
23532 P27986 (PIK3R1) M I 326 rs3730089 Benign
23533 P27986 (PIK3R1) R Q 409 rs748784250 Benign
23534 P27986 (PIK3R1) E K 451 rs17852841 Benign
23535 P27986 (PIK3R1) E K 489 rs397514047 Disease: SHORT syndrome (SHORTS) [MIM:269880]
23536 P27986 (PIK3R1) R W 649 rs397515453 Disease: SHORT syndrome (SHORTS) [MIM:269880]
23537 P27987 (ITPKB) A T 322 rs3754413 Benign
23538 P27987 (ITPKB) S A 408 rs6667260 Benign
23539 P27987 (ITPKB) P Q 552 rs708776 Benign
23540 P28039 (AOAH) D N 28 rs2228410 Benign
23541 P28039 (AOAH) A T 166 rs3735384 Benign
23542 P28039 (AOAH) A G 266 rs3735386 Benign
23543 P28062 (PSMB8) G R 8 rs114772012 Benign
23544 P28062 (PSMB8) Q K 49 rs2071543 Benign
23545 P28062 (PSMB8) T S 74 rs17220206 Benign
23546 P28062 (PSMB8) T M 75 rs748082671 Disease: Proteasome- associated autoinflamma tory syndrome 1 (PRAAS1) [MIM:256040]
23547 P28062 (PSMB8) K Q 105 rs1554239543 Disease: Proteasome- associated autoinflamma tory syndrome 1 (PRAAS1) [MIM:256040]
23548 P28062 (PSMB8) G V 201 rs387906680 Disease: Proteasome- associated autoinflamma tory syndrome 1 (PRAAS1) [MIM:256040]
23549 P28065 (PSMB9) G E 9 rs35100697 Benign
23550 P28065 (PSMB9) V I 32 rs241419 Benign
23551 P28065 (PSMB9) R H 60 rs17587 Benign
23552 P28065 (PSMB9) G D 165 rs369359789 Disease: Proteasome- associated autoinflamma tory syndrome 3 (PRAAS3) [MIM:617591]
23553 P28065 (PSMB9) R C 173 rs17213861 Benign
23554 P28067 (HLA-DMA) H Q 162 - Benign
23555 P28067 (HLA-DMA) D H 163 - Benign
23556 P28067 (HLA-DMA) V I 166 rs1063478 Benign
23557 P28067 (HLA-DMA) G A 181 rs6926628 Benign
23558 P28067 (HLA-DMA) R C 210 rs17214044 Benign
23559 P28067 (HLA-DMA) R H 210 rs41555121 Benign
23560 P28067 (HLA-DMA) V M 235 rs9469319 Benign
23561 P28068 (HLA-DMB) T A 28 rs17583782 Benign
23562 P28068 (HLA-DMB) S F 45 rs41560814 Benign
23563 P28068 (HLA-DMB) D V 49 rs17617333 Benign
23564 P28068 (HLA-DMB) S N 71 rs17617321 Benign
23565 P28068 (HLA-DMB) A E 162 rs2071555 Benign
23566 P28068 (HLA-DMB) A V 162 rs2071555 Benign
23567 P28068 (HLA-DMB) I T 197 rs1042337 Benign
23568 P28069 (POU1F1) Q R 4 rs1051612 Benign
23569 P28069 (POU1F1) A V 19 rs35182189 Benign
23570 P28069 (POU1F1) P L 24 rs104893757 Disease: Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
23571 P28069 (POU1F1) P L 76 - Disease: Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
23572 P28069 (POU1F1) F C 135 rs104893761 Disease: Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
23573 P28069 (POU1F1) R Q 143 rs104893759 Disease: Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
23574 P28069 (POU1F1) A P 158 rs104893756 Disease: Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
23575 P28069 (POU1F1) R Q 172 rs104893765 Disease: Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
23576 P28069 (POU1F1) E G 174 rs1207179169 Disease: Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
23577 P28069 (POU1F1) S R 179 rs104893766 Disease: Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
23578 P28069 (POU1F1) W R 193 rs104893758 Disease: Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
23579 P28069 (POU1F1) D Y 227 rs1131815 Benign
23580 P28069 (POU1F1) E K 230 rs104893764 Disease: Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
23581 P28069 (POU1F1) P S 239 rs104893762 Disease: Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
23582 P28069 (POU1F1) R W 265 rs780359925 Disease: Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
23583 P28069 (POU1F1) R W 271 rs104893755 Disease: Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]
23584 P28070 (PSMB4) M I 95 rs1804241 Benign
23585 P28070 (PSMB4) I T 234 rs4603 Benign
23586 P28072 (PSMB6) P A 107 rs2304974 Benign
23587 P28074 (PSMB5) R C 24 rs11543947 Benign
23588 P28161 (GSTM2) S N 173 rs2229050 Benign
23589 P28221 (HTR1D) S L 265 rs6299 Benign
23590 P28222 (HTR1B) F C 124 rs130060 Benign
23591 P28222 (HTR1B) F L 219 rs130061 Benign
23592 P28222 (HTR1B) I V 367 rs130063 Benign
23593 P28222 (HTR1B) E K 374 rs130064 Benign
23594 P28223 (HTR2A) T N 25 rs1805055 Benign
23595 P28223 (HTR2A) I V 197 rs6304 Benign
23596 P28223 (HTR2A) A V 447 rs6308 Benign
23597 P28223 (HTR2A) H Y 452 rs6314 Benign
23598 P28288 (ABCD3) G D 17 rs121917999 Benign
23599 P28290 (ITPRID2) A V 817 rs16867510 Benign
23600 P28290 (ITPRID2) R W 833 rs13419020 Benign
23601 P28290 (ITPRID2) P L 836 rs17647806 Benign
23602 P28290 (ITPRID2) Y N 1258 rs2303554 Benign
23603 P28300 (LOX) R Q 158 rs1800449 Benign
23604 P28300 (LOX) Q P 267 rs886040967 Disease: Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168]
23605 P28300 (LOX) S I 280 rs886040965 Disease: Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168]
23606 P28300 (LOX) M R 298 rs876657852 Disease: Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168]
23607 P28300 (LOX) S R 348 - Disease: Aortic aneurysm, familial thoracic 10 (AAT10) [MIM:617168]
23608 P28325 (CST5) C R 46 rs1799841 Benign
23609 P28328 (PEX2) E K 55 rs61752119 Disease: Peroxisome biogenesis disorder 5B (PBD5B) [MIM:614867]
23610 P28328 (PEX2) C R 184 rs10087163 Benign
23611 P28329 (CHAT) D E 47 rs3810948 Benign
23612 P28329 (CHAT) A T 120 rs3810950 Benign
23613 P28329 (CHAT) L P 210 rs121912820 Disease: Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
23614 P28329 (CHAT) P A 211 rs121912815 Disease: Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
23615 P28329 (CHAT) R P 222 rs8178989 Benign
23616 P28329 (CHAT) L F 243 rs8178990 Benign
23617 P28329 (CHAT) P L 299 rs868749 Benign
23618 P28329 (CHAT) I T 305 rs75466054 Disease: Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
23619 P28329 (CHAT) I T 336 rs121912823 Disease: Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
23620 P28329 (CHAT) A G 392 - Benign
23621 P28329 (CHAT) D N 400 rs8178991 Benign
23622 P28329 (CHAT) R C 420 rs121912822 Disease: Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
23623 P28329 (CHAT) E K 441 rs121912816 Disease: Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
23624 P28329 (CHAT) V M 461 rs4838544 Benign
23625 P28329 (CHAT) R G 482 rs121912818 Disease: Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
23626 P28329 (CHAT) S L 498 rs121912821 Disease: Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
23627 P28329 (CHAT) V L 506 rs121912817 Disease: Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
23628 P28329 (CHAT) R H 560 rs121912819 Disease: Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
23629 P28330 (ACADL) S T 303 rs1801204 Benign
23630 P28330 (ACADL) K Q 333 rs2286963 Benign
23631 P28331 (NDUFS1) R Q 241 rs17856901 Benign
23632 P28331 (NDUFS1) R W 241 rs199422225 Disease: Mitochondria l complex I deficiency, nuclear type 5 (MC1DN5) [MIM:618226]
23633 P28331 (NDUFS1) D G 252 rs199422224 Disease: Mitochondria l complex I deficiency, nuclear type 5 (MC1DN5) [MIM:618226]
23634 P28331 (NDUFS1) V G 253 rs786205666 Benign
23635 P28331 (NDUFS1) V F 649 rs1044049 Benign
23636 P28332 (ADH6) C G 102 rs28720152 Benign
23637 P28332 (ADH6) I V 114 rs28720153 Benign
23638 P28332 (ADH6) T P 151 rs34582580 Benign
23639 P28335 (HTR2C) C S 23 rs6318 Benign
23640 P28335 (HTR2C) I V 160 rs781938388 Benign
23641 P28336 (NMBR) L M 390 rs7453944 Benign
23642 P28340 (POLD1) R W 5 rs9282830 Benign
23643 P28340 (POLD1) R H 19 rs3218773 Benign
23644 P28340 (POLD1) G C 21 rs9282831 Benign
23645 P28340 (POLD1) R W 30 rs3218772 Benign
23646 P28340 (POLD1) R H 119 rs1726801 Benign
23647 P28340 (POLD1) S N 173 rs1726803 Benign
23648 P28340 (POLD1) R H 177 rs3218750 Benign
23649 P28340 (POLD1) P L 347 rs2230243 Benign
23650 P28340 (POLD1) L P 474 rs587777627 Disease: Colorectal cancer 10 (CRCS10) [MIM:612591]
23651 P28340 (POLD1) S N 478 rs397514632 Disease: Colorectal cancer 10 (CRCS10) [MIM:612591]
23652 P28340 (POLD1) P L 787 rs199783227 Benign
23653 P28340 (POLD1) R H 808 rs771700024 Benign
23654 P28340 (POLD1) R H 849 rs3218775 Benign
23655 P28340 (POLD1) A T 864 rs765437818 Benign
23656 P28340 (POLD1) R Q 1086 rs3219457 Benign
23657 P28347 (TEAD1) Y H 421 rs11567847 Disease: Sveinsson chorioretina l atrophy (SCRA) [MIM:108985]
23658 P28358 (HOXD10) M K 319 rs104893634 Disease: Vertical talus, congenital (CVT) [MIM:192950]
23659 P28360 (MSX1) M K 67 rs121913130 Disease: Tooth agenesis, selective, 1 (STHAG1) [MIM:106600]
23660 P28360 (MSX1) E V 84 rs28928890 Disease: Non- syndromic orofacial cleft 5 (OFC5) [MIM:608874]
23661 P28360 (MSX1) G D 97 - Disease: Non- syndromic orofacial cleft 5 (OFC5) [MIM:608874]
23662 P28360 (MSX1) V G 120 rs759548721 Disease: Non- syndromic orofacial cleft 5 (OFC5) [MIM:608874]
23663 P28360 (MSX1) G E 122 rs28933081 Disease: Non- syndromic orofacial cleft 5 (OFC5) [MIM:608874]
23664 P28360 (MSX1) R S 157 rs150284621 Disease: Non- syndromic orofacial cleft 5 (OFC5) [MIM:608874]
23665 P28360 (MSX1) R P 202 rs121913129 Disease: Tooth agenesis, selective, 1 (STHAG1) [MIM:106600]
23666 P28370 (SMARCA1) Q R 656 rs1134838 Benign
23667 P28472 (GABRB3) G R 32 rs71651682 Disease: Epilepsy, childhood absence 5 (ECA5) [MIM:612269]
23668 P28472 (GABRB3) D N 120 rs886037938 Disease: Epileptic encephalopat hy, early infantile, 43 (EIEE43) [MIM:617113]
23669 P28472 (GABRB3) L F 124 rs1057519550 Disease: Epileptic encephalopat hy, early infantile, 43 (EIEE43) [MIM:617113]
23670 P28472 (GABRB3) Q L 173 rs17850679 Benign
23671 P28472 (GABRB3) Y F 182 rs886037939 Disease: Epileptic encephalopat hy, early infantile, 43 (EIEE43) [MIM:617113]
23672 P28472 (GABRB3) R H 217 rs121913125 Benign
23673 P28472 (GABRB3) Q K 249 rs886037940 Disease: Epileptic encephalopat hy, early infantile, 43 (EIEE43) [MIM:617113]
23674 P28472 (GABRB3) S F 254 rs1057519549 Disease: Epileptic encephalopat hy, early infantile, 43 (EIEE43) [MIM:617113]
23675 P28472 (GABRB3) L Q 256 - Disease: Epileptic encephalopat hy, early infantile, 43 (EIEE43) [MIM:617113]
23676 P28472 (GABRB3) T I 287 - Disease: Epileptic encephalopat hy, early infantile, 43 (EIEE43) [MIM:617113]
23677 P28472 (GABRB3) A T 305 rs886037941 Disease: Epileptic encephalopat hy, early infantile, 43 (EIEE43) [MIM:617113]
23678 P28562 (DUSP1) A T 56 rs34013988 Benign
23679 P28562 (DUSP1) Y H 187 rs34471628 Benign
23680 P28566 (HTR1E) A T 208 rs3828741 Benign
23681 P28566 (HTR1E) S F 262 rs6303 Benign
23682 P28676 (GCA) S A 80 rs17783344 Benign
23683 P28698 (MZF1) R H 51 rs3752109 Benign
23684 P28698 (MZF1) R H 103 rs3752110 Benign
23685 P28698 (MZF1) R Q 130 rs3752111 Benign
23686 P28698 (MZF1) I V 331 rs4756 Benign
23687 P28698 (MZF1) R P 441 rs2229255 Benign
23688 P28715 (ERCC5) A D 28 rs267607281 Disease: Xeroderma pigmentosum complementat ion group G (XP-G) [MIM:278780]
23689 P28715 (ERCC5) P H 72 rs121434574 Disease: Xeroderma pigmentosum complementat ion group G (XP-G) [MIM:278780]
23690 P28715 (ERCC5) V I 145 rs4987063 Benign
23691 P28715 (ERCC5) H R 181 rs4150295 Benign
23692 P28715 (ERCC5) M V 254 rs1047769 Benign
23693 P28715 (ERCC5) Q R 256 rs4150313 Benign
23694 P28715 (ERCC5) S C 311 rs2307491 Benign
23695 P28715 (ERCC5) E K 399 rs4150315 Benign
23696 P28715 (ERCC5) C S 529 rs2227869 Benign
23697 P28715 (ERCC5) V I 590 rs4150318 Benign
23698 P28715 (ERCC5) V L 597 rs4150319 Benign
23699 P28715 (ERCC5) F L 670 rs1803542 Benign
23700 P28715 (ERCC5) Q R 680 rs4987168 Benign
23701 P28715 (ERCC5) A V 792 rs121434571 Disease: Xeroderma pigmentosum complementat ion group G (XP-G) [MIM:278780]
23702 P28715 (ERCC5) L P 858 rs121434575 Disease: Xeroderma pigmentosum complementat ion group G (XP-G) [MIM:278780]
23703 P28715 (ERCC5) A T 874 rs121434576 Disease: Xeroderma pigmentosum complementat ion group G (XP-G) [MIM:278780]
23704 P28715 (ERCC5) N S 879 rs4150342 Benign
23705 P28715 (ERCC5) W C 968 rs267607280 Disease: Xeroderma pigmentosum complementat ion group G (XP-G) [MIM:278780]
23706 P28715 (ERCC5) R H 1009 rs4150387 Benign
23707 P28715 (ERCC5) G R 1053 rs9514066 Benign
23708 P28715 (ERCC5) G Q 1080 rs587778291 Benign
23709 P28715 (ERCC5) G R 1080 rs9514067 Benign
23710 P28715 (ERCC5) D H 1104 rs17655 Benign
23711 P28715 (ERCC5) A V 1119 rs2227871 Benign
23712 P28749 (RBL1) I M 1035 rs8114297 Benign
23713 P28799 (GRN) A D 9 rs63751243 Disease: Ubiquitin- positive frontotempor al dementia (UP-FTD) [MIM:607485]
23714 P28799 (GRN) R W 19 rs63750723 Benign
23715 P28799 (GRN) R W 55 - Benign
23716 P28799 (GRN) A T 69 rs199944486 Benign
23717 P28799 (GRN) S Y 120 rs63750043 Benign
23718 P28799 (GRN) T M 182 rs63750479 Benign
23719 P28799 (GRN) C S 221 rs758322775 Benign
23720 P28799 (GRN) P L 275 rs529849967 Benign
23721 P28799 (GRN) D N 376 rs143030899 Benign
23722 P28799 (GRN) S L 398 rs148213321 Benign
23723 P28799 (GRN) R Q 433 rs114248177 Benign
23724 P28799 (GRN) G A 515 rs25647 Benign
23725 P28799 (GRN) R H 564 rs971443926 Benign
23726 P28827 (PTPRM) S R 39 rs35224276 Benign
23727 P28906 (CD34) A S 367 rs28362497 Benign
23728 P28907 (CD38) R W 140 rs1800561 Benign
23729 P28908 (TNFRSF8) C F 273 rs2230624 Benign
23730 P28908 (TNFRSF8) C Y 273 rs2230624 Benign
23731 P28908 (TNFRSF8) C R 297 rs1763642 Benign
23732 P28908 (TNFRSF8) P S 314 rs2275170 Benign
23733 P28908 (TNFRSF8) S G 402 rs2230625 Benign
23734 P28908 (TNFRSF8) Q R 466 rs35511003 Benign
23735 P29017 (CD1C) N T 70 rs3138100 Benign
23736 P29017 (CD1C) F S 300 rs3138105 Benign
23737 P29033 (GJB2) G R 12 rs104894408 Disease: Keratitis- ichthyosis- deafness syndrome (KID syndrome) [MIM:148210]
23738 P29033 (GJB2) S F 17 rs28929485 Disease: Keratitis- ichthyosis- deafness syndrome (KID syndrome) [MIM:148210]
23739 P29033 (GJB2) V I 27 rs2274084 Benign
23740 P29033 (GJB2) R L 32 rs111033190 Benign
23741 P29033 (GJB2) R H 32 rs111033190 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23742 P29033 (GJB2) V I 37 rs72474224 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23743 P29033 (GJB2) W C 44 rs104894407 Disease: Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
23744 P29033 (GJB2) W S 44 rs104894413 Disease: Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
23745 P29033 (GJB2) G E 45 rs72561723 Benign
23746 P29033 (GJB2) D E 46 - Disease: Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
23747 P29033 (GJB2) D N 50 rs28931594 Disease: Keratitis- ichthyosis- deafness syndrome (KID syndrome) [MIM:148210]
23748 P29033 (GJB2) D Y 50 rs28931594 Disease: Keratitis- ichthyosis- deafness syndrome (KID syndrome) [MIM:148210]
23749 P29033 (GJB2) N K 54 rs104894412 Disease: Knuckle pads, leukonychia, and sensorineura l deafness (KPLD) [MIM:149200]
23750 P29033 (GJB2) G A 59 rs104894404 Disease: Keratoderma, palmoplantar , with deafness (PPKDFN) [MIM:148350]
23751 P29033 (GJB2) G S 59 rs104894410 Disease: Knuckle pads, leukonychia, and sensorineura l deafness (KPLD) [MIM:149200]
23752 P29033 (GJB2) D H 66 rs104894403 Disease: Vohwinkel syndrome (VOWNKL) [MIM:124500]
23753 P29033 (GJB2) I T 71 rs1373154561 Benign
23754 P29033 (GJB2) H R 73 rs121912968 Disease: Keratoderma, palmoplantar , with deafness (PPKDFN) [MIM:148350]
23755 P29033 (GJB2) R Q 75 rs28931593 Disease: Keratoderma, palmoplantar , with deafness (PPKDFN) [MIM:148350]
23756 P29033 (GJB2) R W 75 rs104894402 Disease: Keratoderma, palmoplantar , with deafness (PPKDFN) [MIM:148350]
23757 P29033 (GJB2) W R 77 rs104894397 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23758 P29033 (GJB2) L P 79 rs1555341957 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23759 P29033 (GJB2) Q K 80 - Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23760 P29033 (GJB2) F L 83 rs111033218 Benign
23761 P29033 (GJB2) V L 84 rs104894409 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23762 P29033 (GJB2) V M 84 rs104894409 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23763 P29033 (GJB2) T R 86 rs1291519904 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23764 P29033 (GJB2) L P 90 rs80338945 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23765 P29033 (GJB2) M I 93 rs397516871 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23766 P29033 (GJB2) V M 95 rs111033299 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23767 P29033 (GJB2) I T 111 rs1316789942 Benign
23768 P29033 (GJB2) S R 113 rs80338946 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23769 P29033 (GJB2) E G 114 rs2274083 Benign
23770 P29033 (GJB2) D H 117 - Benign
23771 P29033 (GJB2) T N 123 rs111033188 Benign
23772 P29033 (GJB2) R H 127 rs111033196 Benign
23773 P29033 (GJB2) E K 129 rs397516875 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23774 P29033 (GJB2) G A 130 rs779018464 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23775 P29033 (GJB2) G D 130 rs779018464 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23776 P29033 (GJB2) G V 130 - Disease: Vohwinkel syndrome (VOWNKL) [MIM:124500]
23777 P29033 (GJB2) R Q 143 rs104894401 Disease: Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
23778 P29033 (GJB2) R W 143 rs80338948 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23779 P29033 (GJB2) A P 148 - Benign
23780 P29033 (GJB2) V I 153 rs111033186 Benign
23781 P29033 (GJB2) D V 159 rs28931592 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23782 P29033 (GJB2) G S 160 rs34988750 Benign
23783 P29033 (GJB2) R W 165 rs376898963 Benign
23784 P29033 (GJB2) V M 167 rs111033360 Benign
23785 P29033 (GJB2) C Y 169 rs774518779 Benign
23786 P29033 (GJB2) V A 178 rs568612627 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23787 P29033 (GJB2) D N 179 rs28931595 Disease: Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
23788 P29033 (GJB2) R P 184 rs80338950 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23789 P29033 (GJB2) R Q 184 rs80338950 Disease: Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
23790 P29033 (GJB2) R W 184 rs998045226 Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23791 P29033 (GJB2) F L 191 rs397516878 Benign
23792 P29033 (GJB2) A S 197 rs777236559 Disease: Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
23793 P29033 (GJB2) C F 202 rs104894406 Disease: Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
23794 P29033 (GJB2) I T 203 rs76838169 Benign
23795 P29033 (GJB2) I K 203 - Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23796 P29033 (GJB2) L P 214 - Disease: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
23797 P29074 (PTPN4) T S 924 rs3189128 Benign
23798 P29083 (GTF2E1) P S 366 rs3732401 Benign
23799 P29084 (GTF2E2) I T 133 rs2229299 Benign
23800 P29084 (GTF2E2) A P 150 rs875989846 Disease: Trichothiody strophy 6, non-photosen sitive (TTD6) [MIM:616943]
23801 P29084 (GTF2E2) K R 183 rs2978277 Benign
23802 P29084 (GTF2E2) D Y 187 rs875989847 Disease: Trichothiody strophy 6, non-photosen sitive (TTD6) [MIM:616943]
23803 P29120 (PCSK1) R Q 80 rs1799904 Benign
23804 P29120 (PCSK1) N D 221 rs6232 Benign
23805 P29120 (PCSK1) S L 307 rs137852824 Disease: Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]
23806 P29120 (PCSK1) G R 483 rs137852821 Disease: Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]
23807 P29120 (PCSK1) Q E 665 rs6234 Benign
23808 P29120 (PCSK1) S T 690 rs6235 Benign
23809 P29122 (PCSK6) C R 502 rs1058260 Benign
23810 P29218 (IMPA1) I V 109 rs204781 Benign
23811 P29274 (ADORA2A) A V 50 rs4530 Benign
23812 P29274 (ADORA2A) R H 300 rs4990 Benign
23813 P29274 (ADORA2A) G R 392 rs1277013918 Benign
23814 P29279 (CCN2) H D 83 rs7451102 Benign
23815 P29317 (EPHA2) K N 99 rs1058372 Benign
23816 P29317 (EPHA2) G R 391 rs34192549 Benign
23817 P29317 (EPHA2) T M 511 rs55747232 Benign
23818 P29317 (EPHA2) R H 568 rs56198600 Benign
23819 P29317 (EPHA2) M T 631 rs34021505 Benign
23820 P29317 (EPHA2) R Q 721 rs116506614 Disease: Cataract 6, multiple types (CTRCT6) [MIM:116600]
23821 P29317 (EPHA2) R H 876 rs35903225 Benign
23822 P29317 (EPHA2) T I 940 rs137853200 Disease: Cataract 6, multiple types (CTRCT6) [MIM:116600]
23823 P29317 (EPHA2) G W 948 rs137853199 Disease: Cataract 6, multiple types (CTRCT6) [MIM:116600]
23824 P29320 (EPHA3) I V 564 rs55712516 Benign
23825 P29320 (EPHA3) C S 568 rs56077781 Benign
23826 P29320 (EPHA3) L P 590 rs56081642 Benign
23827 P29320 (EPHA3) A G 777 rs34437982 Benign
23828 P29320 (EPHA3) R H 914 rs17801309 Benign
23829 P29320 (EPHA3) W R 924 rs35124509 Benign
23830 P29322 (EPHA8) G S 45 rs45498698 Benign
23831 P29322 (EPHA8) V L 60 rs56402644 Benign
23832 P29322 (EPHA8) P L 321 rs56656925 Benign
23833 P29322 (EPHA8) V M 444 rs2295021 Benign
23834 P29322 (EPHA8) E Q 612 rs999765 Benign
23835 P29323 (EPHB2) R H 199 rs201754821 Disease: Prostate cancer (PC) [MIM:176807]
23836 P29323 (EPHB2) A S 279 rs35882952 Disease: Prostate cancer (PC) [MIM:176807]
23837 P29323 (EPHB2) C G 289 - Benign
23838 P29323 (EPHB2) I V 361 rs56180036 Benign
23839 P29323 (EPHB2) V A 650 rs142173175 Disease: Prostate cancer (PC) [MIM:176807]
23840 P29323 (EPHB2) D N 678 rs28936395 Benign
23841 P29323 (EPHB2) H N 679 - Disease: Prostate cancer (PC) [MIM:176807]
23842 P29323 (EPHB2) R C 745 - Disease: Bleeding disorder, platelet- type 22 (BDPLT22) [MIM:618462]
23843 P29323 (EPHB2) R W 844 rs55826626 Benign
23844 P29323 (EPHB2) M V 883 rs372653137 Disease: Prostate cancer (PC) [MIM:176807]
23845 P29323 (EPHB2) I M 909 - Disease: Prostate cancer (PC) [MIM:176807]
23846 P29353 (SHC1) A V 205 rs8191981 Benign
23847 P29353 (SHC1) M V 410 rs8191979 Benign
23848 P29371 (TACR3) G D 93 rs121918124 Disease: Hypogonadotr opic hypogonadism 11 with or without anosmia (HH11) [MIM:614840]
23849 P29371 (TACR3) F V 137 - Disease: Hypogonadotr opic hypogonadism 11 with or without anosmia (HH11) [MIM:614840]
23850 P29371 (TACR3) K R 286 rs2276973 Benign
23851 P29371 (TACR3) M V 346 rs200148989 Disease: Hypogonadotr opic hypogonadism 11 with or without anosmia (HH11) [MIM:614840]
23852 P29371 (TACR3) P S 353 rs121918125 Disease: Hypogonadotr opic hypogonadism 11 with or without anosmia (HH11) [MIM:614840]
23853 P29371 (TACR3) R Q 364 rs150288991 Disease: Hypogonadotr opic hypogonadism 11 with or without anosmia (HH11) [MIM:614840]
23854 P29371 (TACR3) A T 449 rs17033889 Benign
23855 P29372 (MPG) K Q 22 rs3176383 Benign
23856 P29372 (MPG) P L 64 rs2308315 Benign
23857 P29372 (MPG) Y H 71 rs2266607 Benign
23858 P29372 (MPG) Q R 93 rs25671 Benign
23859 P29372 (MPG) R C 120 rs2308313 Benign
23860 P29372 (MPG) R Q 141 rs2308312 Benign
23861 P29372 (MPG) A V 258 rs769193 Benign
23862 P29372 (MPG) A S 298 rs2234949 Benign
23863 P29374 (ARID4A) H P 412 rs34982206 Benign
23864 P29374 (ARID4A) N S 724 rs2230098 Benign
23865 P29374 (ARID4A) T A 779 rs1051858 Benign
23866 P29375 (KDM5A) M T 865 rs11062385 Benign
23867 P29375 (KDM5A) P A 1190 rs2229353 Benign
23868 P29376 (LTK) R Q 42 rs2305030 Benign
23869 P29376 (LTK) C R 384 rs55683312 Benign
23870 P29376 (LTK) D N 535 rs35932273 Benign
23871 P29376 (LTK) R S 569 rs148513655 Benign
23872 P29376 (LTK) R Q 673 rs55876255 Benign
23873 P29376 (LTK) P S 745 rs55900837 Benign
23874 P29376 (LTK) E K 763 rs76282169 Benign
23875 P29376 (LTK) P S 838 rs56367146 Benign
23876 P29400 (COL4A5) G D 54 rs104886043 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23877 P29400 (COL4A5) G S 114 - Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23878 P29400 (COL4A5) G E 123 - Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23879 P29400 (COL4A5) G E 129 rs281874723 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23880 P29400 (COL4A5) G V 129 rs281874723 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23881 P29400 (COL4A5) G R 174 rs104886055 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23882 P29400 (COL4A5) G C 177 rs104886056 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23883 P29400 (COL4A5) G R 177 rs104886056 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23884 P29400 (COL4A5) G R 192 rs104886060 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23885 P29400 (COL4A5) G V 204 rs104886063 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23886 P29400 (COL4A5) G R 216 rs104886067 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23887 P29400 (COL4A5) G S 219 rs104886075 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23888 P29400 (COL4A5) G R 230 rs104886076 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23889 P29400 (COL4A5) G E 239 rs104886068 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23890 P29400 (COL4A5) G R 264 rs104886069 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23891 P29400 (COL4A5) G V 289 rs104886450 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23892 P29400 (COL4A5) G R 292 rs104886073 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23893 P29400 (COL4A5) G V 292 rs104886078 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23894 P29400 (COL4A5) G D 295 rs104886079 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23895 P29400 (COL4A5) G S 298 rs104886080 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23896 P29400 (COL4A5) G R 319 rs104886085 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23897 P29400 (COL4A5) G E 325 rs104886091 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23898 P29400 (COL4A5) G R 325 rs104886088 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23899 P29400 (COL4A5) G V 331 rs104886092 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23900 P29400 (COL4A5) G E 365 rs104886096 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23901 P29400 (COL4A5) G E 371 rs104886097 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23902 P29400 (COL4A5) G A 374 rs104886108 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23903 P29400 (COL4A5) G D 383 rs104886105 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23904 P29400 (COL4A5) G E 400 rs104886107 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23905 P29400 (COL4A5) G V 406 rs104886100 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23906 P29400 (COL4A5) G D 409 rs104886101 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23907 P29400 (COL4A5) G V 412 rs104886102 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23908 P29400 (COL4A5) G R 415 rs104886103 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23909 P29400 (COL4A5) G E 420 rs281874663 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23910 P29400 (COL4A5) G V 420 - Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23911 P29400 (COL4A5) G E 423 rs104886110 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23912 P29400 (COL4A5) A D 430 rs142883891 Benign
23913 P29400 (COL4A5) I S 444 rs2272946 Benign
23914 P29400 (COL4A5) G E 466 rs104886114 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23915 P29400 (COL4A5) G R 472 rs104886116 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23916 P29400 (COL4A5) G E 491 rs104886117 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23917 P29400 (COL4A5) G D 494 rs104886118 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23918 P29400 (COL4A5) G C 497 rs104886120 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23919 P29400 (COL4A5) G C 521 rs104886121 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23920 P29400 (COL4A5) G S 521 rs104886121 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23921 P29400 (COL4A5) G D 524 rs104886119 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23922 P29400 (COL4A5) G R 545 rs104886126 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23923 P29400 (COL4A5) G V 545 rs104886127 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23924 P29400 (COL4A5) G R 558 rs104886129 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23925 P29400 (COL4A5) G R 561 rs104886136 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23926 P29400 (COL4A5) G A 567 rs104886137 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23927 P29400 (COL4A5) G D 573 rs104886138 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23928 P29400 (COL4A5) G E 579 rs104886130 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23929 P29400 (COL4A5) G R 579 rs104886139 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23930 P29400 (COL4A5) G V 603 rs104886133 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23931 P29400 (COL4A5) G R 609 rs104886135 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23932 P29400 (COL4A5) G V 609 rs104886140 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23933 P29400 (COL4A5) P S 619 - Benign
23934 P29400 (COL4A5) G C 621 rs104886141 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23935 P29400 (COL4A5) G D 624 rs104886142 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23936 P29400 (COL4A5) G D 629 rs104886144 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23937 P29400 (COL4A5) G D 632 rs104886145 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23938 P29400 (COL4A5) E K 633 rs104886146 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23939 P29400 (COL4A5) G D 635 rs281874683 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23940 P29400 (COL4A5) G A 638 rs104886134 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23941 P29400 (COL4A5) G S 638 rs104886147 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23942 P29400 (COL4A5) G V 638 rs104886134 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23943 P29400 (COL4A5) G R 653 rs104886150 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23944 P29400 (COL4A5) K N 664 rs34077552 Benign
23945 P29400 (COL4A5) G A 669 rs104886151 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23946 P29400 (COL4A5) G D 681 rs104886158 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23947 P29400 (COL4A5) G V 684 rs104886160 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23948 P29400 (COL4A5) G E 687 rs104886168 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23949 P29400 (COL4A5) G E 722 rs104886163 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23950 P29400 (COL4A5) P A 739 rs104886164 Benign
23951 P29400 (COL4A5) P S 739 rs104886164 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23952 P29400 (COL4A5) G E 740 rs104886165 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23953 P29400 (COL4A5) G D 743 rs104886166 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23954 P29400 (COL4A5) G D 772 rs104886173 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23955 P29400 (COL4A5) G R 796 rs104886177 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23956 P29400 (COL4A5) G R 802 rs104886179 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23957 P29400 (COL4A5) G E 808 rs104886180 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23958 P29400 (COL4A5) G V 811 rs104886183 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23959 P29400 (COL4A5) G R 822 rs104886184 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23960 P29400 (COL4A5) G E 852 rs104886187 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23961 P29400 (COL4A5) G R 852 rs104886186 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23962 P29400 (COL4A5) G E 866 rs104886188 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23963 P29400 (COL4A5) G R 869 rs104886189 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23964 P29400 (COL4A5) G R 872 rs104886190 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23965 P29400 (COL4A5) G R 878 - Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23966 P29400 (COL4A5) M V 898 rs104886192 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23967 P29400 (COL4A5) G V 902 - Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23968 P29400 (COL4A5) G E 911 rs104886363 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23969 P29400 (COL4A5) G C 941 rs104886196 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23970 P29400 (COL4A5) G D 947 rs104886370 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23971 P29400 (COL4A5) G V 953 rs78972735 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23972 P29400 (COL4A5) G A 1006 - Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23973 P29400 (COL4A5) G V 1006 rs104886202 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23974 P29400 (COL4A5) G E 1015 - Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23975 P29400 (COL4A5) G V 1015 rs104886211 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23976 P29400 (COL4A5) G S 1030 rs104886210 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23977 P29400 (COL4A5) G V 1036 rs104886212 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23978 P29400 (COL4A5) G S 1039 rs104886214 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23979 P29400 (COL4A5) G E 1045 rs104886215 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23980 P29400 (COL4A5) G R 1066 rs104886219 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23981 P29400 (COL4A5) G S 1066 rs104886219 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23982 P29400 (COL4A5) G D 1086 rs104886232 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23983 P29400 (COL4A5) G V 1104 rs104886224 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23984 P29400 (COL4A5) G R 1107 rs104886225 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23985 P29400 (COL4A5) G D 1143 rs104886229 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23986 P29400 (COL4A5) G S 1143 rs104886228 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23987 P29400 (COL4A5) G R 1158 - Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23988 P29400 (COL4A5) G R 1161 rs104886235 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23989 P29400 (COL4A5) G S 1167 rs104886236 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23990 P29400 (COL4A5) G S 1170 rs104886237 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23991 P29400 (COL4A5) G R 1182 rs104886242 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23992 P29400 (COL4A5) G R 1196 rs104886244 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23993 P29400 (COL4A5) G C 1205 rs104886245 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23994 P29400 (COL4A5) G E 1211 rs104886247 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23995 P29400 (COL4A5) G R 1211 rs104886246 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23996 P29400 (COL4A5) G D 1220 rs104886251 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23997 P29400 (COL4A5) G D 1229 rs104886253 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23998 P29400 (COL4A5) G C 1241 rs104886255 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
23999 P29400 (COL4A5) G D 1244 rs104886261 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24000 P29400 (COL4A5) G S 1252 rs104886262 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24001 P29400 (COL4A5) G E 1261 rs104886264 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24002 P29400 (COL4A5) G S 1270 rs104886257 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24003 P29400 (COL4A5) G S 1333 rs104886266 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24004 P29400 (COL4A5) G S 1357 rs104886267 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24005 P29400 (COL4A5) G V 1379 rs104886269 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24006 P29400 (COL4A5) R C 1410 rs104886270 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24007 P29400 (COL4A5) G W 1421 rs104886272 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24008 P29400 (COL4A5) R C 1422 rs144282156 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24009 P29400 (COL4A5) G V 1427 rs104886274 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24010 P29400 (COL4A5) L M 1428 - Benign
24011 P29400 (COL4A5) G D 1442 rs104886277 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24012 P29400 (COL4A5) G S 1451 rs104886280 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24013 P29400 (COL4A5) G A 1486 rs104886282 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24014 P29400 (COL4A5) S F 1488 rs104886283 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24015 P29400 (COL4A5) A D 1498 rs104886284 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24016 P29400 (COL4A5) R H 1511 rs104886285 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24017 P29400 (COL4A5) P T 1517 rs201220208 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24018 P29400 (COL4A5) W S 1538 rs104886293 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24019 P29400 (COL4A5) P A 1559 rs104886295 Benign
24020 P29400 (COL4A5) R Q 1563 rs281874743 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24021 P29400 (COL4A5) C S 1564 rs104886287 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24022 P29400 (COL4A5) C R 1567 rs104886288 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24023 P29400 (COL4A5) G D 1596 rs104886297 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24024 P29400 (COL4A5) L R 1649 rs104886303 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24025 P29400 (COL4A5) R P 1677 rs104886308 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24026 P29400 (COL4A5) R Q 1677 rs104886308 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24027 P29400 (COL4A5) C W 1678 rs104886311 Disease: Alport syndrome 1, X-linked (ATS1) [MIM:301050]
24028 P29401 (TKT) I V 181 rs17052920 Benign
24029 P29401 (TKT) R C 318 rs782092363 Disease: Short stature, developmenta l delay, and congenital heart defects (SDDHD) [MIM:617044]
24030 P29460 (IL12B) V I 33 rs3213096 Benign
24031 P29460 (IL12B) V F 298 rs3213119 Benign
24032 P29466 (CASP1) R H 15 rs1042743 Benign
24033 P29474 (NOS3) R Q 112 rs3918166 Benign
24034 P29474 (NOS3) D E 298 rs1799983 Benign
24035 P29474 (NOS3) R C 474 rs145805216 Benign
24036 P29474 (NOS3) R Q 602 rs145168353 Benign
24037 P29474 (NOS3) R H 665 rs7792133 Benign
24038 P29474 (NOS3) V M 827 rs3918232 Benign
24039 P29474 (NOS3) R M 885 rs3918201 Benign
24040 P29474 (NOS3) Q L 982 rs3918234 Benign
24041 P29475 (NOS1) P S 228 rs9658279 Benign
24042 P29475 (NOS1) D A 394 rs9658356 Benign
24043 P29475 (NOS1) N D 725 rs9658403 Benign
24044 P29475 (NOS1) G D 864 rs9658445 Benign
24045 P29475 (NOS1) Q R 1064 rs9658482 Benign
24046 P29508 (SERPINB3) G A 351 rs3180227 Benign
24047 P29508 (SERPINB3) T A 357 rs1065205 Benign
24048 P29536 (LMOD1) T M 295 rs2820312 Benign
24049 P29590 (PML) F L 645 rs5742915 Benign
24050 P29597 (TYK2) R H 4 rs12720343 Benign
24051 P29597 (TYK2) A V 81 rs1049619 Benign
24052 P29597 (TYK2) R H 197 rs12720263 Benign
24053 P29597 (TYK2) V F 362 rs2304256 Benign
24054 P29597 (TYK2) G S 363 rs2304255 Benign
24055 P29597 (TYK2) V M 386 rs55956017 Benign
24056 P29597 (TYK2) R Q 442 rs2304254 Benign
24057 P29597 (TYK2) I S 684 rs12720356 Benign
24058 P29597 (TYK2) R W 703 rs55882956 Benign
24059 P29597 (TYK2) P H 820 rs34046749 Benign
24060 P29597 (TYK2) A V 928 rs35018800 Benign
24061 P29597 (TYK2) P A 1104 rs34536443 Benign
24062 P29597 (TYK2) E G 1163 rs55886939 Benign
24063 P29803 (PDHA2) R G 376 rs17024795 Benign
24064 P29965 (CD40LG) M R 36 rs104894774 Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24065 P29965 (CD40LG) G R 38 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24066 P29965 (CD40LG) G R 116 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24067 P29965 (CD40LG) G S 116 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24068 P29965 (CD40LG) A E 123 rs104894778 Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24069 P29965 (CD40LG) H R 125 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24070 P29965 (CD40LG) V A 126 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24071 P29965 (CD40LG) V D 126 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24072 P29965 (CD40LG) W C 140 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24073 P29965 (CD40LG) W G 140 rs104894777 Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24074 P29965 (CD40LG) W R 140 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24075 P29965 (CD40LG) K T 143 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24076 P29965 (CD40LG) G E 144 rs886039326 Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24077 P29965 (CD40LG) T N 147 rs1057521127 Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24078 P29965 (CD40LG) L P 155 rs104894769 Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24079 P29965 (CD40LG) Y C 170 rs756468554 Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24080 P29965 (CD40LG) A D 173 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24081 P29965 (CD40LG) Q R 174 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24082 P29965 (CD40LG) T I 176 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24083 P29965 (CD40LG) L P 195 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24084 P29965 (CD40LG) A D 208 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24085 P29965 (CD40LG) T N 211 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24086 P29965 (CD40LG) G R 219 rs148594123 Benign
24087 P29965 (CD40LG) H Y 224 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24088 P29965 (CD40LG) G A 226 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24089 P29965 (CD40LG) G V 227 rs104894768 Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24090 P29965 (CD40LG) L S 231 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24091 P29965 (CD40LG) A P 235 rs104894771 Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24092 P29965 (CD40LG) V E 237 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24093 P29965 (CD40LG) T M 254 rs193922136 Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24094 P29965 (CD40LG) G D 257 rs1477466218 Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24095 P29965 (CD40LG) G S 257 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24096 P29965 (CD40LG) L S 258 - Disease: Immunodefici ency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
24097 P29966 (MARCKS) P L 250 rs45593337 Benign
24098 P29966 (MARCKS) A V 274 rs3734458 Benign
24099 P29972 (AQP1) P L 38 rs104894004 Benign
24100 P29972 (AQP1) A V 45 rs28362692 Benign
24101 P29972 (AQP1) G D 165 rs28362731 Benign
24102 P29973 (CNGA1) R Q 32 rs76537883 Benign
24103 P29973 (CNGA1) D N 118 rs28642966 Benign
24104 P29973 (CNGA1) N D 122 rs28642966 Benign
24105 P29973 (CNGA1) S F 320 rs62625014 Disease: Retinitis pigmentosa 49 (RP49) [MIM:613756]
24106 P29992 (GNA11) R C 60 rs587777021 Disease: Hypocalcemia , autosomal dominant 2 (HYPOC2) [MIM:615361]
24107 P29992 (GNA11) L Q 135 rs587777019 Disease: Hypocalciuri c hypercalcemi a, familial 2 (HHC2) [MIM:145981]
24108 P29992 (GNA11) R Q 181 rs587777020 Disease: Hypocalcemia , autosomal dominant 2 (HYPOC2) [MIM:615361]
24109 P29992 (GNA11) S W 211 rs587777022 Disease: Hypocalcemia , autosomal dominant 2 (HYPOC2) [MIM:615361]
24110 P29992 (GNA11) F L 341 rs140749796 Disease: Hypocalcemia , autosomal dominant 2 (HYPOC2) [MIM:615361]
24111 P30038 (ALDH4A1) P L 16 rs146450609 Benign
24112 P30038 (ALDH4A1) S L 352 rs137852937 Disease: Hyperproline mia 2 (HYRPRO2) [MIM:239510]
24113 P30038 (ALDH4A1) V I 470 rs2230709 Benign
24114 P30038 (ALDH4A1) T A 473 rs6695033 Benign
24115 P30039 (PBLD) R C 17 rs12359690 Benign
24116 P30039 (PBLD) S I 62 rs756247151 Benign
24117 P30039 (PBLD) H R 257 rs4142048 Benign
24118 P30043 (BLVRB) R Q 46 rs11547746 Benign
24119 P30044 (PRDX5) Y C 33 rs7938623 Benign
24120 P30048 (PRDX3) S R 55 rs34698541 Benign
24121 P30048 (PRDX3) R Q 170 rs11554902 Benign
24122 P30048 (PRDX3) A T 218 rs36064375 Benign
24123 P30048 (PRDX3) T I 234 rs35697338 Benign
24124 P30049 (ATP5F1D) P L 82 rs867410737 Disease: Mitochondria l complex V deficiency, nuclear type 5 (MC5DN5) [MIM:618120]
24125 P30049 (ATP5F1D) V G 106 rs1555745989 Disease: Mitochondria l complex V deficiency, nuclear type 5 (MC5DN5) [MIM:618120]
24126 P30084 (ECHS1) A V 2 rs587776498 Disease: Mitochondria l short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
24127 P30084 (ECHS1) V A 11 rs10466126 Benign
24128 P30084 (ECHS1) F S 33 - Disease: Mitochondria l short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
24129 P30084 (ECHS1) R H 54 rs375266808 Disease: Mitochondria l short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
24130 P30084 (ECHS1) N S 59 rs201865375 Disease: Mitochondria l short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
24131 P30084 (ECHS1) I T 66 rs371063211 Disease: Mitochondria l short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
24132 P30084 (ECHS1) T I 75 rs1049951 Benign
24133 P30084 (ECHS1) E Q 77 rs1426014295 Disease: Mitochondria l short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
24134 P30084 (ECHS1) A T 132 rs770931871 Disease: Mitochondria l short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
24135 P30084 (ECHS1) A V 138 rs864309656 Disease: Mitochondria l short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
24136 P30084 (ECHS1) D G 150 - Disease: Mitochondria l short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
24137 P30084 (ECHS1) A D 158 rs786204001 Disease: Mitochondria l short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
24138 P30084 (ECHS1) Q R 159 rs375032130 Disease: Mitochondria l short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
24139 P30084 (ECHS1) G S 195 rs761989177 Disease: Mitochondria l short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
24140 P30084 (ECHS1) C R 225 rs769429279 Disease: Mitochondria l short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
24141 P30084 (ECHS1) K E 273 rs565090080 Disease: Mitochondria l short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]
24142 P30086 (PEBP1) S N 9 - Benign
24143 P30101 (PDIA3) K R 415 rs6413485 Benign
24144 P30153 (PPP2R1A) V L 132 - Disease: Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362]
24145 P30153 (PPP2R1A) P L 179 rs786205228 Disease: Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362]
24146 P30153 (PPP2R1A) R W 182 rs786205227 Disease: Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362]
24147 P30153 (PPP2R1A) R H 258 rs863225094 Disease: Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362]
24148 P30203 (CD6) T M 217 rs11230562 Benign
24149 P30203 (CD6) R W 225 rs11230563 Benign
24150 P30203 (CD6) A V 257 rs2074225 Benign
24151 P30203 (CD6) A T 271 rs12360861 Benign
24152 P30203 (CD6) S N 351 rs34974368 Benign
24153 P30203 (CD6) G S 606 rs2074233 Benign
24154 P30260 (CDC27) Y H 496 rs13666 Benign
24155 P30279 (CCND2) G R 268 rs3217921 Benign
24156 P30279 (CCND2) T A 280 rs587777618 Disease: Megalencepha ly-polymicro gyria- polydactyly- hydrocephalu s syndrome 3 (MPPH3) [MIM:615938]
24157 P30279 (CCND2) T N 280 rs587777620 Disease: Megalencepha ly-polymicro gyria- polydactyly- hydrocephalu s syndrome 3 (MPPH3) [MIM:615938]
24158 P30279 (CCND2) P L 281 rs587777622 Disease: Megalencepha ly-polymicro gyria- polydactyly- hydrocephalu s syndrome 3 (MPPH3) [MIM:615938]
24159 P30279 (CCND2) P R 281 rs587777622 Disease: Megalencepha ly-polymicro gyria- polydactyly- hydrocephalu s syndrome 3 (MPPH3) [MIM:615938]
24160 P30279 (CCND2) V G 284 rs777786993 Disease: Megalencepha ly-polymicro gyria- polydactyly- hydrocephalu s syndrome 3 (MPPH3) [MIM:615938]
24161 P30281 (CCND3) P S 134 rs3218089 Benign
24162 P30281 (CCND3) E D 253 rs33966734 Benign
24163 P30281 (CCND3) S A 259 rs1051130 Benign
24164 P30291 (WEE1) G C 210 rs34412975 Benign
24165 P30291 (WEE1) S I 472 rs56411856 Benign
24166 P30301 (MIP) R C 33 rs864309693 Disease: Cataract 15, multiple types (CTRCT15) [MIM:615274]
24167 P30301 (MIP) V I 107 rs74641138 Disease: Cataract 15, multiple types (CTRCT15) [MIM:615274]
24168 P30301 (MIP) E G 134 rs121917869 Disease: Cataract 15, multiple types (CTRCT15) [MIM:615274]
24169 P30301 (MIP) T R 138 rs121917867 Disease: Cataract 15, multiple types (CTRCT15) [MIM:615274]
24170 P30301 (MIP) D H 150 rs778327521 Disease: Cataract 15, multiple types (CTRCT15) [MIM:615274]
24171 P30301 (MIP) G D 165 - Disease: Cataract 15, multiple types (CTRCT15) [MIM:615274]
24172 P30301 (MIP) R C 187 rs267603585 Disease: Cataract 15, multiple types (CTRCT15) [MIM:615274]
24173 P30301 (MIP) R K 233 - Disease: Cataract 15, multiple types (CTRCT15) [MIM:615274]
24174 P30304 (CDC25A) S F 88 rs3731499 Benign
24175 P30304 (CDC25A) R G 182 rs6771386 Benign
24176 P30304 (CDC25A) R W 182 rs6771386 Benign
24177 P30305 (CDC25B) E K 548 rs11570019 Benign
24178 P30307 (CDC25C) S N 14 rs11567959 Benign
24179 P30307 (CDC25C) R C 70 rs3734166 Benign
24180 P30307 (CDC25C) S N 78 rs11567962 Benign
24181 P30307 (CDC25C) G R 297 rs11567997 Benign
24182 P30411 (BDKRB2) R C 14 rs1046248 Benign
24183 P30411 (BDKRB2) G E 354 rs2227279 Benign
24184 P30414 (NKTR) V G 271 rs35726114 Benign
24185 P30414 (NKTR) L V 861 rs33969824 Benign
24186 P30414 (NKTR) S L 935 rs35770315 Benign
24187 P30414 (NKTR) M T 1182 rs34897686 Benign
24188 P30419 (NMT1) Q K 61 rs3087878 Benign
24189 P30511 (HLA-F) A V 13 rs17875379 Benign
24190 P30511 (HLA-F) P Q 71 rs17875380 Benign
24191 P30511 (HLA-F) P S 272 rs1736924 Benign
24192 P30518 (AVPR2) T S 7 rs5196 Benign
24193 P30518 (AVPR2) G E 12 rs2071126 Benign
24194 P30518 (AVPR2) A V 42 rs5198 Benign
24195 P30518 (AVPR2) L P 43 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24196 P30518 (AVPR2) L P 44 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24197 P30518 (AVPR2) I K 46 rs104894759 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24198 P30518 (AVPR2) L R 53 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24199 P30518 (AVPR2) N D 55 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24200 P30518 (AVPR2) N H 55 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24201 P30518 (AVPR2) L P 59 rs193922112 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24202 P30518 (AVPR2) A V 61 - Benign
24203 P30518 (AVPR2) L P 62 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24204 P30518 (AVPR2) R W 64 rs150351033 Benign
24205 P30518 (AVPR2) H R 80 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24206 P30518 (AVPR2) L F 81 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24207 P30518 (AVPR2) L P 83 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24208 P30518 (AVPR2) L Q 83 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24209 P30518 (AVPR2) A D 84 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24210 P30518 (AVPR2) D N 85 rs104894754 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24211 P30518 (AVPR2) V M 88 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24212 P30518 (AVPR2) Q R 92 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24213 P30518 (AVPR2) L Q 94 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24214 P30518 (AVPR2) P L 95 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24215 P30518 (AVPR2) W R 99 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24216 P30518 (AVPR2) R C 104 rs104894760 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24217 P30518 (AVPR2) F V 105 rs104894758 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24218 P30518 (AVPR2) R C 106 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24219 P30518 (AVPR2) G E 107 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24220 P30518 (AVPR2) C R 112 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24221 P30518 (AVPR2) C Y 112 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24222 P30518 (AVPR2) R W 113 rs28935496 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24223 P30518 (AVPR2) G D 122 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24224 P30518 (AVPR2) G R 122 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24225 P30518 (AVPR2) M K 123 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24226 P30518 (AVPR2) S F 126 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24227 P30518 (AVPR2) S F 127 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24228 P30518 (AVPR2) Y S 128 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24229 P30518 (AVPR2) I F 130 rs796052096 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24230 P30518 (AVPR2) A D 132 rs104894747 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24231 P30518 (AVPR2) L P 135 rs1557100610 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24232 P30518 (AVPR2) R C 137 rs104894761 Disease: Nephrogenic syndrome of inappropriat e antidiuresis (NSIAD) [MIM:300539]
24233 P30518 (AVPR2) R H 137 rs104894756 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24234 P30518 (AVPR2) R L 137 rs104894756 Disease: Nephrogenic syndrome of inappropriat e antidiuresis (NSIAD) [MIM:300539]
24235 P30518 (AVPR2) R S 139 - Benign
24236 P30518 (AVPR2) R P 143 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24237 P30518 (AVPR2) A V 147 rs5200 Benign
24238 P30518 (AVPR2) A P 163 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24239 P30518 (AVPR2) W S 164 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24240 P30518 (AVPR2) S L 167 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24241 P30518 (AVPR2) S T 167 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24242 P30518 (AVPR2) P S 173 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24243 P30518 (AVPR2) Q L 174 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24244 P30518 (AVPR2) R C 181 rs104894757 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24245 P30518 (AVPR2) G C 185 rs104894748 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24246 P30518 (AVPR2) D G 191 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24247 P30518 (AVPR2) G D 201 rs104894755 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24248 P30518 (AVPR2) R C 202 rs782806507 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24249 P30518 (AVPR2) R C 203 rs104894750 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24250 P30518 (AVPR2) T N 204 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24251 P30518 (AVPR2) Y C 205 rs104894749 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24252 P30518 (AVPR2) V D 206 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24253 P30518 (AVPR2) T N 207 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24254 P30518 (AVPR2) I F 209 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24255 P30518 (AVPR2) F S 214 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24256 P30518 (AVPR2) V M 215 rs112109182 Benign
24257 P30518 (AVPR2) P T 217 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24258 P30518 (AVPR2) L P 219 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24259 P30518 (AVPR2) L R 219 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24260 P30518 (AVPR2) R W 252 rs61733407 Benign
24261 P30518 (AVPR2) M K 272 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24262 P30518 (AVPR2) V A 277 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24263 P30518 (AVPR2) Y C 280 rs104894752 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24264 P30518 (AVPR2) L P 282 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24265 P30518 (AVPR2) A P 285 rs193922122 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24266 P30518 (AVPR2) P L 286 rs1557100917 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24267 P30518 (AVPR2) P R 286 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24268 P30518 (AVPR2) P S 286 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24269 P30518 (AVPR2) F L 287 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24270 P30518 (AVPR2) L P 289 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24271 P30518 (AVPR2) L P 292 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24272 P30518 (AVPR2) A P 294 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24273 P30518 (AVPR2) L P 309 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24274 P30518 (AVPR2) L R 309 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24275 P30518 (AVPR2) S R 315 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24276 P30518 (AVPR2) N K 317 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24277 P30518 (AVPR2) S T 318 - Benign
24278 P30518 (AVPR2) C R 319 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24279 P30518 (AVPR2) N D 321 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24280 P30518 (AVPR2) N K 321 rs193922123 Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24281 P30518 (AVPR2) N Y 321 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24282 P30518 (AVPR2) P H 322 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24283 P30518 (AVPR2) P S 322 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24284 P30518 (AVPR2) W R 323 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24285 P30518 (AVPR2) W S 323 - Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]
24286 P30518 (AVPR2) G D 352 rs146350208 Benign
24287 P30519 (HMOX2) R Q 137 rs17884623 Benign
24288 P30519 (HMOX2) P L 146 rs17880805 Benign
24289 P30520 (ADSS2) L F 179 rs12134870 Benign
24290 P30530 (AXL) T M 112 rs35202236 Benign
24291 P30530 (AXL) D N 266 rs7249222 Benign
24292 P30530 (AXL) S G 515 rs1240393707 Benign
24293 P30531 (SLC6A1) R Q 44 rs794726859 Disease: Myoclonic- atonic epilepsy (MAE) [MIM:616421]
24294 P30531 (SLC6A1) A V 288 rs794726860 Disease: Myoclonic- atonic epilepsy (MAE) [MIM:616421]
24295 P30531 (SLC6A1) G R 297 rs876657400 Disease: Myoclonic- atonic epilepsy (MAE) [MIM:616421]
24296 P30531 (SLC6A1) A P 334 rs749240316 Disease: Myoclonic- atonic epilepsy (MAE) [MIM:616421]
24297 P30531 (SLC6A1) P Q 521 rs17855574 Benign
24298 P30532 (CHRNA5) V I 134 rs2229961 Benign
24299 P30532 (CHRNA5) D N 398 rs16969968 Benign
24300 P30533 (LRPAP1) N S 114 rs2228158 Benign
24301 P30533 (LRPAP1) V M 311 rs1800493 Benign
24302 P30536 (TSPO) T A 147 rs6971 Benign
24303 P30536 (TSPO) R H 162 rs6972 Benign
24304 P30536 (TSPO) E Q 169 rs9333342 Benign
24305 P30542 (ADORA1) A S 43 rs11547175 Benign
24306 P30542 (ADORA1) S P 50 rs11547174 Benign
24307 P30542 (ADORA1) R H 105 rs11547176 Benign
24308 P30542 (ADORA1) P Q 261 rs17852405 Benign
24309 P30556 (AGTR1) A T 163 rs12721226 Benign
24310 P30556 (AGTR1) L V 222 rs17852013 Benign
24311 P30556 (AGTR1) A S 244 rs12721225 Benign
24312 P30556 (AGTR1) T M 282 rs104893677 Disease: Renal tubular dysgenesis (RTD) [MIM:267430]
24313 P30556 (AGTR1) C W 289 rs1064533 Benign
24314 P30556 (AGTR1) T P 336 rs1801021 Benign
24315 P30556 (AGTR1) P H 341 rs17852012 Benign
24316 P30559 (OXTR) A S 16 rs237906 Benign
24317 P30559 (OXTR) A T 218 rs4686302 Benign
24318 P30566 (ADSL) A V 2 rs143083947 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24319 P30566 (ADSL) A V 3 - Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24320 P30566 (ADSL) M L 26 rs1311171245 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24321 P30566 (ADSL) S N 31 rs5757921 Benign
24322 P30566 (ADSL) I V 72 - Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24323 P30566 (ADSL) P A 100 rs119450942 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24324 P30566 (ADSL) Y H 114 rs374259530 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24325 P30566 (ADSL) R W 141 rs756210458 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24326 P30566 (ADSL) K M 147 rs11089991 Benign
24327 P30566 (ADSL) R Q 190 rs28941471 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24328 P30566 (ADSL) R C 194 rs1465152683 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24329 P30566 (ADSL) K E 246 rs119450944 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24330 P30566 (ADSL) D N 268 rs746501563 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24331 P30566 (ADSL) R C 303 rs373458753 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24332 P30566 (ADSL) L V 311 - Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24333 P30566 (ADSL) P L 318 rs202064195 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24334 P30566 (ADSL) V M 364 rs370851726 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24335 P30566 (ADSL) R W 374 rs376533026 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24336 P30566 (ADSL) S R 395 - Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24337 P30566 (ADSL) R C 396 rs755492501 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24338 P30566 (ADSL) R H 396 rs763542069 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24339 P30566 (ADSL) D Y 422 rs119450943 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24340 P30566 (ADSL) L V 423 - Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24341 P30566 (ADSL) R H 426 rs119450941 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24342 P30566 (ADSL) D N 430 rs554254383 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24343 P30566 (ADSL) S P 438 rs119450940 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24344 P30566 (ADSL) S P 447 rs777821034 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24345 P30566 (ADSL) T S 450 rs372895468 Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24346 P30566 (ADSL) R P 452 - Disease: Adenylosucci nase deficiency (ADSLD) [MIM:103050]
24347 P30613 (PKLR) G E 37 rs118204087 Disease: Pyruvate kinase hyperactivit y (PKHYP) [MIM:102900]
24348 P30613 (PKLR) R W 40 rs1484388413 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24349 P30613 (PKLR) L P 73 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24350 P30613 (PKLR) S P 80 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24351 P30613 (PKLR) R P 86 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24352 P30613 (PKLR) I N 90 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24353 P30613 (PKLR) G R 95 rs750857114 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24354 P30613 (PKLR) M T 107 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24355 P30613 (PKLR) G R 111 rs918627824 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24356 P30613 (PKLR) A P 115 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24357 P30613 (PKLR) S F 120 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24358 P30613 (PKLR) S Y 130 rs118204089 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24359 P30613 (PKLR) V D 134 rs574051756 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24360 P30613 (PKLR) I T 153 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24361 P30613 (PKLR) A T 154 rs780192373 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24362 P30613 (PKLR) L P 155 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24363 P30613 (PKLR) G V 159 rs1239029841 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24364 P30613 (PKLR) R C 163 rs118204083 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24365 P30613 (PKLR) R L 163 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24366 P30613 (PKLR) G V 165 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24367 P30613 (PKLR) E Q 172 rs757359024 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24368 P30613 (PKLR) I T 219 rs200572803 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24369 P30613 (PKLR) G A 222 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24370 P30613 (PKLR) G R 263 rs1253386414 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24371 P30613 (PKLR) G W 263 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24372 P30613 (PKLR) L V 272 rs147659527 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24373 P30613 (PKLR) G R 275 rs747549978 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24374 P30613 (PKLR) D N 281 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24375 P30613 (PKLR) F V 287 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24376 P30613 (PKLR) V L 288 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24377 P30613 (PKLR) D N 293 rs1352610988 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24378 P30613 (PKLR) A V 295 rs766353400 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24379 P30613 (PKLR) I N 310 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24380 P30613 (PKLR) I T 314 rs981505482 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24381 P30613 (PKLR) E K 315 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24382 P30613 (PKLR) V L 320 rs549295725 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24383 P30613 (PKLR) D E 331 rs138476691 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24384 P30613 (PKLR) D N 331 rs773893686 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24385 P30613 (PKLR) G S 332 rs773626254 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24386 P30613 (PKLR) V M 335 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24387 P30613 (PKLR) A S 336 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24388 P30613 (PKLR) R P 337 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24389 P30613 (PKLR) R Q 337 rs1167329263 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24390 P30613 (PKLR) D H 339 rs747097960 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24391 P30613 (PKLR) G A 341 rs1227427396 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24392 P30613 (PKLR) G D 341 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24393 P30613 (PKLR) I F 342 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24394 P30613 (PKLR) K N 348 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24395 P30613 (PKLR) A D 352 rs1240481888 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24396 P30613 (PKLR) I T 357 rs779152555 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24397 P30613 (PKLR) G E 358 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24398 P30613 (PKLR) R C 359 rs138871700 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24399 P30613 (PKLR) R H 359 rs1376070580 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24400 P30613 (PKLR) N D 361 rs765903674 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24401 P30613 (PKLR) G D 364 rs981579065 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24402 P30613 (PKLR) V F 368 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24403 P30613 (PKLR) L P 374 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24404 P30613 (PKLR) S I 376 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24405 P30613 (PKLR) T M 384 rs74315362 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24406 P30613 (PKLR) R W 385 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24407 P30613 (PKLR) E G 387 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24408 P30613 (PKLR) D N 390 rs147034239 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24409 P30613 (PKLR) A T 392 rs1403323591 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24410 P30613 (PKLR) N K 393 rs1168490341 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24411 P30613 (PKLR) N S 393 rs776594413 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24412 P30613 (PKLR) A D 394 rs1035640530 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24413 P30613 (PKLR) A V 394 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24414 P30613 (PKLR) T A 408 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24415 P30613 (PKLR) T I 408 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24416 P30613 (PKLR) Q K 421 rs118204084 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24417 P30613 (PKLR) R Q 426 rs768002493 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24418 P30613 (PKLR) R W 426 rs1023689443 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24419 P30613 (PKLR) E A 427 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24420 P30613 (PKLR) E D 427 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24421 P30613 (PKLR) A T 431 rs762591322 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24422 P30613 (PKLR) G D 458 rs755522396 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24423 P30613 (PKLR) A V 459 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24424 P30613 (PKLR) V M 460 rs752034960 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24425 P30613 (PKLR) A G 468 rs750540943 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24426 P30613 (PKLR) A V 468 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24427 P30613 (PKLR) T A 477 rs759466273 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24428 P30613 (PKLR) R H 479 rs118204085 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24429 P30613 (PKLR) S F 485 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24430 P30613 (PKLR) R W 486 rs116100695 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24431 P30613 (PKLR) R Q 488 rs369183199 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24432 P30613 (PKLR) R W 490 rs200133000 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24433 P30613 (PKLR) A T 495 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24434 P30613 (PKLR) A V 495 rs141560532 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24435 P30613 (PKLR) R C 498 rs551883218 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24436 P30613 (PKLR) R H 498 rs758327704 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24437 P30613 (PKLR) R L 504 rs185753709 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24438 P30613 (PKLR) V I 506 rs8177988 Benign
24439 P30613 (PKLR) R Q 510 rs113403872 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24440 P30613 (PKLR) G R 511 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24441 P30613 (PKLR) R C 531 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24442 P30613 (PKLR) R Q 532 rs758278200 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24443 P30613 (PKLR) R W 532 rs201255024 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24444 P30613 (PKLR) V M 552 rs370316462 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24445 P30613 (PKLR) G A 557 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24446 P30613 (PKLR) R G 559 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24447 P30613 (PKLR) N K 566 - Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24448 P30613 (PKLR) R Q 569 rs61755431 Disease: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
24449 P30622 (CLIP1) S P 162 rs7963597 Benign
24450 P30622 (CLIP1) R W 780 rs3741447 Benign
24451 P30622 (CLIP1) S P 941 rs17883517 Benign
24452 P30622 (CLIP1) D E 1080 rs1129167 Benign
24453 P30622 (CLIP1) A S 1224 rs17881033 Benign
24454 P30679 (GNA15) Y C 147 rs310680 Benign
24455 P30711 (GSTT1) A T 21 rs2266635 Benign
24456 P30711 (GSTT1) D N 141 rs2266633 Benign
24457 P30711 (GSTT1) V I 169 rs2266637 Benign
24458 P30711 (GSTT1) E K 173 rs2234953 Benign
24459 P30740 (SERPINB1) A V 82 rs34825616 Benign
24460 P30793 (GCH1) P L 23 rs41298432 Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24461 P30793 (GCH1) L Q 71 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24462 P30793 (GCH1) A V 74 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24463 P30793 (GCH1) L P 79 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24464 P30793 (GCH1) G A 83 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24465 P30793 (GCH1) R P 88 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24466 P30793 (GCH1) R W 88 rs104894433 Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24467 P30793 (GCH1) G V 90 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24468 P30793 (GCH1) A V 98 - Benign
24469 P30793 (GCH1) M K 102 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24470 P30793 (GCH1) M R 102 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24471 P30793 (GCH1) T I 106 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24472 P30793 (GCH1) G D 108 rs104894435 Disease: Hyperphenyla laninemia, BH4-deficien t, B (HPABH4B) [MIM:233910]
24473 P30793 (GCH1) D N 115 rs1393095176 Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24474 P30793 (GCH1) D V 134 rs104894437 Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24475 P30793 (GCH1) I T 135 - Benign
24476 P30793 (GCH1) I K 135 rs104894441 Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24477 P30793 (GCH1) C R 141 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24478 P30793 (GCH1) C W 141 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24479 P30793 (GCH1) H P 144 rs104894440 Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24480 P30793 (GCH1) H P 153 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24481 P30793 (GCH1) L R 163 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24482 P30793 (GCH1) S T 176 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24483 P30793 (GCH1) R S 178 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24484 P30793 (GCH1) Q R 180 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24485 P30793 (GCH1) R H 184 rs104894445 Disease: Hyperphenyla laninemia, BH4-deficien t, B (HPABH4B) [MIM:233910]
24486 P30793 (GCH1) T K 186 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24487 P30793 (GCH1) V I 191 rs762208304 Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24488 P30793 (GCH1) P L 199 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24489 P30793 (GCH1) G E 201 rs104894438 Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24490 P30793 (GCH1) G R 203 rs988395114 Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24491 P30793 (GCH1) M I 211 rs104894443 Disease: Hyperphenyla laninemia, BH4-deficien t, B (HPABH4B) [MIM:233910]
24492 P30793 (GCH1) M V 211 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24493 P30793 (GCH1) M V 213 rs1348562494 Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24494 P30793 (GCH1) M T 221 rs104894434 Disease: Hyperphenyla laninemia, BH4-deficien t, B (HPABH4B) [MIM:233910]
24495 P30793 (GCH1) K R 224 rs41298442 Disease: Hyperphenyla laninemia, BH4-deficien t, B (HPABH4B) [MIM:233910]
24496 P30793 (GCH1) F S 234 - Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24497 P30793 (GCH1) R W 241 rs1375209791 Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24498 P30793 (GCH1) R S 249 rs104894442 Disease: Dystonia, dopa- responsive (DRD) [MIM:128230]
24499 P30837 (ALDH1B1) A V 86 rs2228093 Benign
24500 P30837 (ALDH1B1) L R 107 rs2073478 Benign
24501 P30837 (ALDH1B1) T I 202 rs4646773 Benign
24502 P30837 (ALDH1B1) V M 253 rs4878199 Benign
24503 P30838 (ALDH3A1) S A 134 rs887241 Benign
24504 P30838 (ALDH3A1) G E 309 rs3744692 Benign
24505 P30838 (ALDH3A1) P A 329 rs2228100 Benign
24506 P30926 (CHRNB4) T I 91 rs12914008 Benign
24507 P30926 (CHRNB4) R W 136 rs141876090 Benign
24508 P30926 (CHRNB4) S G 140 rs56218866 Benign
24509 P30926 (CHRNB4) M V 467 rs61737502 Benign
24510 P30953 (OR1E1) P L 129 rs1735011 Benign
24511 P30953 (OR1E1) A T 143 rs150989 Benign
24512 P30953 (OR1E1) S P 262 rs379856 Benign
24513 P30954 (OR10J1) M I 62 rs10908722 Benign
24514 P30954 (OR10J1) I M 103 rs12048482 Benign
24515 P30954 (OR10J1) M I 112 rs12118628 Benign
24516 P30968 (GNRHR) N K 10 rs104893843 Disease: Hypogonadotr opic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
24517 P30968 (GNRHR) N S 18 rs774317793 Disease: Hypogonadotr opic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
24518 P30968 (GNRHR) I S 37 rs886907903 Disease: Hypogonadotr opic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
24519 P30968 (GNRHR) L V 83 rs1391808526 Disease: Hypogonadotr opic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
24520 P30968 (GNRHR) E D 90 - Disease: Hypogonadotr opic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
24521 P30968 (GNRHR) E K 90 rs104893844 Disease: Hypogonadotr opic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
24522 P30968 (GNRHR) Q R 106 rs104893836 Disease: Hypogonadotr opic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
24523 P30968 (GNRHR) A D 129 rs104893838 Disease: Hypogonadotr opic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
24524 P30968 (GNRHR) R H 139 rs104893842 Disease: Hypogonadotr opic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
24525 P30968 (GNRHR) P S 146 rs144900788 Disease: Hypogonadotr opic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
24526 P30968 (GNRHR) S R 168 rs104893840 Disease: Hypogonadotr opic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
24527 P30968 (GNRHR) A T 171 rs74452732 Disease: Hypogonadotr opic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
24528 P30968 (GNRHR) S R 217 rs104893839 Disease: Hypogonadotr opic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
24529 P30968 (GNRHR) Y C 284 rs28933074 Disease: Hypogonadotr opic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]
24530 P30988 (CALCR) P L 447 rs1801197 Benign
24531 P30989 (NTSR1) A V 72 rs11698783 Benign
24532 P30989 (NTSR1) Q H 275 rs35373650 Benign
24533 P30989 (NTSR1) V I 304 rs2273075 Benign
24534 P31040 (SDHA) F V 33 rs1061518 Benign
24535 P31040 (SDHA) D V 38 rs34635677 Benign
24536 P31040 (SDHA) C G 189 - Disease: Leigh syndrome (LS) [MIM:256000]
24537 P31040 (SDHA) E Q 240 rs1041946 Benign
24538 P31040 (SDHA) V I 333 rs1062468 Benign
24539 P31040 (SDHA) A V 524 rs137852767 Disease: Leigh syndrome (LS) [MIM:256000]
24540 P31040 (SDHA) R W 554 rs9809219 Disease: Leigh syndrome (LS) [MIM:256000]
24541 P31040 (SDHA) G E 555 rs137852768 Disease: Mitochondria l complex II deficiency (MT-C2D) [MIM:252011]
24542 P31040 (SDHA) R W 589 rs387906780 Disease: Paragangliom as 5 (PGL5) [MIM:614165]
24543 P31040 (SDHA) Y F 629 rs6960 Benign
24544 P31040 (SDHA) V I 657 rs6962 Benign
24545 P31146 (CORO1A) V M 134 rs397514755 Disease: Immunodefici ency 8 (IMD8) [MIM:615401]
24546 P31146 (CORO1A) R K 415 rs1804109 Benign
24547 P31150 (GDI1) L P 92 rs121434607 Disease: Mental retardation, X-linked 41 (MRX41) [MIM:300849]
24548 P31150 (GDI1) R P 423 rs121434609 Disease: Mental retardation, X-linked 41 (MRX41) [MIM:300849]
24549 P31151 (S100A7) E D 28 rs3014837 Benign
24550 P31152 (MAPK4) V M 38 rs3752087 Benign
24551 P31152 (MAPK4) R P 371 rs3752089 Benign
24552 P31213 (SRD5A2) C R 5 rs61748120 Benign
24553 P31213 (SRD5A2) P R 48 rs61748122 Benign
24554 P31213 (SRD5A2) A T 49 rs9282858 Benign
24555 P31213 (SRD5A2) A T 51 rs61748123 Benign
24556 P31213 (SRD5A2) L Q 55 rs121434245 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24557 P31213 (SRD5A2) G D 85 rs1351269392 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24558 P31213 (SRD5A2) V L 89 rs523349 Benign
24559 P31213 (SRD5A2) L V 113 rs28383048 Benign
24560 P31213 (SRD5A2) G D 115 rs121434246 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24561 P31213 (SRD5A2) G R 123 rs1331249320 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24562 P31213 (SRD5A2) Q R 126 rs368386747 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24563 P31213 (SRD5A2) R W 145 rs759561106 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24564 P31213 (SRD5A2) G R 158 - Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24565 P31213 (SRD5A2) P L 181 rs1057517829 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24566 P31213 (SRD5A2) G S 183 rs121434247 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24567 P31213 (SRD5A2) T M 187 rs61748125 Benign
24568 P31213 (SRD5A2) F L 194 rs61748126 Benign
24569 P31213 (SRD5A2) G S 196 rs121434250 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24570 P31213 (SRD5A2) E D 197 rs121434253 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24571 P31213 (SRD5A2) E K 200 rs756853742 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24572 P31213 (SRD5A2) G S 203 rs9332961 Benign
24573 P31213 (SRD5A2) A D 207 rs767564684 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24574 P31213 (SRD5A2) P R 212 rs121434252 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24575 P31213 (SRD5A2) L H 224 rs9332963 Benign
24576 P31213 (SRD5A2) L M 224 rs9332963 Benign
24577 P31213 (SRD5A2) R Q 227 rs9332964 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24578 P31213 (SRD5A2) A T 228 rs121434249 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24579 P31213 (SRD5A2) H R 231 rs121434251 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24580 P31213 (SRD5A2) F L 234 rs9332966 Benign
24581 P31213 (SRD5A2) Y F 235 rs772283403 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24582 P31213 (SRD5A2) S Y 245 rs145712014 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24583 P31213 (SRD5A2) R Q 246 rs9332967 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24584 P31213 (SRD5A2) R W 246 rs121434244 Disease: Pseudovagina l perineoscrot al hypospadias (PPSH) [MIM:264600]
24585 P31249 (HOXD3) S C 129 rs1051932 Benign
24586 P31268 (HOXA7) A T 18 rs2301721 Benign
24587 P31271 (HOXA13) I F 368 - Disease: Hand-foot- genital syndrome (HFG) [MIM:140000]
24588 P31271 (HOXA13) Q L 371 - Disease: Guttmacher syndrome (GUTTS) [MIM:176305]
24589 P31271 (HOXA13) N H 372 rs121912542 Disease: Hand-foot- genital syndrome (HFG) [MIM:140000]
24590 P31271 (HOXA13) V F 375 - Disease: Hand-foot- genital syndrome (HFG) [MIM:140000]
24591 P31276 (HOXC13) S I 50 rs1867298 Benign
24592 P31277 (HOXD11) G D 245 rs376305712 Benign
24593 P31323 (PRKAR2B) E D 335 rs3729881 Benign
24594 P31327 (CPS1) A V 43 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24595 P31327 (CPS1) G D 58 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24596 P31327 (CPS1) S F 65 rs375979196 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24597 P31327 (CPS1) V G 71 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24598 P31327 (CPS1) G E 79 rs1265394565 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24599 P31327 (CPS1) P S 87 rs1553509297 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24600 P31327 (CPS1) Y D 89 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24601 P31327 (CPS1) S F 123 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24602 P31327 (CPS1) D G 165 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24603 P31327 (CPS1) Y N 212 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24604 P31327 (CPS1) D V 224 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24605 P31327 (CPS1) R C 233 rs767905306 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24606 P31327 (CPS1) H P 243 rs752902711 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24607 P31327 (CPS1) G E 258 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24608 P31327 (CPS1) G E 263 rs1471393474 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24609 P31327 (CPS1) K N 280 rs753751183 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24610 P31327 (CPS1) G E 301 rs973321068 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24611 P31327 (CPS1) A V 304 rs775920437 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24612 P31327 (CPS1) G E 317 rs1273594946 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24613 P31327 (CPS1) H R 337 rs28940283 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24614 P31327 (CPS1) L S 341 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24615 P31327 (CPS1) T A 344 rs1047883 Benign
24616 P31327 (CPS1) T S 344 rs1047883 Benign
24617 P31327 (CPS1) N D 355 rs1472190012 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24618 P31327 (CPS1) D H 358 rs149930500 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24619 P31327 (CPS1) P L 382 rs201407486 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24620 P31327 (CPS1) Y C 389 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24621 P31327 (CPS1) L R 390 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24622 P31327 (CPS1) G R 431 rs778766382 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24623 P31327 (CPS1) G V 432 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24624 P31327 (CPS1) A P 438 rs772497399 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24625 P31327 (CPS1) A T 438 rs772497399 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24626 P31327 (CPS1) K E 450 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24627 P31327 (CPS1) V G 457 rs371350538 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24628 P31327 (CPS1) T N 471 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24629 P31327 (CPS1) A P 498 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24630 P31327 (CPS1) V E 531 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24631 P31327 (CPS1) V G 531 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24632 P31327 (CPS1) T M 544 rs121912592 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24633 P31327 (CPS1) R C 587 rs1242028775 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24634 P31327 (CPS1) R H 587 rs1553512642 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24635 P31327 (CPS1) R L 587 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24636 P31327 (CPS1) A T 589 rs777233486 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24637 P31327 (CPS1) G R 593 rs1048119191 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24638 P31327 (CPS1) S L 597 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24639 P31327 (CPS1) V M 622 rs1553512962 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24640 P31327 (CPS1) G D 628 rs1275599086 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24641 P31327 (CPS1) I R 632 rs1553512974 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24642 P31327 (CPS1) R P 638 rs757205958 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24643 P31327 (CPS1) A S 640 rs142693704 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24644 P31327 (CPS1) C Y 648 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24645 P31327 (CPS1) E K 651 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24646 P31327 (CPS1) D V 654 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24647 P31327 (CPS1) G R 661 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24648 P31327 (CPS1) N I 674 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24649 P31327 (CPS1) N K 674 rs1248368809 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24650 P31327 (CPS1) Q P 678 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24651 P31327 (CPS1) N S 698 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24652 P31327 (CPS1) N K 716 rs369061090 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24653 P31327 (CPS1) R K 718 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24654 P31327 (CPS1) R Q 721 rs752339705 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24655 P31327 (CPS1) A P 724 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24656 P31327 (CPS1) A T 726 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24657 P31327 (CPS1) D V 767 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24658 P31327 (CPS1) P L 774 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24659 P31327 (CPS1) R H 780 rs758724746 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24660 P31327 (CPS1) M I 792 rs1553513429 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24661 P31327 (CPS1) R C 803 rs201716417 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24662 P31327 (CPS1) R G 803 rs201716417 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24663 P31327 (CPS1) R S 803 rs201716417 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24664 P31327 (CPS1) F L 805 rs1553513861 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24665 P31327 (CPS1) F S 805 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24666 P31327 (CPS1) Q R 810 rs1553513864 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24667 P31327 (CPS1) R W 814 rs772782772 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24668 P31327 (CPS1) C R 816 rs1553513870 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24669 P31327 (CPS1) L S 843 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24670 P31327 (CPS1) R C 850 rs1015051007 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24671 P31327 (CPS1) R H 850 rs767694281 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24672 P31327 (CPS1) T P 871 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24673 P31327 (CPS1) K E 875 rs147062907 Benign
24674 P31327 (CPS1) G E 911 rs1388955593 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24675 P31327 (CPS1) G V 911 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24676 P31327 (CPS1) S L 913 rs754706559 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24677 P31327 (CPS1) D G 914 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24678 P31327 (CPS1) D H 914 rs765484849 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24679 P31327 (CPS1) S P 918 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24680 P31327 (CPS1) R T 932 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24681 P31327 (CPS1) I N 937 rs760714614 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24682 P31327 (CPS1) A T 949 rs537170841 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24683 P31327 (CPS1) L P 958 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24684 P31327 (CPS1) Y C 959 rs1191587211 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24685 P31327 (CPS1) Y C 962 rs955666400 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24686 P31327 (CPS1) G D 964 rs534815243 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24687 P31327 (CPS1) V E 978 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24688 P31327 (CPS1) G D 982 rs121912595 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24689 P31327 (CPS1) G S 982 rs757059355 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24690 P31327 (CPS1) G V 982 rs121912595 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24691 P31327 (CPS1) Y H 984 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24692 P31327 (CPS1) I T 986 rs1553516442 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24693 P31327 (CPS1) G C 987 rs1553516443 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24694 P31327 (CPS1) F S 992 rs990390709 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24695 P31327 (CPS1) S F 998 rs1404696893 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24696 P31327 (CPS1) N S 1016 rs749238466 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24697 P31327 (CPS1) P L 1017 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24698 P31327 (CPS1) T I 1022 rs1437651658 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24699 P31327 (CPS1) E G 1034 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24700 P31327 (CPS1) H R 1045 rs1241423400 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24701 P31327 (CPS1) I R 1054 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24702 P31327 (CPS1) Q R 1059 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24703 P31327 (CPS1) A E 1065 rs770471782 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24704 P31327 (CPS1) R C 1089 rs1392559810 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24705 P31327 (CPS1) R L 1089 rs1280211937 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24706 P31327 (CPS1) Q R 1103 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24707 P31327 (CPS1) V G 1141 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24708 P31327 (CPS1) A E 1155 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24709 P31327 (CPS1) A V 1155 rs766125631 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24710 P31327 (CPS1) T R 1167 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24711 P31327 (CPS1) E D 1194 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24712 P31327 (CPS1) H P 1195 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24713 P31327 (CPS1) S L 1203 rs149518280 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24714 P31327 (CPS1) S P 1203 rs1319489001 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24715 P31327 (CPS1) D N 1205 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24716 P31327 (CPS1) I V 1215 rs141373204 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24717 P31327 (CPS1) R Q 1228 rs778117194 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24718 P31327 (CPS1) N K 1241 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24719 P31327 (CPS1) E D 1255 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24720 P31327 (CPS1) R P 1262 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24721 P31327 (CPS1) R Q 1262 rs750670270 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24722 P31327 (CPS1) F S 1266 rs1047886 Benign
24723 P31327 (CPS1) D H 1274 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24724 P31327 (CPS1) M L 1283 rs1047887 Benign
24725 P31327 (CPS1) C R 1327 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24726 P31327 (CPS1) S P 1331 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24727 P31327 (CPS1) G E 1333 rs372645328 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24728 P31327 (CPS1) R L 1371 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24729 P31327 (CPS1) G S 1376 rs140578009 Benign
24730 P31327 (CPS1) A T 1378 rs1245373037 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24731 P31327 (CPS1) L S 1381 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24732 P31327 (CPS1) T M 1391 rs1392934477 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24733 P31327 (CPS1) L V 1398 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24734 P31327 (CPS1) T N 1406 rs1047891 Benign
24735 P31327 (CPS1) P L 1411 rs1202306773 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24736 P31327 (CPS1) P L 1439 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24737 P31327 (CPS1) T A 1443 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24738 P31327 (CPS1) R Q 1453 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24739 P31327 (CPS1) R W 1453 rs933813349 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24740 P31327 (CPS1) P R 1462 - Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24741 P31327 (CPS1) Y H 1491 rs1553519513 Disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
24742 P31358 (CD52) N S 40 rs1071849 Benign
24743 P31358 (CD52) I M 41 rs17645 Benign
24744 P31371 (FGF9) I V 94 rs12427696 Benign
24745 P31371 (FGF9) S N 99 rs121918322 Disease: Multiple synostoses syndrome 3 (SYNS3) [MIM:612961]
24746 P31391 (SSTR4) N T 83 rs1065191 Benign
24747 P31391 (SSTR4) G D 236 rs35601930 Benign
24748 P31391 (SSTR4) F V 284 rs3746726 Benign
24749 P31391 (SSTR4) F S 321 rs2567608 Benign
24750 P31415 (CASQ1) D N 44 rs140253806 Disease: Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
24751 P31415 (CASQ1) G D 103 - Disease: Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
24752 P31415 (CASQ1) Y F 140 rs34489853 Benign
24753 P31415 (CASQ1) D G 244 rs730882052 Disease: Myopathy, vacuolar, with CASQ1 aggregates (VMCQA) [MIM:616231]
24754 P31415 (CASQ1) I T 385 rs371278891 Disease: Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
24755 P31431 (SDC4) F L 12 rs2228384 Benign
24756 P31483 (TIA1) E K 384 rs747068278 Disease: Welander distal myopathy (WDM) [MIM:604454]
24757 P31512 (FMO4) I T 37 rs72549338 Benign
24758 P31512 (FMO4) T S 308 rs3737925 Benign
24759 P31512 (FMO4) V A 323 rs1042767 Benign
24760 P31512 (FMO4) E Q 339 rs61342270 Benign
24761 P31512 (FMO4) G S 372 rs45599742 Benign
24762 P31512 (FMO4) F L 536 rs45487792 Benign
24763 P31512 (FMO4) L R 544 rs45528740 Benign
24764 P31513 (FMO3) E K 32 rs72549320 Disease: Trimethylami nuria (TMAU) [MIM:602079]
24765 P31513 (FMO3) A T 52 rs72549321 Disease: Trimethylami nuria (TMAU) [MIM:602079]
24766 P31513 (FMO3) N S 61 rs72549322 Disease: Trimethylami nuria (TMAU) [MIM:602079]
24767 P31513 (FMO3) M I 66 rs72549323 Disease: Trimethylami nuria (TMAU) [MIM:602079]
24768 P31513 (FMO3) D H 132 rs12072582 Benign
24769 P31513 (FMO3) P L 153 rs72549326 Disease: Trimethylami nuria (TMAU) [MIM:602079]
24770 P31513 (FMO3) E K 158 rs2266782 Benign
24771 P31513 (FMO3) D E 198 rs529940450 Benign
24772 P31513 (FMO3) R C 205 rs28363549 Benign
24773 P31513 (FMO3) V M 257 rs1736557 Benign
24774 P31513 (FMO3) V A 277 rs2066530 Benign
24775 P31513 (FMO3) E G 308 rs2266780 Benign
24776 P31513 (FMO3) L P 360 rs28363581 Benign
24777 P31513 (FMO3) E Q 362 rs2066532 Benign
24778 P31513 (FMO3) R L 387 rs72549331 Disease: Trimethylami nuria (TMAU) [MIM:602079]
24779 P31513 (FMO3) K N 416 rs774785217 Benign
24780 P31513 (FMO3) M I 434 rs72549332 Disease: Trimethylami nuria (TMAU) [MIM:602079]
24781 P31513 (FMO3) R W 492 rs72549334 Disease: Trimethylami nuria (TMAU) [MIM:602079]
24782 P31513 (FMO3) G R 503 rs72549335 Benign
24783 P31629 (HIVEP2) R Q 46 rs17072013 Benign
24784 P31629 (HIVEP2) A V 1041 rs34875559 Benign
24785 P31629 (HIVEP2) L I 1293 rs35675714 Benign
24786 P31629 (HIVEP2) L P 1538 rs109836 Benign
24787 P31639 (SLC5A2) N S 654 rs61742739 Disease: Renal glucosuria (GLYS) [MIM:233100]
24788 P31641 (SLC6A6) I M 17 rs1042350 Benign
24789 P31641 (SLC6A6) L V 18 rs1042351 Benign
24790 P31641 (SLC6A6) A E 78 - Disease: -
24791 P31641 (SLC6A6) G V 399 - Disease: -
24792 P31644 (GABRA5) V F 294 - Disease: Epileptic encephalopat hy, early infantile, 79 (EIEE79) [MIM:618559]
24793 P31644 (GABRA5) V L 294 - Disease: Epileptic encephalopat hy, early infantile, 79 (EIEE79) [MIM:618559]
24794 P31644 (GABRA5) S F 413 - Disease: Epileptic encephalopat hy, early infantile, 79 (EIEE79) [MIM:618559]
24795 P31645 (SLC6A4) G A 56 rs6355 Benign
24796 P31645 (SLC6A4) K N 201 rs2228673 Benign
24797 P31645 (SLC6A4) I L 425 rs28914832 Benign
24798 P31645 (SLC6A4) I V 425 rs28914832 Benign
24799 P31645 (SLC6A4) F L 465 rs28914833 Benign
24800 P31645 (SLC6A4) L V 550 rs28914834 Benign
24801 P31645 (SLC6A4) K N 605 rs6352 Benign
24802 P31749 (AKT1) E K 17 rs121434592 Disease: Proteus syndrome (PROTEUSS) [MIM:176920]
24803 P31749 (AKT1) R C 25 rs397514644 Disease: Cowden syndrome 6 (CWS6) [MIM:615109]
24804 P31749 (AKT1) V A 167 rs11555433 Benign
24805 P31749 (AKT1) T P 435 rs397514645 Disease: Cowden syndrome 6 (CWS6) [MIM:615109]
24806 P31751 (AKT2) E K 17 rs387906659 Disease: Hypoinsuline mic hypoglycemia with hemihypertro phy (HIHGHH) [MIM:240900]
24807 P31751 (AKT2) I V 188 rs55859611 Benign
24808 P31751 (AKT2) R K 208 rs35817154 Benign
24809 P31751 (AKT2) R H 274 rs121434593 Disease: Diabetes mellitus, non-insulin- dependent (NIDDM) [MIM:125853]
24810 P31785 (IL2RG) D N 39 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24811 P31785 (IL2RG) T S 44 rs7885041 Benign
24812 P31785 (IL2RG) C G 62 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24813 P31785 (IL2RG) E G 68 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24814 P31785 (IL2RG) E K 68 rs1057520644 Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24815 P31785 (IL2RG) N K 84 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24816 P31785 (IL2RG) Y C 89 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24817 P31785 (IL2RG) Y C 105 rs193922347 Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24818 P31785 (IL2RG) E K 109 rs17875899 Benign
24819 P31785 (IL2RG) G D 114 rs111033620 Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24820 P31785 (IL2RG) C F 115 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24821 P31785 (IL2RG) C R 115 rs111033622 Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24822 P31785 (IL2RG) H P 123 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24823 P31785 (IL2RG) Y N 125 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24824 P31785 (IL2RG) Q P 144 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24825 P31785 (IL2RG) I N 153 rs111033621 Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24826 P31785 (IL2RG) A V 156 rs1057521062 Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24827 P31785 (IL2RG) L H 162 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24828 P31785 (IL2RG) L P 172 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24829 P31785 (IL2RG) L Q 172 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24830 P31785 (IL2RG) C R 182 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24831 P31785 (IL2RG) L S 183 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24832 P31785 (IL2RG) R C 222 rs111033618 Disease: X-linked combined immunodefici ency (XCID) [MIM:312863]
24833 P31785 (IL2RG) R W 224 rs869320658 Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24834 P31785 (IL2RG) R C 226 rs869320659 Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24835 P31785 (IL2RG) R H 226 rs869320660 Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24836 P31785 (IL2RG) F C 227 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24837 P31785 (IL2RG) L P 230 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24838 P31785 (IL2RG) C Y 231 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24839 P31785 (IL2RG) G R 232 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24840 P31785 (IL2RG) W C 240 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24841 P31785 (IL2RG) S I 241 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24842 P31785 (IL2RG) M R 270 - Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24843 P31785 (IL2RG) R Q 285 rs111033617 Disease: Severe combined immunodefici ency X-linked T-cell- negative/B -cell- positive/NK- cell- negative (XSCID) [MIM:300400]
24844 P31785 (IL2RG) L Q 293 rs137852510 Disease: X-linked combined immunodefici ency (XCID) [MIM:312863]
24845 P31930 (UQCRC1) D H 215 rs17080284 Benign
24846 P31930 (UQCRC1) N S 301 rs144710790 Benign
24847 P31939 (ATIC) T S 116 rs2372536 Benign
24848 P31939 (ATIC) K R 426 rs121434478 Disease: AICAR transformyla se/IMP cyclohydrola se deficiency (AICAR) [MIM:608688]
24849 P31941 (APOBEC3A) T A 19 rs17000556 Benign
24850 P31942 (HNRNPH3) N S 163 rs2273903 Benign
24851 P31942 (HNRNPH3) G A 284 rs16925347 Benign
24852 P31947 (SFN) M I 155 rs11542705 Benign
24853 P31994 (FCGR2B) Q P 83 rs5017567 Benign
24854 P31994 (FCGR2B) Y F 205 rs1050499 Benign
24855 P31994 (FCGR2B) I T 232 rs1050501 Benign
24856 P31994 (FCGR2B) Y D 258 rs148534844 Benign
24857 P31997 (CEACAM8) G V 17 rs28367882 Benign
24858 P31997 (CEACAM8) A V 45 rs35221575 Benign
24859 P31997 (CEACAM8) R K 114 rs1041997 Benign
24860 P31997 (CEACAM8) L V 322 rs1126458 Benign
24861 P31997 (CEACAM8) I M 340 rs8103051 Benign
24862 P32004 (L1CAM) W S 9 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24863 P32004 (L1CAM) H N 30 - Benign
24864 P32004 (L1CAM) I N 37 - Disease: -
24865 P32004 (L1CAM) T M 38 rs201151358 Benign
24866 P32004 (L1CAM) L V 120 rs796052697 Benign
24867 P32004 (L1CAM) G S 121 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24868 P32004 (L1CAM) M I 172 - Disease: -
24869 P32004 (L1CAM) I S 179 rs137852523 Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24870 P32004 (L1CAM) R G 184 - Disease: -
24871 P32004 (L1CAM) R Q 184 rs137852521 Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24872 P32004 (L1CAM) R W 184 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24873 P32004 (L1CAM) Y C 194 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24874 P32004 (L1CAM) D Y 202 - Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24875 P32004 (L1CAM) H Q 210 rs28933683 Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24876 P32004 (L1CAM) I T 219 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24877 P32004 (L1CAM) P L 240 rs137852526 Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24878 P32004 (L1CAM) A D 254 - Disease: -
24879 P32004 (L1CAM) C Y 264 rs137852518 Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24880 P32004 (L1CAM) G D 268 - Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24881 P32004 (L1CAM) W R 276 rs1131691900 Disease: -
24882 P32004 (L1CAM) E K 309 rs367665974 Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24883 P32004 (L1CAM) L P 313 - Disease: -
24884 P32004 (L1CAM) W C 335 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24885 P32004 (L1CAM) W R 335 - Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24886 P32004 (L1CAM) N K 369 - Disease: -
24887 P32004 (L1CAM) G R 370 rs137852524 Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24888 P32004 (L1CAM) R C 386 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24889 P32004 (L1CAM) N I 408 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24890 P32004 (L1CAM) A P 415 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24891 P32004 (L1CAM) V D 421 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24892 P32004 (L1CAM) A D 426 - Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24893 P32004 (L1CAM) G R 452 rs137852520 Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24894 P32004 (L1CAM) R C 473 rs886039408 Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24895 P32004 (L1CAM) G R 480 - Disease: -
24896 P32004 (L1CAM) L P 482 rs1064794246 Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24897 P32004 (L1CAM) C Y 497 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24898 P32004 (L1CAM) S P 542 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24899 P32004 (L1CAM) D N 598 rs137852519 Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24900 P32004 (L1CAM) T M 627 rs398123360 Benign
24901 P32004 (L1CAM) R P 632 - Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24902 P32004 (L1CAM) W C 635 - Disease: -
24903 P32004 (L1CAM) I P 645 - Disease: -
24904 P32004 (L1CAM) K E 655 rs1375788131 Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24905 P32004 (L1CAM) S C 674 - Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24906 P32004 (L1CAM) A D 691 - Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24907 P32004 (L1CAM) A T 691 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24908 P32004 (L1CAM) G R 698 rs886039409 Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24909 P32004 (L1CAM) P S 714 - Disease: -
24910 P32004 (L1CAM) R W 739 rs142424573 Benign
24911 P32004 (L1CAM) M T 741 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24912 P32004 (L1CAM) R P 751 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24913 P32004 (L1CAM) V M 752 rs137852525 Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24914 P32004 (L1CAM) W R 754 - Disease: -
24915 P32004 (L1CAM) V I 768 rs36021462 Benign
24916 P32004 (L1CAM) V F 768 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24917 P32004 (L1CAM) D N 770 rs148516831 Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24918 P32004 (L1CAM) Y C 784 rs797045674 Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24919 P32004 (L1CAM) L P 935 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24920 P32004 (L1CAM) P L 941 - Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24921 P32004 (L1CAM) L V 958 rs35902890 Benign
24922 P32004 (L1CAM) W L 1036 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24923 P32004 (L1CAM) Y C 1070 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24924 P32004 (L1CAM) L Q 1080 - Disease: -
24925 P32004 (L1CAM) S L 1194 rs137852522 Disease: Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]
24926 P32004 (L1CAM) S L 1224 - Disease: Hydrocephalu s due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]
24927 P32004 (L1CAM) G E 1239 - Benign
24928 P32019 (INPP5B) G S 46 rs56993041 Benign
24929 P32019 (INPP5B) M T 745 rs11488569 Benign
24930 P32119 (PRDX2) D E 153 rs34012472 Benign
24931 P32189 (GK) N K 79 rs17857267 Benign
24932 P32189 (GK) P T 131 rs17854203 Benign
24933 P32189 (GK) S N 185 - Benign
24934 P32189 (GK) N H 232 - Benign
24935 P32189 (GK) N D 294 rs132630331 Disease: Glycerol kinase deficiency (GKD) [MIM:307030]
24936 P32189 (GK) A T 382 - Benign
24937 P32189 (GK) D V 446 rs132630328 Disease: Glycerol kinase deficiency (GKD) [MIM:307030]
24938 P32189 (GK) W R 509 rs132630330 Disease: Glycerol kinase deficiency (GKD) [MIM:307030]
24939 P32239 (CCKBR) L F 37 rs1805000 Benign
24940 P32239 (CCKBR) V G 77 rs35816985 Benign
24941 P32239 (CCKBR) V I 125 rs1805002 Benign
24942 P32239 (CCKBR) R H 215 rs1805004 Benign
24943 P32239 (CCKBR) R Q 319 rs1805001 Benign
24944 P32241 (VIPR1) R M 341 rs17855906 Benign
24945 P32241 (VIPR1) R L 445 rs3733055 Benign
24946 P32243 (OTX2) E K 79 rs786205224 Disease: Retinal dystrophy, early-onset, with or without pituitary dysfunction (RDEOP) [MIM:610125]
24947 P32243 (OTX2) R G 89 rs104894464 Disease: Microphthalm ia, syndromic, 5 (MCOPS5) [MIM:610125]
24948 P32243 (OTX2) R S 90 - Disease: Microphthalm ia, syndromic, 5 (MCOPS5) [MIM:610125]
24949 P32243 (OTX2) P T 133 rs376333965 Disease: Microphthalm ia, syndromic, 5 (MCOPS5) [MIM:610125]
24950 P32243 (OTX2) P A 134 rs753783256 Disease: Microphthalm ia, syndromic, 5 (MCOPS5) [MIM:610125]
24951 P32243 (OTX2) N S 225 rs370761964 Disease: Pituitary hormone deficiency, combined, 6 (CPHD6) [MIM:613986]
24952 P32245 (MC4R) T A 11 rs372794914 Disease: Obesity (OBESITY) [MIM:601665]
24953 P32245 (MC4R) S F 30 rs13447323 Disease: Obesity (OBESITY) [MIM:601665]
24954 P32245 (MC4R) S Y 36 - Disease: Obesity (OBESITY) [MIM:601665]
24955 P32245 (MC4R) D V 37 rs13447325 Disease: Obesity (OBESITY) [MIM:601665]
24956 P32245 (MC4R) V M 50 rs121913557 Disease: Obesity (OBESITY) [MIM:601665]
24957 P32245 (MC4R) S C 58 rs121913558 Disease: Obesity (OBESITY) [MIM:601665]
24958 P32245 (MC4R) N S 62 rs121913566 Disease: Obesity (OBESITY) [MIM:601665]
24959 P32245 (MC4R) N K 72 - Disease: Obesity (OBESITY) [MIM:601665]
24960 P32245 (MC4R) P L 78 rs13447326 Disease: Obesity (OBESITY) [MIM:601665]
24961 P32245 (MC4R) N D 97 rs121913565 Disease: Obesity (OBESITY) [MIM:601665]
24962 P32245 (MC4R) I S 102 rs121913559 Disease: Obesity (OBESITY) [MIM:601665]
24963 P32245 (MC4R) I T 102 rs121913559 Disease: Obesity (OBESITY) [MIM:601665]
24964 P32245 (MC4R) V I 103 rs2229616 Benign
24965 P32245 (MC4R) L P 106 - Disease: Obesity (OBESITY) [MIM:601665]
24966 P32245 (MC4R) T M 112 rs13447329 Benign
24967 P32245 (MC4R) I K 125 - Disease: Obesity (OBESITY) [MIM:601665]
24968 P32245 (MC4R) S L 127 rs13447331 Disease: Obesity (OBESITY) [MIM:601665]
24969 P32245 (MC4R) R Q 165 rs13447332 Disease: Obesity (OBESITY) [MIM:601665]
24970 P32245 (MC4R) R W 165 rs13447332 Disease: Obesity (OBESITY) [MIM:601665]
24971 P32245 (MC4R) I V 170 rs121913560 Disease: Obesity (OBESITY) [MIM:601665]
24972 P32245 (MC4R) A T 175 rs121913563 Disease: Obesity (OBESITY) [MIM:601665]
24973 P32245 (MC4R) G D 181 rs13447333 Disease: Obesity (OBESITY) [MIM:601665]
24974 P32245 (MC4R) A V 219 rs121913567 Disease: Obesity (OBESITY) [MIM:601665]
24975 P32245 (MC4R) I T 226 rs193922686 Benign
24976 P32245 (MC4R) I L 251 rs52820871 Benign
24977 P32245 (MC4R) G S 252 rs13447336 Disease: Obesity (OBESITY) [MIM:601665]
24978 P32245 (MC4R) V I 253 rs187152753 Disease: Obesity (OBESITY) [MIM:601665]
24979 P32245 (MC4R) C R 271 rs1057517991 Disease: Obesity (OBESITY) [MIM:601665]
24980 P32245 (MC4R) C Y 271 rs121913562 Disease: Obesity (OBESITY) [MIM:601665]
24981 P32245 (MC4R) N S 274 rs121913561 Disease: Obesity (OBESITY) [MIM:601665]
24982 P32245 (MC4R) I S 316 rs121913564 Disease: Obesity (OBESITY) [MIM:601665]
24983 P32245 (MC4R) I T 317 rs13447337 Disease: Obesity (OBESITY) [MIM:601665]
24984 P32245 (MC4R) L F 325 - Disease: Obesity (OBESITY) [MIM:601665]
24985 P32247 (BRS3) T P 53 rs5232 Benign
24986 P32247 (BRS3) L Q 162 rs5234 Benign
24987 P32248 (CCR7) M V 7 rs2228015 Benign
24988 P32297 (CHRNA3) R H 37 rs8192475 Benign
24989 P32298 (GRK4) R L 65 rs2960306 Benign
24990 P32298 (GRK4) D H 95 rs13305979 Benign
24991 P32298 (GRK4) A T 116 rs34857805 Benign
24992 P32298 (GRK4) A V 142 rs1024323 Benign
24993 P32298 (GRK4) T R 183 rs45538934 Benign
24994 P32298 (GRK4) V I 247 rs1140085 Benign
24995 P32298 (GRK4) H Q 383 rs55852353 Benign
24996 P32298 (GRK4) L P 425 - Benign
24997 P32298 (GRK4) A V 440 rs747003103 Benign
24998 P32298 (GRK4) V I 473 rs35024854 Benign
24999 P32298 (GRK4) V A 486 rs1801058 Benign
25000 P32298 (GRK4) A T 495 rs35463176 Benign

Reference

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

    • [an error occurred while processing this directive]

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