SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1951910839 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1951913764 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1951917368 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1951918264 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1951919337 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1951922314 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1951927051 RNASEH2B Health Risk Likely pathogenic —
RS1951977983 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1951978776 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1951985366 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1951990899 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1951995448 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1952001328 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1952004098 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1952018459 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1952020122 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1952025232 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1952028475 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1952032120 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1952034577 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1952035259 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1952036108 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1952043099 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1952053203 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1952054473 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1952089249 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1952090786 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1952122839 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS1952238027 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1952385477 ATP8A2 Health Risk Pathogenic Dysequilibrium syndrome, Dysequilibrium syndrome
RS1952428470 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS1952434877 MYO7A Health Risk Pathogenic Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS1952455387 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1952455844 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1952456105 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1952457111 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1952464060 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1952477688 EHMT1 Health Risk Pathogenic —
RS1952480014 RB1 Health Risk Likely pathogenic Retinoblastoma, Hereditary retinoblastoma
RS1952481401 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1952491231 MYO7A Health Risk Pathogenic —
RS1952511865 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1952522892 MYO7A Health Risk Pathogenic —
RS1952532000 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1952576456 MYO7A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1952585733 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1952586315 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS1952619236 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS1952624973 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Retinoblastoma
RS1952647904 ZMYND11 Health Risk Pathogenic/Likely pathogenic —
RS1952654925 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS1952656398 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1952667695 SHANK2 Health Risk Likely pathogenic —
RS1952668177 ZMYM2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Inborn genetic diseases
RS1952680837 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1952682554 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1952694662 MYO7A Health Risk Pathogenic Usher syndrome type 1B, Usher syndrome type 1B
RS1952694787 MYO7A Health Risk Likely pathogenic —
RS1952694899 DNM1L Health Risk Likely pathogenic Encephalopathy, lethal
RS1952715820 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1952726441 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1952726482 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1952727001 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1952754017 SLC17A8 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25
RS1952778845 GNPTAB Health Risk Likely pathogenic Mucolipidosis, Mucolipidosis
RS1952797903 MYO7A Health Risk Pathogenic —
RS1952807311 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1952831606 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1952831740 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1952832685 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1952850476 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1952850511 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1952854443 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS1952918542 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1952921914 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1952924076 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1952971551 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1952986419 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1952987753 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1952988471 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1952988642 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1952989025 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1952989955 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1952994888 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Mucolipidosis type II
RS1952995034 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1952995212 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1952997134 DNM1L Health Risk Conflicting classifications of pathogenicity Encephalopathy, lethal
RS1952999818 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953000660 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953000723 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS1953052904 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953053396 GNPTAB Health Risk Pathogenic/Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS1953053436 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953057183 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953058015 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1953058345 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953059037 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953060183 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953060930 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953061755 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
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