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
RS1957151127 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1957151787 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1957160342 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957190327 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1957196622 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1957198348 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS1957201685 ABCC8 Health Risk Pathogenic —
RS1957266190 MYO7A Health Risk Likely pathogenic —
RS1957267246 MYO7A Health Risk Pathogenic —
RS1957274964 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1957309469 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1957309883 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1957358 SAMD4A Health Risk association Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS1957388064 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1957393464 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1957395448 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1957397703 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1957431273 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1957506216 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1957512345 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1957512851 MYO7A Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS1957514480 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1957517926 MYO7A Health Risk Pathogenic —
RS1957518268 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1957518966 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957519682 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957520269 MYO7A Health Risk Pathogenic —
RS1957520697 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1957520924 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1957578325 ZCCHC8 Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related
RS1957642707 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1957653605 MYO7A Health Risk Likely pathogenic —
RS1957653671 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1957654399 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957660093 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957660459 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957660801 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1957668488 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957813141 TMEM237 Health Risk Pathogenic Joubert syndrome 14, Joubert syndrome 14
RS1957839812 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1957842461 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1957844295 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS1957851234 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1957851371 MYO7A Health Risk Pathogenic —
RS1957877283 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957898187 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1957898729 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1957900892 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957901268 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957902751 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1957904411 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957904821 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1957924589 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957972028 MYO7A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1957972101 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1958431105 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1958433515 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1958487080 ATP7B Health Risk Likely pathogenic —
RS1958493213 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1958498953 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1958499462 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1958499640 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1958503241 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1958506321 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1958647126 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1958764803 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1958765122 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1958831021 MPDZ Health Risk Pathogenic —
RS1958896562 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Familial Mediterranean fever
RS1958986915 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS1959055512 GJB2 Health Risk Conflicting classifications of pathogenicity —
RS1959056736 GJB2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS1959057429 GJB2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS1959057808 GJB2 Health Risk Conflicting classifications of pathogenicity —
RS1959058329 GJB2 Health Risk Conflicting classifications of pathogenicity Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS1959060148 GJB2 Health Risk Likely pathogenic —
RS1959060696 GJB2 Health Risk Pathogenic Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 1A
RS1959062017 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS1959062825 GJB2 Health Risk Pathogenic/Likely pathogenic —
RS1959081392 MEFV Health Risk Pathogenic Acute febrile neutrophilic dermatosis, Acute febrile neutrophilic dermatosis
RS1959084389 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS1959088978 MPDZ Health Risk Likely pathogenic —
RS1959114278 MEFV Health Risk Pathogenic Familial Mediterranean fever, Familial Mediterranean fever
RS1959114665 MEFV Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial Mediterranean fever
RS1959115414 MEFV Health Risk Pathogenic Familial Mediterranean fever, Familial Mediterranean fever
RS1959115695 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS1959174597 MPDZ Health Risk Likely pathogenic —
RS1959180291 MPDZ Health Risk Pathogenic —
RS1959559533 MPDZ Health Risk Likely pathogenic —
RS1959664594 NAE1 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
RS1959760028 SCNN1G Health Risk Likely pathogenic —
RS1959910723 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1959981166 CNGB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1960053597 CACNA1B Health Risk Likely pathogenic —
RS1960065852 AARS1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1960103151 SCNN1G Health Risk Likely pathogenic SCNN1G-related disorder, SCNN1G-related disorder
RS1960316472 RCBTB1 Health Risk Likely pathogenic —
RS1960348987 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1960369184 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1960409206 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
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