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
RS2133312509 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2133312597 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2133312718 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2133312827 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2133312873 RAG2 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2133313100 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2133313409 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, B cell-negative
RS2133313582 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2133313716 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2133313784 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2133314424 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2133314621 RAG2 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2133314949 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS2133315445 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2133315462 RAG2 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2133316487 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2133321113 LMBR1;ZRS Health Risk Likely pathogenic Tibia, hypoplasia or aplasia of
RS2133322852 LAMC3 Health Risk Likely pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS2133325170 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS2133325416 NOTCH1 Health Risk Likely pathogenic Aortic valve disease 1, Aortic valve disease 1
RS2133327116 LAMC3 Health Risk Pathogenic —
RS2133328514 NOTCH1 Health Risk Likely pathogenic —
RS2133333494 NOTCH1 Health Risk Pathogenic NOTCH1-related disorder, NOTCH1-related disorder
RS2133335629 LAMC3 Health Risk Pathogenic —
RS2133336162 PCDH15 Health Risk Likely pathogenic —
RS2133337500 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome, Adams-Oliver syndrome
RS2133337914 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2133338569 NOTCH1 Health Risk Likely pathogenic —
RS2133339381 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2133339552 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2133342065 ODAD2 Health Risk Likely pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS2133343317 NOTCH1 Health Risk Likely pathogenic NOTCH1-related disorder, NOTCH1-related disorder
RS2133344193 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, NOTCH1-related disorder
RS2133344366 LAMC3 Health Risk Pathogenic —
RS2133345379 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2133346299 NOTCH1 Health Risk Pathogenic Keratoacanthoma, Keratoacanthoma
RS2133350738 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2133352835 NOTCH1 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Aortic valve disease 1
RS2133358321 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2133360646 NOTCH1 Health Risk Pathogenic KA-like vemurafenib-induced squamous lesions, KA-like vemurafenib-induced squamous lesions
RS2133361331 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2133363840 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2133364454 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2133365083 DEAF1 Health Risk Pathogenic —
RS2133369937 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2133369963 NOTCH1 Health Risk Likely pathogenic —
RS2133370541 NOTCH1 Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS2133372831 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2133373175 RINT1 Health Risk Pathogenic —
RS2133373241 RINT1 Health Risk Pathogenic —
RS2133377407 DEAF1 Health Risk Likely pathogenic —
RS2133377568 NOTCH1 Health Risk Likely pathogenic —
RS2133377982 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2133379125 KCNJ11 Health Risk Likely pathogenic —
RS2133379609 KCNJ11 Health Risk Likely pathogenic Neonatal diabetes mellitus, Neonatal diabetes mellitus
RS2133379669 IKZF5 Health Risk Pathogenic Thrombocytopenia 7, Thrombocytopenia 7
RS2133379859 IKZF5 Health Risk Pathogenic Thrombocytopenia 7, Thrombocytopenia 7
RS2133379889 IKZF5 Health Risk Pathogenic/Likely pathogenic Thrombocytopenia 7, Thrombocytopenia 7
RS2133380076 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Permanent neonatal diabetes mellitus
RS2133380463 KCNJ11 Health Risk Pathogenic —
RS2133382439 MPDZ Health Risk Likely pathogenic —
RS2133384267 DEAF1 Health Risk Pathogenic Intellectual disability, autosomal dominant 24
RS2133384423 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2133384781 IKZF5 Health Risk Pathogenic/Likely pathogenic Thrombocytopenia 7, Thrombocytopenia 7
RS2133385585 MPDZ Health Risk Pathogenic —
RS2133390317 ABCC8 Health Risk Likely pathogenic Neonatal diabetes mellitus, Neonatal diabetes mellitus
RS2133392952 ABCC8 Health Risk Pathogenic —
RS2133393098 ABCC8 Health Risk Pathogenic —
RS2133393241 ABCC8 Health Risk Likely pathogenic Familial hyperinsulinism, Familial hyperinsulinism
RS2133394533 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133394678 ABCC8 Health Risk Pathogenic —
RS2133394768 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS2133394860 ABCC8 Health Risk Likely pathogenic —
RS2133394958 DEAF1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2133395050 DEAF1 Health Risk Pathogenic —
RS2133395056 BMPR1A Health Risk Pathogenic Polyposis syndrome, hereditary mixed
RS2133395081 DEAF1 Health Risk Pathogenic Intellectual disability-epilepsy-extrapyramidal syndrome, Intellectual disability-epilepsy-extrapyramidal syndrome
RS2133395477 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133398414 ABCC8 Health Risk Pathogenic —
RS2133398429 ABCC8 Health Risk Pathogenic —
RS2133400786 ABCC8 Health Risk Pathogenic/Likely pathogenic Familial hyperinsulinism, Type 2 diabetes mellitus
RS2133400946 RINT1 Health Risk Likely pathogenic —
RS2133401009 ABCC8 Health Risk Likely pathogenic Neonatal diabetes mellitus, Neonatal diabetes mellitus
RS2133401493 ABCC8 Health Risk Pathogenic —
RS2133402124 DEAF1 Health Risk Pathogenic —
RS2133402346 DEAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 24
RS2133402368 DEAF1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 24
RS2133402479 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2133402508 DEAF1 Health Risk Pathogenic Intellectual disability, autosomal dominant 24
RS2133402518 DEAF1 Health Risk Likely pathogenic —
RS2133402700 DEAF1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 24
RS2133402741 DEAF1 Health Risk Pathogenic Intellectual disability, autosomal dominant 24
RS2133406667 DEAF1 Health Risk Pathogenic —
RS2133407387 ABCC8 Health Risk Pathogenic —
RS2133408466 ABCC8 Health Risk Pathogenic —
RS2133408572 ABCC8 Health Risk Pathogenic —
RS2133408684 NOTCH1 Health Risk Likely pathogenic —
RS2133408741 BMPR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2133409163 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2133411275 LIPA Health Risk Pathogenic/Likely pathogenic Lysosomal acid lipase deficiency, Wolman disease
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