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
RS121907967 HEXA Health Risk Likely pathogenic GM2-GANGLIOSIDOSIS, B1 VARIANT
RS121907969 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS121907971 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, B1 variant
RS121907972 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Inborn genetic diseases
RS121907973 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS121907974 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS121907975 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS121907976 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS121907977 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, variant AB
RS121907978 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS121907980 HEXA Health Risk Pathogenic Tay-Sachs disease, HEXA-related disorder
RS121907981 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS121907983 HEXB Health Risk Likely pathogenic Sandhoff disease, adult form
RS121907985 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, chronic
RS121907986 HEXB Health Risk Pathogenic Sandhoff disease, infantile form
RS121907987 PHGDH Health Risk Pathogenic/Likely pathogenic PHGDH deficiency, See cases
RS121907988 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, Neu-Laxova syndrome 1
RS121907990 ATP7B Health Risk Likely pathogenic Wilson disease, Inborn genetic diseases
RS121907992 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS121907993 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Inborn genetic diseases
RS121907994 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS121907996 ATP7B Health Risk Likely pathogenic Wilson disease, ATP7B-related disorder
RS121907997 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS121907998 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Inborn genetic diseases
RS121907999 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS121908000 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS121908001 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS121908002 IRAK4 Health Risk Pathogenic Immunodeficiency 67, IRAK4-related disorder
RS121908003 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder
RS121908004 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS121908006 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS121908007 SUOX Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS121908009 SUOX Health Risk Likely pathogenic Sulfite oxidase deficiency, Sulfocysteinuria
RS121908010 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS121908011 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS121908012 UROS Health Risk Pathogenic Cutaneous porphyria, UROS-related disorder
RS121908013 UROS Health Risk Pathogenic Cutaneous porphyria, Cutaneous porphyria
RS121908014 UROS Health Risk Conflicting classifications of pathogenicity Cutaneous porphyria, UROS-related disorder
RS121908015 UROS Health Risk Pathogenic Cutaneous porphyria, UROS-related disorder
RS121908016 UROS Health Risk Conflicting classifications of pathogenicity Cutaneous porphyria, Cutaneous porphyria
RS121908017 UROS Health Risk Pathogenic Cutaneous porphyria, Cutaneous porphyria
RS121908018 UROS Health Risk Pathogenic Cutaneous porphyria, Cutaneous porphyria
RS121908020 UROS Health Risk Pathogenic Cutaneous porphyria, Cutaneous porphyria
RS121908021 UROS Health Risk Pathogenic Cutaneous porphyria, Cutaneous porphyria
RS121908023 ALG9 Health Risk Likely pathogenic ALG9 congenital disorder of glycosylation, ALG9-related disorder
RS121908024 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS121908025 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS121908026 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS121908027 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS121908028 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS121908029 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS121908030 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS121908031 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS121908032 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS121908033 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS121908034 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS121908035 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS121908036 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS121908037 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS121908038 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS121908039 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS121908040 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS121908041 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS121908042 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS121908043 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS121908044 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS121908045 GALE Health Risk Likely pathogenic UDPglucose-4-epimerase deficiency, Thrombocytopenia 13
RS121908046 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, Thrombocytopenia 13
RS121908047 GALE Health Risk Pathogenic/Likely pathogenic Galactosemia III, severe
RS121908048 LCAT Health Risk Pathogenic LCAT deficiency, LCAT deficiency
RS121908049 LCAT Health Risk Pathogenic LCAT deficiency, LCAT deficiency
RS121908050 LCAT Health Risk Pathogenic Fish-eye disease, Norum disease
RS121908051 LCAT Health Risk Pathogenic Fish-eye disease, Norum disease
RS121908054 LCAT Health Risk Pathogenic LCAT deficiency, LCAT deficiency
RS121908055 LCAT Health Risk Pathogenic/Likely pathogenic LCAT deficiency, Norum disease
RS121908056 LCAT Health Risk Pathogenic Fish-eye disease, Fish-eye disease
RS121908057 LCAT Health Risk Pathogenic Fish-eye disease, Fish-eye disease
RS121908059 TMPRSS15 Health Risk Pathogenic Enterokinase deficiency, Enterokinase deficiency
RS121908060 TMPRSS15 Health Risk Pathogenic Enterokinase deficiency, Enterokinase deficiency
RS121908061 GP1BA Health Risk Pathogenic Bernard-Soulier syndrome, type A1
RS121908062 GP1BA Health Risk Pathogenic Pseudo von Willebrand disease, Pseudo von Willebrand disease
RS121908063 GP1BA Health Risk Likely pathogenic Bernard-Soulier syndrome, type A2
RS121908064 GP1BA Health Risk Pathogenic/Likely pathogenic Pseudo von Willebrand disease, Thrombocytopenia
RS121908065 GP1BA Health Risk Pathogenic Bernard-Soulier syndrome, type A1
RS121908067 NSD1 Health Risk Pathogenic Sotos syndrome, Squamous cell lung carcinoma
RS121908068 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS121908069 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS121908070 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS121908071 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS121908072 TMC1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 36, Rare genetic deafness
RS121908073 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Rare genetic deafness
RS121908074 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 7, Nonsyndromic genetic hearing loss
RS121908076 TMC1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 7, Hearing loss
RS121908077 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS121908078 SLC26A2 Health Risk Pathogenic De la Chapelle dysplasia, Diastrophic dysplasia
RS121908079 CLN6 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS121908080 CLN6 Health Risk Pathogenic/Likely pathogenic Ceroid lipofuscinosis, neuronal
RS121908081 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS121908082 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS121908083 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, Congenital hypothyroidism
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