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
RS2522919648 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522921855 UROD Health Risk Likely pathogenic Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS2522922098 UROD Health Risk Likely pathogenic Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS2522923201 UROD Health Risk Pathogenic UROD-related disorder, UROD-related disorder
RS2522923651 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522924351 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522924439 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522925157 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522925387 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, TAFAZZIN-related disorder
RS2522925422 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522927425 UROD Health Risk Pathogenic UROD-related disorder, UROD-related disorder
RS2522927850 SPEN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522936231 MECR Health Risk Pathogenic —
RS2522936339 SPEN Health Risk Likely pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2522937677 TAFAZZIN Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522941783 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522941824 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522941954 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522942574 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522942894 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522943706 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS2522952803 MFSD2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522961067 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522963905 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2522975919 INTS11 Health Risk Pathogenic Neurodevelopmental disorder with motor and language delay, ocular defects
RS2522976055 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2522976500 MSN Health Risk Likely pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS2522976660 MSN Health Risk Pathogenic —
RS2522978414 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522979442 KDM6A Health Risk Pathogenic —
RS2522979795 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522980498 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522982178 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2522982515 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522983092 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2522984875 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2522984951 TAFAZZIN Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2522985080 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522985246 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522985442 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522985522 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522985614 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522986801 TAFAZZIN Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2, TAFAZZIN-related disorder
RS2522987020 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522987117 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522990255 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522990298 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522990355 MTOR Health Risk Pathogenic —
RS2522990592 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522995793 MTOR Health Risk Likely pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS2522996339 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522996355 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2522999559 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2523004237 CAMTA1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2523004547 MSN Health Risk Pathogenic —
RS2523006102 MSN Health Risk Pathogenic —
RS2523006110 MSN Health Risk Pathogenic —
RS2523010293 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2523010703 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2523010718 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2523010895 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2523016265 ATP6AP1 Health Risk Pathogenic Immunodeficiency 47, Immunodeficiency 47
RS2523016325 ATP6AP1 Health Risk Likely pathogenic Immunodeficiency 47, Immunodeficiency 47
RS2523017845 ATP6AP1 Health Risk Likely pathogenic Immunodeficiency 47, Immunodeficiency 47
RS2523018241 MSN Health Risk Pathogenic —
RS2523021283 MSN Health Risk Pathogenic —
RS2523021639 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2523030418 GDI1 Health Risk Likely pathogenic Intellectual disability, X-linked 41
RS2523033056 GDI1 Health Risk Pathogenic Intellectual disability, X-linked 41
RS2523035483 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2A2
RS2523036866 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2A2
RS2523037228 MFN2 Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS2523037323 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2523037515 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2523040871 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2523041143 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2523041411 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2523042495 DMD Health Risk Likely pathogenic —
RS2523042827 FAM50A Health Risk Conflicting classifications of pathogenicity Armfield syndrome, Armfield syndrome
RS2523043513 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2523043841 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2523043957 FAM50A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2523045606 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2523048155 MACF1 Health Risk Likely pathogenic Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation
RS2523049776 ATP13A2 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS2523055286 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Kufor-Rakeb syndrome
RS2523057920 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2523061214 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2523064807 BSND Health Risk Pathogenic —
RS2523069166 RHCE Health Risk Pathogenic RH-NULL, AMORPH TYPE
RS2523071377 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2523072017 DRP2 Health Risk Conflicting classifications of pathogenicity DRP2-related disorder, DRP2-related disorder
RS2523072193 MFN2 Health Risk Likely pathogenic MFN2-related disorder, MFN2-related disorder
RS2523072296 SPEN Health Risk Likely pathogenic SPEN-related disorder, SPEN-related disorder
RS2523072429 SPEN Health Risk Likely pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2523072505 SPEN Health Risk Likely pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2523073518 SPEN Health Risk Likely pathogenic —
RS2523075382 SPEN Health Risk Likely pathogenic SPEN-related disorder, SPEN-related disorder
RS2523076978 ATP13A2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2523079307 BSND Health Risk Likely pathogenic —
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