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
RS2524691724 DCX Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2524694574 COL11A1 Health Risk Likely pathogenic COL11A1-related disorder, COL11A1-related disorder
RS2524697578 MUTYH Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2524698132 DRAM2 Health Risk Pathogenic —
RS2524698413 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2524698721 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2524698808 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524699309 AGL Health Risk Pathogenic —
RS2524699538 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524699735 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524700617 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524700686 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524707695 DHDDS Health Risk Likely pathogenic Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities
RS2524708025 DHDDS Health Risk Pathogenic Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59
RS2524708485 DHDDS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2524720199 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524720459 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524721125 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524724346 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524724626 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524724887 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524726100 COL11A1 Health Risk Likely pathogenic —
RS2524730915 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524730925 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524731035 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524731141 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524731280 KCNN3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2524731355 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524731432 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524731921 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524732108 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524732400 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524732551 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524732601 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524732639 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524732783 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524733814 SCP2 Health Risk Likely pathogenic —
RS2524746325 DRAM2 Health Risk Pathogenic —
RS2524757114 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524757369 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524757411 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524757462 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524757648 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524760741 KCNA3 Health Risk Likely pathogenic KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
RS2524761160 KCNA3 Health Risk Likely pathogenic KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
RS2524761170 KCNA3 Health Risk Likely pathogenic KCNA3-associated disorder, KCNA3-associated developmental and epileptic encephalopathy
RS2524761189 KCNA3 Health Risk Likely pathogenic KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
RS2524761194 KCNA3 Health Risk Likely pathogenic KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
RS2524761198 KCNA3 Health Risk Likely pathogenic KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
RS2524761275 KCNA3 Health Risk Likely pathogenic KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
RS2524761374 KCNA3 Health Risk Likely pathogenic Neurodevelopmental disorder, KCNA3-associated developmental and epileptic encephalopathy
RS2524761478 KCNA3 Health Risk Likely pathogenic KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
RS2524761872 KCNA3 Health Risk Likely pathogenic KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
RS2524761885 KCNA3 Health Risk Likely pathogenic KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
RS2524774440 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2524777893 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2524782520 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2524790740 COL11A1 Health Risk Likely pathogenic —
RS2524792669 COL11A1 Health Risk Likely pathogenic COL11A1-related disorder, COL11A1-related disorder
RS2524793782 UBAP2L Health Risk Pathogenic Neurodevelopmental disorder with impaired language, behavioral abnormalities
RS2524802526 TOE1 Health Risk Likely pathogenic TOE1-related disorder, TOE1-related disorder
RS2524804604 PIK3CD Health Risk Likely pathogenic Immunodeficiency 14b, autosomal recessive
RS2524805817 PIK3CD Health Risk Likely pathogenic Immunodeficiency 14b, autosomal recessive
RS2524811532 PIK3CD Health Risk Likely pathogenic Immunodeficiency 14, Immunodeficiency 14
RS2524814230 GBA1 Health Risk Likely pathogenic —
RS2524815453 PIK3CD Health Risk Pathogenic Immunodeficiency 14, Immunodeficiency 14
RS2524820366 GBA1 Health Risk Pathogenic —
RS2524820658 GBA1 Health Risk Likely pathogenic —
RS2524821657 SLC35D1 Health Risk Pathogenic Schneckenbecken dysplasia, Schneckenbecken dysplasia
RS2524822421 SLC35D1 Health Risk Pathogenic Schneckenbecken dysplasia, Schneckenbecken dysplasia
RS2524831565 GBA1 Health Risk Likely pathogenic —
RS2524831647 GBA1 Health Risk Pathogenic —
RS2524834596 DCX Health Risk Pathogenic —
RS2524835526 DCX Health Risk Likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
RS2524836385 DCX Health Risk Likely pathogenic —
RS2524837524 ATP1A2 Health Risk Likely pathogenic Migraine, familial hemiplegic
RS2524839442 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type I, Gaucher disease type I
RS2524842577 PIK3CD Health Risk Pathogenic Immunodeficiency 14, Immunodeficiency 14
RS2524844480 GBA1 Health Risk Likely pathogenic Gaucher disease type I, Gaucher disease type I
RS2524844959 GBA1 Health Risk Likely pathogenic —
RS2524846674 CSDE1 Health Risk Likely pathogenic —
RS2524846772 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2524846900 GBA1 Health Risk Pathogenic —
RS2524847096 GBA1 Health Risk Likely pathogenic —
RS2524847177 CSDE1 Health Risk Pathogenic —
RS2524851054 GBA1 Health Risk Likely pathogenic —
RS2524851566 GBA1 Health Risk Likely pathogenic Gaucher disease, Gaucher disease
RS2524852698 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524853377 GBA1 Health Risk Likely pathogenic —
RS2524853993 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524854159 ATP1A2 Health Risk Likely pathogenic ATP1A2-related disorder, ATP1A2-related disorder
RS2524856473 ATP1A2 Health Risk Likely pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS2524857158 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS2524857474 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS2524858642 DCX Health Risk Likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
RS2524858685 DCX Health Risk Likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
RS2524859237 DCX Health Risk Likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
RS2524859328 ATP1A2 Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS2524859378 STIL Health Risk Likely pathogenic —
RS2524865450 ATP1A2 Health Risk Likely pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
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