SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS998610773 COL4A4 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Kidney disorder
RS998640015 DAGLA Health Risk Pathogenic Benign paroxysmal tonic upgaze of childhood with ataxia, Benign paroxysmal tonic upgaze of childhood with ataxia
RS998662110 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, Autosomal dominant syndrome including deafness
RS998675361 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS998700576 ZBTB20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS998703203 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia, Achromatopsia 3
RS998711723 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS998720218 KAT6A Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS998757704 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS998759536 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS998842815 HMBS Health Risk Pathogenic/Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS998860333 MAGEL2 Health Risk Conflicting classifications of pathogenicity Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS998865794 MESP2 Health Risk Pathogenic —
RS998928845 ACTL6B Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 76
RS998965783 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS998974599 ABCA4 Health Risk Likely pathogenic —
RS998985081 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS999025845 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS999049540 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS999121868 MTHFD1 Health Risk Likely pathogenic Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
RS999130123 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS999155902 EYS Health Risk Conflicting classifications of pathogenicity —
RS999171980 ERCC6 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, 7 conditions
RS999205481 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS999226548 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS999241357 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS999246452 CHST6 Health Risk Likely pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS999267729 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS999278063 RIPOR2 Health Risk Conflicting classifications of pathogenicity —
RS999278334 IFIH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Aicardi-Goutieres syndrome 7
RS999284780 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS999291073 CDK13 Health Risk Pathogenic —
RS999299058 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS999380946 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS999384296 MPDU1 Health Risk Likely pathogenic MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
RS999444545 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS999490184 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS999497211 PPOX Health Risk Likely pathogenic Cervical cancer, Cervical cancer
RS999523698 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS999545482 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS999557873 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS999634501 HIVEP2 Health Risk Conflicting classifications of pathogenicity —
RS999645687 SCN9A Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS999669276 CFB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS999671766 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS999699219 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS999701374 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS999731005 IFT172 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS999732757 LMX1B Health Risk Pathogenic —
RS999743155 ANAPC1 Health Risk Pathogenic/Likely pathogenic Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1
RS999764581 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS999773875 PIEZO2 Health Risk Conflicting classifications of pathogenicity —
RS999785767 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS999822357 NOTCH2 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, Hajdu-Cheney syndrome
RS999834788 AMN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Imerslund-Grasbeck syndrome type 2
RS999844958 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS999857292 PHYH Health Risk Likely pathogenic —
RS999863107 LRTOMT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS999921351 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS999923581 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS999930122 AICDA Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS999936193 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS999958582 NEXN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS999964757 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
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