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
RS2497687744 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497687936 ARCN1 Health Risk Pathogenic —
RS2497688297 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497688582 ARCN1 Health Risk Likely pathogenic Short stature, rhizomelic
RS2497689525 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497689964 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497690296 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497691427 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497692004 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497702654 ETV6 Health Risk Likely pathogenic Thrombocytopenia 5, Thrombocytopenia 5
RS2497705748 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS2497705812 ARCN1 Health Risk Pathogenic See cases, ARCN1-related disorder
RS2497705927 ARCN1 Health Risk Pathogenic Short stature, rhizomelic
RS2497706395 ARCN1 Health Risk Pathogenic —
RS2497712869 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2497713440 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497713595 ARCN1 Health Risk Pathogenic Short stature, rhizomelic
RS2497713677 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497713908 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2497714207 ARCN1 Health Risk Pathogenic —
RS2497717723 ARCN1 Health Risk Pathogenic Short stature, rhizomelic
RS2497722065 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497723005 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497723321 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2497730659 CTNND1 Health Risk Pathogenic Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2
RS2497736206 MYO7A Health Risk Pathogenic —
RS2497737602 MYO7A Health Risk Pathogenic —
RS2497737973 MYO7A Health Risk Pathogenic —
RS2497740455 ARCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2497745541 MPDZ Health Risk Pathogenic —
RS2497752507 MYO7A Health Risk Pathogenic —
RS2497752614 MYO7A Health Risk Pathogenic —
RS2497753999 MYO7A Health Risk Likely pathogenic —
RS2497758301 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497759265 MYO7A Health Risk Likely pathogenic —
RS2497759980 MYO7A Health Risk Pathogenic —
RS2497774921 SLC1A2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 41
RS2497777318 GRIN2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GRIN2B-related disorder
RS2497778295 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS2497784482 ALG9 Health Risk Likely pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS2497787699 TNFRSF1A Health Risk Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
RS2497797848 MYO7A Health Risk Likely pathogenic —
RS2497798555 MYO7A Health Risk Likely pathogenic MYO7A-related disorder, MYO7A-related disorder
RS2497799402 MYO7A Health Risk Pathogenic —
RS2497799781 MYO7A Health Risk Pathogenic —
RS2497799898 MYO7A Health Risk Pathogenic —
RS2497800432 KCNC1 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS2497800929 KCNC1 Health Risk Pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS2497800940 KCNC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Progressive myoclonic epilepsy type 7
RS2497812312 MYO7A Health Risk Pathogenic —
RS2497830626 SLC1A2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 41
RS2497831020 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2497859234 SLC1A2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 41
RS2497870394 CACNA1C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, language delay
RS2497871916 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2497874840 CRYAB Health Risk Pathogenic Developmental cataract, Developmental cataract
RS2497879030 SCNN1A Health Risk Likely pathogenic SCNN1A-related disorder, SCNN1A-related disorder
RS2497884970 CRYAB Health Risk Likely pathogenic CRYAB-related disorder, CRYAB-related disorder
RS2497885818 SCNN1A Health Risk Likely pathogenic Pseudohypoaldosteronism, type IB1
RS2497897075 PHF21A Health Risk Pathogenic Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
RS2497906029 STIM1 Health Risk Conflicting classifications of pathogenicity Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency
RS2497924887 ETV6 Health Risk Pathogenic —
RS2497925453 ETV6 Health Risk Likely pathogenic —
RS2497930442 SCNN1A Health Risk Pathogenic Pseudohypoaldosteronism, type IB1
RS2497981883 ETV6 Health Risk Likely pathogenic —
RS2497982663 ETV6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2497982830 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS2497983099 ETV6 Health Risk Pathogenic —
RS2497984939 GRIN2B Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2497991209 SLC6A13 Health Risk Likely pathogenic —
RS2497999874 SYNE1 Health Risk Pathogenic SYNE1-related disorder, SYNE1-related disorder
RS2498000107 PHF21A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2498024152 PHF21A Health Risk Pathogenic —
RS2498037109 WBP11 Health Risk Pathogenic Vertebral, cardiac
RS2498067242 WBP11 Health Risk Likely pathogenic Vertebral, cardiac
RS2498069574 NDUFA9 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 26
RS2498080633 ETV6 Health Risk Likely pathogenic ETV6-related disorder, ETV6-related disorder
RS2498083268 ETV6 Health Risk Likely pathogenic Thrombocytopenia 5, Thrombocytopenia 5
RS2498108640 CD27 Health Risk Pathogenic Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2
RS2498138493 CD27 Health Risk Pathogenic Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2
RS2498141484 CD27 Health Risk Pathogenic Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2
RS2498146325 SOX5 Health Risk Likely pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2498146440 IPO8 Health Risk Likely pathogenic —
RS2498148129 SOX5 Health Risk Pathogenic —
RS2498155401 NECAP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 21
RS2498157107 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2498172659 NECAP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 21
RS2498186627 ETV6 Health Risk Likely pathogenic —
RS2498187092 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2498210885 ETV6 Health Risk Likely pathogenic Thrombocytopenia 5, Thrombocytopenia 5
RS2498247383 KDM5A Health Risk Pathogenic El Hayek-Chahrour neurodevelopmental disorder, El Hayek-Chahrour neurodevelopmental disorder
RS2498275012 STIM1 Health Risk Likely pathogenic Stormorken syndrome, Stormorken syndrome
RS2498285184 KDM5A Health Risk Pathogenic El Hayek-Chahrour neurodevelopmental disorder, El Hayek-Chahrour neurodevelopmental disorder
RS2498311124 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498312007 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498313549 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498315257 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498315567 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2498317032 CREBL2 Health Risk Likely pathogenic —
RS2498331546 KMT2D Health Risk Likely pathogenic —
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