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
RS2497552012 MED17 Health Risk Pathogenic —
RS2497553300 OTOG Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS2497555720 MED17 Health Risk Pathogenic —
RS2497561240 VWF Health Risk Likely pathogenic —
RS2497566349 MYO7A Health Risk Pathogenic —
RS2497567084 KCNJ1 Health Risk Pathogenic —
RS2497567195 KCNJ1 Health Risk Pathogenic —
RS2497567253 KCNJ1 Health Risk Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS2497567978 KCNJ1 Health Risk Pathogenic —
RS2497568507 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS2497569607 MYO7A Health Risk Pathogenic —
RS2497572464 KCNJ1 Health Risk Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS2497572965 KCNJ1 Health Risk Pathogenic —
RS2497573022 KCNJ1 Health Risk Pathogenic —
RS2497573845 KCNJ1 Health Risk Likely pathogenic Bartter syndrome, Bartter syndrome
RS2497576036 ARMS2;HTRA1 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS2497576382 HTRA1 Health Risk Pathogenic —
RS2497581147 KCNJ1 Health Risk Pathogenic —
RS2497581517 GRIA4 Health Risk Likely pathogenic Neurodevelopmental disorder with or without seizures and gait abnormalities, Neurodevelopmental disorder with or without seizures and gait abnormalities
RS2497582852 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS2497582872 GRIN2B Health Risk Pathogenic —
RS2497583126 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS2497588983 ATM Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2497589650 MYO7A Health Risk Pathogenic —
RS2497590082 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497590335 GRIN2B Health Risk Pathogenic Developmental disorder, Developmental disorder
RS2497590357 GRIN2B Health Risk Likely pathogenic —
RS2497592905 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497592973 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497593396 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497593604 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497594252 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497594487 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497594698 MYO7A Health Risk Pathogenic —
RS2497595078 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2497595591 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497596650 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497596998 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2497597158 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497597301 OTOG Health Risk Pathogenic —
RS2497597808 GRIN2B Health Risk Pathogenic —
RS2497597834 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS2497597872 GRIN2B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 27
RS2497597907 GRIN2B Health Risk Pathogenic Developmental and epileptic encephalopathy, 27
RS2497597935 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS2497597954 GRIN2B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 27
RS2497598118 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS2497598211 GRIN2B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 27
RS2497599320 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS2497599516 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497599845 GRIN2B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2497600093 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS2497602512 GRIN2B Health Risk Pathogenic Developmental and epileptic encephalopathy, 27
RS2497602992 GRIN2B Health Risk Likely pathogenic See cases, See cases
RS2497608352 OTOG Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2497611119 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2497617328 SLC1A2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 41
RS2497622053 OTOG Health Risk Likely pathogenic —
RS2497622964 HTRA1 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2497629416 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2497630092 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497630969 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497631200 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497632152 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497633541 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497633813 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2497633967 GUCY2C Health Risk Likely pathogenic Congenital diarrhea 6, Congenital diarrhea 6
RS2497634067 ATM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2497634098 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497634855 MYO7A Health Risk Pathogenic —
RS2497634909 ATM Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2497635455 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497635596 PHF21A Health Risk Likely 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
RS2497637279 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2497637456 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497637840 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497637944 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497639782 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497650830 MYO7A Health Risk Likely pathogenic —
RS2497659448 FERRY3 Health Risk Pathogenic Intellectual disability, autosomal recessive 66
RS2497664685 MYO7A Health Risk Pathogenic Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS2497666400 MYO7A Health Risk Likely pathogenic —
RS2497668341 MPDZ Health Risk Likely pathogenic Hydrocephalus, nonsyndromic
RS2497675198 ARCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Short stature
RS2497677360 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497678007 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497678409 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2497678851 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497679363 ATM Health Risk Likely pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2497679773 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497680822 MYO7A Health Risk Likely pathogenic —
RS2497681025 CACNA2D4 Health Risk Pathogenic —
RS2497681381 MYO7A Health Risk Pathogenic —
RS2497681969 MYO7A Health Risk Likely pathogenic —
RS2497682237 ARCN1 Health Risk Pathogenic Short stature, rhizomelic
RS2497682696 MYO7A Health Risk Likely pathogenic —
RS2497682974 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS2497683918 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS2497684685 GRIN2B Health Risk Likely pathogenic Neurodevelopmental disorder, Intellectual disability
RS2497684798 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
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