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
RS2084681207 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2084683129 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2084696977 SLC12A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34
RS2084744538 NBEA Health Risk Likely pathogenic —
RS2084756915 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS2084757073 RHO Health Risk Pathogenic —
RS2084757329 RHO Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2084757596 RHO Health Risk Pathogenic —
RS2084757679 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS2084758666 RHO Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 4, See cases
RS2084758866 RHO Health Risk Pathogenic —
RS2084759300 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS2084774156 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2084774644 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Congenital stationary night blindness autosomal dominant 1
RS2084775383 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2084776162 RHO Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 4
RS2084776365 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS2084779727 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2084782760 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2084784131 ABHD5 Health Risk Pathogenic Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS2084785435 RHO Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 4
RS2084785483 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS2084785574 RHO Health Risk Pathogenic —
RS2084785588 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS2084785760 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS2084785890 RHO Health Risk Pathogenic —
RS2084786704 RHO Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2084786958 RHO Health Risk Conflicting classifications of pathogenicity —
RS2084787275 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2084789258 RHO Health Risk Conflicting classifications of pathogenicity —
RS2084789550 RHO Health Risk Pathogenic —
RS2084789677 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2084791045 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS2084793009 RHO Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 4
RS2084793386 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS2084799747 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2084799953 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2084800170 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2084800561 RHO Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2084800683 RHO Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS2084800900 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS2084801170 PCNT Health Risk Pathogenic —
RS2084801237 RHO Health Risk Pathogenic —
RS2084801470 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 4
RS2084801618 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS2084801700 RHO Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2084804331 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2084805279 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2084814748 ALDH3A2 Health Risk Pathogenic —
RS2084819840 ALDH3A2 Health Risk Pathogenic/Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2084869461 CUL2 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS2084898135 GART Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS2084954667 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2084960336 ALDH3A2 Health Risk Pathogenic —
RS2084961841 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Autism spectrum disorder
RS2084962182 ALDH3A2 Health Risk Pathogenic —
RS2084963365 SPG11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2084965242 SPG11 Health Risk Pathogenic —
RS2084966849 ANK3 Health Risk Pathogenic/Likely pathogenic Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS2084996201 ALDH3A2 Health Risk Pathogenic —
RS2085000001 REEP6 Health Risk Likely pathogenic —
RS2085005383 REEP6 Health Risk Pathogenic Retinitis pigmentosa 77, Retinitis pigmentosa 77
RS2085009218 REEP6 Health Risk Likely pathogenic —
RS2085044676 SNRPB Health Risk Likely pathogenic Isolated Pierre-Robin syndrome, Intellectual disability
RS2085074288 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2085078278 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Malignant tumor of breast
RS2085078922 IGBP1 Health Risk Conflicting classifications of pathogenicity —
RS2085081161 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2085083193 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2085086552 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2085111611 SLC38A8 Health Risk Pathogenic —
RS2085112203 SLC38A8 Health Risk Likely pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS2085164025 PLXND1 Health Risk Pathogenic Congenital heart defects, multiple types
RS2085171684 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2085183291 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2085184370 PALS1 Health Risk Pathogenic Anxiety, Abnormal facial shape
RS2085199149 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2085200653 ATM Health Risk Pathogenic/Likely pathogenic Malignant tumor of breast, Familial cancer of breast
RS2085204408 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2085211910 SLC38A8 Health Risk Pathogenic —
RS2085261656 MLH1 Health Risk Likely pathogenic Lynch syndrome, Familial colorectal cancer
RS2085268536 SLC38A8 Health Risk Pathogenic/Likely pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS2085270404 PLXND1 Health Risk Pathogenic Congenital heart defects, multiple types
RS2085270994 PLXND1 Health Risk Likely pathogenic —
RS2085290856 NBEA Health Risk Pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2085299661 TNNT1 Health Risk Pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS2085310643 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2085311497 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2085322101 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 1
RS2085370771 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2085373985 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2085375504 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2085385176 TNNT1 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS2085404878 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2085411304 MLH1 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS2085415475 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2085415927 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2085418293 NBEA Health Risk Pathogenic typical paroxysmal kinesigenic dyskinesia, typical paroxysmal kinesigenic dyskinesia
RS2085422358 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2085425585 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
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