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
RS2082900460 SPTB Health Risk Likely pathogenic —
RS2082910890 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2082914528 TLK2 Health Risk Likely pathogenic —
RS2082914686 TLK2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 57
RS2082915385 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082923260 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2082929857 SPTB Health Risk Conflicting classifications of pathogenicity —
RS2082934908 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2082940446 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2082945195 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS2082968071 MLH1 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS2082970808 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2082973177 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2082976497 LAMA3 Health Risk Pathogenic —
RS2082978607 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS2082985381 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2082990862 MLH1 Health Risk Pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS2082994980 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2082999197 HYDIN Health Risk Pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2083028943 FCHO1 Health Risk Pathogenic Immunodeficiency 76, Immunodeficiency 76
RS2083030924 SPG11 Health Risk Pathogenic —
RS2083036101 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2083036870 LOC130056973;SPG11 Health Risk Pathogenic —
RS2083039160 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2083042256 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2083042425 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2083042603 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 28
RS2083046669 LAMA3 Health Risk Pathogenic —
RS2083048367 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2083056830 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, DEPDC5-related disorder
RS2083058016 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2083116648 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2083140726 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2083146343 SLC9A1 Health Risk Conflicting classifications of pathogenicity Lichtenstein-Knorr syndrome, Lichtenstein-Knorr syndrome
RS2083161364 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2083161760 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2083174891 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2083175858 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2083178407 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2083180883 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2083214834 SLC9A1 Health Risk Pathogenic Lichtenstein-Knorr syndrome, Lichtenstein-Knorr syndrome
RS2083230922 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2083233502 SHANK3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2083233723 SHANK3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2083254756 NDUFB10 Health Risk Pathogenic Mitochondrial complex 1 deficiency, nuclear type 35
RS2083259164 FZR1 Health Risk Conflicting classifications of pathogenicity Seizure, Global developmental delay
RS2083271355 SHANK3 Health Risk Pathogenic —
RS2083275468 SHANK3 Health Risk Pathogenic —
RS2083275928 SHANK3 Health Risk Pathogenic Intellectual disability, Autism spectrum disorder
RS2083278122 SHANK3 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2083278313 SHANK3 Health Risk Pathogenic —
RS2083278717 SHANK3 Health Risk Pathogenic —
RS2083279575 SHANK3 Health Risk Pathogenic —
RS2083280147 SHANK3 Health Risk Likely pathogenic Schizophrenia 15, Phelan-McDermid syndrome
RS2083280269 SHANK3 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2083281950 SHANK3 Health Risk Pathogenic —
RS2083283892 SHANK3 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2083287837 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2083287955 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2083292400 SHANK3 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2083293616 SHANK3 Health Risk Pathogenic Intellectual disability, Phelan-McDermid syndrome
RS2083297043 SHANK3 Health Risk Likely pathogenic —
RS2083299114 SHANK3 Health Risk Pathogenic —
RS2083311058 SPG11 Health Risk Pathogenic SPG11-related spastic paraplegia, SPG11-related spastic paraplegia
RS2083315314 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2083325659 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2083326327 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2083331705 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2083336878 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2083337165 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2083338520 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2083358123 SHANK3 Health Risk Pathogenic —
RS2083359401 SYNE1 Health Risk Likely pathogenic —
RS2083360139 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2083361357 SHANK3 Health Risk Pathogenic/Likely pathogenic SHANK3-related disorder, SHANK3-related disorder
RS2083361660 SHANK3 Health Risk Likely pathogenic —
RS2083362624 SHANK3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2083377690 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2083381117 IFNAR1 Health Risk Pathogenic —
RS2083394185 GPR143 Health Risk Likely pathogenic Ocular albinism, type I
RS2083402714 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2083403132 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2083404326 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2083405700 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2083411159 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2083412120 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2083414866 GPR143 Health Risk Pathogenic —
RS2083416349 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2083425688 MLH1 Health Risk Pathogenic Lynch-like syndrome, Colorectal cancer
RS2083435502 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2083438278 GPR143 Health Risk Pathogenic Ocular albinism, type I
RS2083438857 TTN Health Risk Likely pathogenic Hypertrophic cardiomyopathy 9, Hypertrophic cardiomyopathy 9
RS2083440966 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, ATM-related cancer predisposition
RS2083441908 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2083443709 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2083444037 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2083444895 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2083448445 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2083453557 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2083454135 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
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