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
RS2530822570 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530822790 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530822869 FGA Health Risk Likely pathogenic FGA-related disorder, FGA-related disorder
RS2530822943 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530823306 ADGRV1 Health Risk Pathogenic —
RS2530823403 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530823524 FGA Health Risk Pathogenic/Likely pathogenic Familial visceral amyloidosis, Ostertag type
RS2530823638 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530823660 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530823685 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530823755 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2530823820 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colon cancer
RS2530823968 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530824022 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer
RS2530824319 MSH6 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Hereditary nonpolyposis colorectal neoplasms
RS2530824751 COL7A1 Health Risk Likely pathogenic —
RS2530824762 ADGRV1 Health Risk Pathogenic —
RS2530824833 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530825113 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530825515 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530825642 COL7A1 Health Risk Likely pathogenic —
RS2530825755 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2530825910 COL7A1 Health Risk Pathogenic —
RS2530825916 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530825999 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530826030 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530826169 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530829065 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530829433 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530829576 COL7A1 Health Risk Pathogenic —
RS2530829969 FGA Health Risk Pathogenic —
RS2530830192 FGA Health Risk Likely pathogenic FGA-related disorder, FGA-related disorder
RS2530837171 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530837437 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530837788 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS2530837993 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530838087 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2530838410 DMD Health Risk Pathogenic See cases, See cases
RS2530838642 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2530838757 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530839282 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530839305 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530839880 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530839937 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2530839954 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530840246 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS2530840268 MSH6 Health Risk Likely pathogenic —
RS2530840397 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530840643 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2530841014 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530841042 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530841352 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530841464 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530841792 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530842319 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2530842733 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530842766 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2530842827 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530843021 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530843052 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2530843392 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530843407 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530843515 COL7A1 Health Risk Likely pathogenic COL7A1-related disorder, COL7A1-related disorder
RS2530843597 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530843714 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2530843748 MSH6 Health Risk Likely pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2530843906 COL7A1 Health Risk Pathogenic —
RS2530843916 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530844081 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2530844234 COL7A1 Health Risk Likely pathogenic —
RS2530844368 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2530844412 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2530844890 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530845167 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530845543 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530845607 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530845854 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530845890 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530846113 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530846210 COL7A1 Health Risk Likely pathogenic —
RS2530846433 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530846508 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530846864 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530847255 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms
RS2530847916 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Papillary carcinoma of the corpus uteri
RS2530848370 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530848882 COL7A1 Health Risk Pathogenic —
RS2530848969 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530849127 COL7A1 Health Risk Pathogenic —
RS2530849276 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530849360 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2530849457 MCCC2 Health Risk Pathogenic Methylcrotonyl-CoA carboxylase deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS2530849990 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS2530851514 COL7A1 Health Risk Pathogenic —
RS2530852957 FGG Health Risk Likely pathogenic —
RS2530853195 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS2530853214 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530853365 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530853368 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530853505 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
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