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
RS2530853519 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530853550 GRIA2 Health Risk Pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS2530853615 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS2530855291 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS2530855793 FGG Health Risk Likely pathogenic Familial dysfibrinogenemia, Familial dysfibrinogenemia
RS2530855807 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2530855860 FGG Health Risk Likely pathogenic —
RS2530856101 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530856263 COL7A1 Health Risk Pathogenic —
RS2530856638 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530858076 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530858195 MCCC2 Health Risk Likely pathogenic MCCC2-related disorder, MCCC2-related disorder
RS2530858303 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530858327 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530858727 COL7A1 Health Risk Pathogenic —
RS2530858845 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530859021 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2530859335 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2530859748 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530859864 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530859869 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530860140 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530860274 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530860416 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS2530860472 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530860531 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530860606 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2530860773 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530861284 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530861501 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530861573 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530862015 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530862066 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS2530862727 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530862914 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530863027 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS2530863140 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530863469 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530863553 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530863898 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530863948 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530864617 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530864782 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530864819 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530865195 MSH6 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome
RS2530865884 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS2530865947 COL7A1 Health Risk Likely pathogenic —
RS2530866389 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS2530866886 COL7A1 Health Risk Pathogenic —
RS2530867222 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2530867393 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530867485 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530868807 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530869373 MSH6 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome
RS2530870276 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530870419 COL7A1 Health Risk Likely pathogenic —
RS2530870430 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530870567 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530870782 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530870827 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530871089 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2530871342 COL7A1 Health Risk Likely pathogenic —
RS2530871524 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530871576 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530872244 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530873416 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530873724 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530873835 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530873871 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530874847 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530875238 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530875347 COL7A1 Health Risk Pathogenic —
RS2530875400 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530875536 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS2530875649 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2530876152 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2530876391 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530876523 COL7A1 Health Risk Pathogenic —
RS2530876670 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530876916 COL7A1 Health Risk Pathogenic —
RS2530877069 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530877436 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530878062 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530878802 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530879122 COL7A1 Health Risk Pathogenic —
RS2530879272 COL7A1 Health Risk Likely pathogenic —
RS2530879298 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2530879532 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530879705 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530879747 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530879973 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2530889102 FAT4 Health Risk Pathogenic —
RS2530889823 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2530891038 ADGRV1 Health Risk Pathogenic —
RS2530891428 ADGRV1 Health Risk Pathogenic —
RS2530892102 FAT4 Health Risk Pathogenic —
RS2530892715 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2530892886 INTU Health Risk Pathogenic Orofaciodigital syndrome 17, Orofaciodigital syndrome 17
RS2530894922 COL7A1 Health Risk Pathogenic —
RS2530896427 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
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