SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS80359880 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80359881 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80359882 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80359883 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80359884 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80359885 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80359890 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS8041826 ARNT2 Health Risk association Pulmonary disease, chronic obstructive
RS8042919 TRPM7 Health Risk Conflicting classifications of pathogenicity Juvenile amyotrophic lateral sclerosis, TRPM7-related disorder
RS8046180 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS8052503 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS8055062 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS8055343 CNGB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS8069255 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS8080369 ITGB4 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 5A
RS808119 ANOS1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism
RS8081536 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS81002793 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS81002795 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS81002796 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002797 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS81002798 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS81002801 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS81002802 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS81002804 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS81002805 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS81002806 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002809 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS81002810 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, BRCA2-related cancer predisposition
RS81002812 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS81002813 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS81002816 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002819 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS81002820 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS81002821 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS81002823 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS81002824 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS81002827 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS81002831 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002835 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS81002836 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS81002837 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS81002838 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS81002840 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS81002843 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS81002844 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS81002846 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS81002848 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS81002849 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002852 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS81002853 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS81002858 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS81002860 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002862 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002863 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS81002868 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002873 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002874 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002877 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS81002882 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002883 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002885 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002886 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002888 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS81002889 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS81002890 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS81002893 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002894 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS81002895 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS81002897 BRCA2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D1, Hereditary breast ovarian cancer syndrome
RS81002899 BRCA2 Health Risk Pathogenic Fanconi anemia complementation group D1, Breast-ovarian cancer
RS81002904 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS8105725 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS8111243 LIM2 Health Risk Conflicting classifications of pathogenicity Cataract 19 multiple types, Cataract 19 multiple types
RS8133 MGST3 Health Risk association Pulmonary disease, chronic obstructive
RS8133955 FTCD Health Risk Pathogenic/Likely pathogenic Glutamate formiminotransferase deficiency, FTCD-related disorder
RS8175351 KCNJ11 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS8176154 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS8176219 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS8176336 HRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Noonan syndrome and Noonan-related syndrome
RS8176928 DNASE1 Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Gastric cancer
RS8177974 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, PKLR-related disorder
RS8177982 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS8177988 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase hyperactivity
RS8177994 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS8178989 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Inborn genetic diseases
RS8179178 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS8179206 GCKR Health Risk Conflicting classifications of pathogenicity FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5, GCKR-related disorder
RS8187734 SLC18A3 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 21, SLC18A3-related disorder
RS8187787 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS8187791 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Cholestasis
RS8187798 ABCB4 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS8187802 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS8187807 ABCB4 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS8187808 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS8190972 GSR Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glutathione reductase deficiency, Chronic lymphocytic leukemia/small lymphocytic lymphoma
RS8190976 GSR Health Risk Conflicting classifications of pathogenicity GSR-related disorder, Hemolytic anemia due to glutathione reductase deficiency
RS8191996 MBL2 Health Risk Conflicting classifications of pathogenicity Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
RS8192466 BDNF Health Risk Conflicting classifications of pathogenicity Congenital central hypoventilation, Obesity
RS8192556 NEUROD1 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 6, Monogenic diabetes
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