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
RS1555289508 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555289516 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555289518 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555289521 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555289522 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555289525 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555289529 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555289545 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555289559 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555289566 BRCA2 Health Risk Pathogenic/Likely pathogenic Malignant tumor of breast, Hereditary cancer-predisposing syndrome
RS1555289573 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555289575 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555289577 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555289589 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555289602 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555289604 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555289625 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555289771 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555289773 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555289774 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555289777 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555289787 BRCA2 Health Risk Likely pathogenic —
RS1555289789 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555289791 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555289805 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555289898 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555289922 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555289923 BRCA2 Health Risk Likely pathogenic —
RS1555289928 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555289942 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555289952 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555289953 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555289966 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555289984 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555289992 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555289997 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555290003 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555290016 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555290046 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555290049 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555290068 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555290386 EDNRB;EDNRB-AS1 Health Risk Likely pathogenic —
RS1555290401 EDNRB Health Risk Likely pathogenic —
RS1555290659 EDNRB Health Risk Likely pathogenic Waardenburg syndrome type 4A, Waardenburg syndrome type 4A
RS1555290800 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1555290810 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1555290925 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1555291147 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1555291195 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1555291207 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1555291285 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1555291784 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1555291801 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1555291809 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1555291848 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1555291870 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1555292026 KDM2B Health Risk Conflicting classifications of pathogenicity NEURODEVELOPMENTAL DISORDER WITH CONGENITAL CARDIAC DEFECTS AND VARIABLE RENAL AND OCULAR ABNORMALITIES, NEURODEVELOPMENTAL DISORDER WITH CONGENITAL CARDIAC DEFECTS AND VARIABLE RENAL AND OCULAR ABNORMALITIES
RS1555292048 EDNRB Health Risk Likely pathogenic —
RS1555292064 KDM2B Health Risk Pathogenic/Likely pathogenic KDM2B-related syndrome, KDM2B-related syndrome
RS1555293215 TCTN2 Health Risk Likely pathogenic Meckel syndrome, type 6
RS1555293357 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1555294098 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1555294199 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1555294398 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1555294600 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1555294626 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1555294634 RB1 Health Risk Pathogenic —
RS1555294636 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1555294652 CPAP Health Risk Pathogenic Microcephaly 6, primary
RS1555295017 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1555295354 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Retinoblastoma
RS1555296015 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1555296356 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1555296414 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1555296472 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1555296476 OTOGL Health Risk Likely pathogenic —
RS1555296939 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1555297827 CPAP Health Risk Likely pathogenic —
RS1555298451 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1555299107 CPAP Health Risk Pathogenic Microcephaly 6, primary
RS1555299783 CLDN10 Health Risk Pathogenic HELIX syndrome, HELIX syndrome
RS1555300086 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brain small vessel disease 1 with or without ocular anomalies
RS1555300846 POLE Health Risk Likely pathogenic Colorectal cancer, susceptibility to
RS1555301070 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial colorectal cancer type X
RS1555301083 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555301177 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555301223 POLE Health Risk Pathogenic —
RS1555301854 SOX5 Health Risk Pathogenic Inborn genetic diseases, Lamb-Shaffer syndrome
RS1555301901 FGF14 Health Risk Conflicting classifications of pathogenicity —
RS1555302200 RPGRIP1 Health Risk Likely pathogenic Retinal dystrophy, Horizontal nystagmus
RS1555302449 COL4A1 Health Risk Likely pathogenic —
RS1555302454 COL4A1 Health Risk Likely pathogenic Inborn genetic diseases, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS1555302645 COL4A1 Health Risk Pathogenic —
RS1555302710 RPGRIP1 Health Risk Pathogenic Retinitis pigmentosa, Leber congenital amaurosis 6
RS1555302735 COL4A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555302922 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS1555302942 COL4A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555303010 COL4A1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555303073 COL4A1 Health Risk Likely pathogenic Optic nerve hypoplasia, Brain small vessel disease 1 with or without ocular anomalies
RS1555303320 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
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