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
RS28897681 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897683 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS28897685 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS28897686 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS28897687 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS28897688 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897689 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS28897690 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS28897691 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS28897696 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897698 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897702 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS28897705 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS28897706 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS28897711 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS28897712 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS28897713 BRCA2 Health Risk Conflicting classifications of pathogenicity Melanoma, Hereditary breast ovarian cancer syndrome
RS28897715 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS28897716 BRCA2 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Hereditary breast ovarian cancer syndrome
RS28897717 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897718 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897719 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS28897720 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS28897723 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897724 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS28897725 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS28897726 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897728 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS28897729 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS28897730 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS28897731 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS28897733 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897735 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897736 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897737 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897738 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897739 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897742 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897743 BRCA2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D1, Breast-ovarian cancer
RS28897746 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS28897749 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS28897750 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897751 BRCA2 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS28897753 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897754 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS28897756 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897757 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS28897758 BRCA2 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS28897759 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS28897760 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897761 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28900406 UGT1A1 Health Risk Conflicting classifications of pathogenicity Crigler-Najjar syndrome, Lucey-Driscoll syndrome
RS28903084 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS28903086 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS28903088 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS28903089 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS28903090 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS28903091 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS28903092 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS28903093 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS28903094 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS28903098 BRIP1 Health Risk Conflicting classifications of pathogenicity Breast cancer, early-onset
RS28904919 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS28904921 ATM Health Risk Pathogenic Ataxia - telangiectasia variant, T-cell prolymphocytic leukemia
RS28908168 RAD51B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS28909980 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS28909981 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS28909982 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS28909989 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS28910276 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS28910598 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS28910612 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS28912997 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS28913014 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS28915686 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS28926178 MC2R Health Risk Conflicting classifications of pathogenicity Glucocorticoid Deficiency, Glucocorticoid deficiency 1
RS28928868 FGFR3 Health Risk Pathogenic/Likely pathogenic Hypochondroplasia, Hypochondroplasia
RS28928870 FSHR Health Risk Pathogenic Ovarian hyperstimulation syndrome, Ovarian hyperstimulation syndrome
RS28928871 FSHR Health Risk Pathogenic Ovarian hyperstimulation syndrome, Ovarian hyperstimulation syndrome
RS28928872 GGCX Health Risk Pathogenic Vitamin K-dependent clotting factors, combined deficiency of
RS28928874 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS28928875 HBA1 Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN MAHIDOL, HEMOGLOBIN ASABARA
RS28928876 HBA1 Health Risk Pathogenic HEMOGLOBIN M (SENDAI), HEMOGLOBIN M (IWATE)
RS28928878 HBA1 Health Risk Pathogenic HEMOGLOBIN ADANA, Hemoglobin H disease
RS28928891 HOXD13 Health Risk Pathogenic Brachydactyly type D, Brachydactyly type E
RS28928892 HOXD13 Health Risk Conflicting classifications of pathogenicity Brachydactyly type D, Brachydactyly type E
RS28928893 KRT14 Health Risk Likely pathogenic Epidermolysis bullosa simplex 1A, generalized severe
RS28928894 KRT16 Health Risk Pathogenic Pachyonychia congenita 1, Palmoplantar keratoderma
RS28928895 KRT16 Health Risk Pathogenic Pachyonychia congenita 1, Pachyonychia congenita 1
RS28928896 KRT17 Health Risk Pathogenic Pachyonychia congenita 2, Steatocystoma multiplex
RS28928897 KRT17 Health Risk Pathogenic Steatocystoma multiplex, Pachyonychia congenita 2
RS28928898 KRT17 Health Risk Pathogenic Pachyonychia congenita 2, Pachyonychia congenita 2
RS28928899 KRT17 Health Risk Pathogenic Pachyonychia congenita 2, Pachyonychia congenita 2
RS28928900 LMNA Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type
RS28928902 LMNA Health Risk Conflicting classifications of pathogenicity Mandibuloacral dysplasia with type A lipodystrophy, atypical
RS28928903 LMNA Health Risk Pathogenic Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
RS28928904 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Congenital long QT syndrome
RS28928905 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, bradycardia-induced
RS28928906 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS28928907 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Thrombocytopenia
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