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
RS587780683 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Carcinoma of colon
RS587780684 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS587780685 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS587780686 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS587780687 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS587780688 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS587780689 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS587780692 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS587780697 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS587780699 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS587780700 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS587780705 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS587780707 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS587780708 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS587780709 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS587780710 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS587780711 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS587780715 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS587780716 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS587780717 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS587780718 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS587780721 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS587780722 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS587780724 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS587780725 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587780730 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS587780731 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS587780732 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS587780736 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS587780739 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS587780740 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS587780741 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS587780742 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS587780744 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS587780745 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS587780746 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS587780747 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS587780748 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS587780749 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS587780751 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS587780752 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS587780757 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, PALLD-related disorder
RS587780760 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic cancer
RS587780765 EPCAM Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS587780773 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS587780783 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS587780784 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS587780787 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS587780788 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS587780789 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS587780792 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS587780793 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS587780794 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS587780798 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS587780802 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS587780805 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS587780809 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS587780812 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS587780813 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS587780814 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS587780815 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS587780816 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS587780817 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS587780820 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587780821 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587780822 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587780823 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587780824 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587780825 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS587780827 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS587780828 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS587780830 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS587780832 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS587780833 BRIP1 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS587780836 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS587780838 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS587780839 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS587780840 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS587780843 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS587780844 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS587780846 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS587780849 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS587780872 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS587780873 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS587780875 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS587780881 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS587780896 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS587780903 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS587780905 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS587780910 COX10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 3
RS587780911 COX10 Health Risk Conflicting classifications of pathogenicity —
RS587780914 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS587780917 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis 10
RS587780938 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS587780948 GABRG2 Health Risk Conflicting classifications of pathogenicity —
RS587780965 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
RS587780967 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS587780980 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS587780981 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS587780985 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
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