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
RS1555594803 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555594841 BRCA1 Health Risk Pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS1555594861 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1555594864 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1555594912 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555594935 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555594954 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555594986 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555596072 SLC4A1 Health Risk Pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS1555596165 SLC4A1 Health Risk Likely pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS1555596273 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555596294 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555596315 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555596373 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555596382 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555596392 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555596483 SLC4A1 Health Risk Pathogenic —
RS1555596484 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555596638 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1555596663 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555596757 SLC4A1 Health Risk Pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS1555596758 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 1
RS1555596845 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Meckel syndrome
RS1555596943 MKS1 Health Risk Likely pathogenic Joubert syndrome 28, Meckel syndrome
RS1555597094 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS1555597132 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555597152 BRCA1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555597189 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1555597195 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555597214 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555597215 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555597217 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555597235 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555597239 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555597252 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555597309 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555598460 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555598544 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555598609 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555598687 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555598796 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555598800 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555598802 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS1555598824 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555598869 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555598880 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555598888 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555599090 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555599127 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555599151 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1555599171 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS1555599205 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555599208 BRCA1 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer
RS1555599211 DGKE Health Risk Pathogenic Hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1555599226 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS1555599256 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1555599274 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555599278 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1555599281 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555599288 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555599292 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555599296 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555599412 MKS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 13, Meckel syndrome
RS1555599537 CACNA1C Health Risk Pathogenic —
RS1555599571 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555599586 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS1555599594 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555599600 GAA Health Risk Likely pathogenic —
RS1555599619 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555599637 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555599644 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555599667 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555599713 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555599960 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555600050 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555600061 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555600070 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1555600102 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555600111 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555600166 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555600179 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555600212 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS1555600214 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1555600235 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555600575 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555600605 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, 7 conditions
RS1555600644 MKS1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1555600730 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555600755 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555600846 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555600852 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555600865 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555600872 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555600873 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555600876 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555600893 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555600897 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555600909 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555600921 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1555601002 BRIP1 Health Risk Pathogenic Gastric cancer, Gastric cancer
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