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
RS1567797661 BRCA1 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567797748 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567797783 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1567797787 BRCA1 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567797954 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567798003 BRCA1 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567798189 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1567798263 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1567798335 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567798727 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567798735 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1567798739 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1567798771 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1567799078 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1567799193 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567799248 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567799458 KDM6B Health Risk Pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS1567799498 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567799639 TMC8 Health Risk risk factor Epidermodysplasia verruciformis, susceptibility to
RS1567799662 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567799667 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1567799668 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567799713 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1567799818 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1567799822 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1567799906 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1567799925 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567799943 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1567799952 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS1567800029 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567800087 BRCA1 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567800172 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1567800181 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567800197 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567800230 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1567800325 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567800523 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567800665 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1567800757 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567800850 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1567800920 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome 7, Joubert syndrome 7
RS1567801162 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567801307 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567801398 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1567801570 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1567801576 BRCA1 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567801705 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1567801728 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1567801816 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567802220 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567802284 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1567803095 GH1 Health Risk Likely pathogenic Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency
RS1567803107 MKS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 13, Meckel syndrome
RS1567803140 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567804153 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Gastric cancer
RS1567805965 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1567806027 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567806048 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS1567807238 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1567807517 FLCN Health Risk Pathogenic/Likely pathogenic Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS1567807684 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1567808098 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1567808196 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1567808990 DNAH9 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1567809140 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1567809782 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1567810051 CD79B Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 6, autosomal recessive
RS1567810400 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1567810482 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1567810999 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1567811070 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1567811244 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1567811487 CCDC40 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1567812175 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1567812484 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567812616 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1567812766 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567813223 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1567813248 FLCN Health Risk Likely pathogenic Pilocytic astrocytoma, Birt-Hogg-Dube syndrome
RS1567813893 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1567814432 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567814497 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567814586 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1567814632 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567815105 ADGRG1 Health Risk Pathogenic 7 conditions, Bilateral frontoparietal polymicrogyria
RS1567815771 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Inborn genetic diseases
RS1567816000 NF1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1567816070 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1567816131 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567816285 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1567816339 FLCN Health Risk Pathogenic/Likely pathogenic Hereditary renal cancer, Birt-Hogg-Dube syndrome
RS1567816461 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1567816549 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1567816724 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1567816751 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS1567816972 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1567816997 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1567817289 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1567817380 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1567817415 RAD51C Health Risk Likely pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
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