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
RS1555574319 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574342 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555574355 BRCA1 Health Risk Conflicting classifications of pathogenicity —
RS1555574384 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555574389 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555574400 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555574410 COL1A1 Health Risk Pathogenic —
RS1555574411 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555574414 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555574417 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1555574436 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555574450 COL1A1 Health Risk Pathogenic —
RS1555574493 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574496 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574497 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574516 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574517 GFAP Health Risk Conflicting classifications of pathogenicity —
RS1555574553 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574638 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574641 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574698 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555574705 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555574710 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1555574711 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555574712 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS1555574722 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555574739 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1555574748 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555574756 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555574772 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS1555574788 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555574796 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555574802 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574803 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1555574871 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574888 KANSL1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555574913 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555574977 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555575015 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555575073 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1555575080 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555575085 COL1A1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555575086 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555575109 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555575131 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1555575142 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555575182 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555575197 KANSL1 Health Risk Pathogenic —
RS1555575227 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555575231 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS1555575253 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555575305 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1555575370 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555575405 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1555575425 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555575456 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555575489 KANSL1 Health Risk Pathogenic —
RS1555575663 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1555575677 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555575700 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1555575732 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555575816 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1555575835 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555575857 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555575860 COG4 Health Risk Pathogenic COG4-congenital disorder of glycosylation, Microcephalic osteodysplastic dysplasia
RS1555575889 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555575927 ELAC2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS1555576642 ELAC2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS1555576840 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555576855 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1555576858 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1555576868 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555576871 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555576878 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555576907 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555576921 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555576941 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555576959 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555576964 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555576968 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555576982 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555576990 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555577121 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1555577265 UBTF Health Risk Likely pathogenic —
RS1555577337 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS1555577413 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1555577433 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1555577565 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1555577613 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS1555577625 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1555577797 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1555578122 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS1555578360 BRCA1 Health Risk Pathogenic Ovarian cancer, Ovarian cancer
RS1555578376 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555578398 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555578402 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555578407 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555578459 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS1555578539 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555578542 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
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