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
RS2509245369 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2509245447 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509246568 MED13 Health Risk Likely pathogenic Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS2509246578 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509246751 COL1A1 Health Risk Likely pathogenic See cases, See cases
RS2509246788 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509246805 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS2509246983 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, 8 conditions
RS2509247867 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509248128 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509248182 COL1A1 Health Risk Likely pathogenic Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
RS2509248258 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509248353 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509248363 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509248369 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509248512 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509248765 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509248856 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509249045 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509249174 POLG Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome
RS2509249517 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509249796 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509250234 GH1 Health Risk Likely pathogenic Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency
RS2509250570 GH1 Health Risk Pathogenic Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency
RS2509251319 GH1 Health Risk Pathogenic/Likely pathogenic Idiopathic growth hormone deficiency, Idiopathic growth hormone deficiency
RS2509251587 TSPOAP1 Health Risk Pathogenic Dystonia 22, juvenile-onset
RS2509252741 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509252746 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509252822 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509253023 GH1 Health Risk Pathogenic Ateleiotic dwarfism, Ateleiotic dwarfism
RS2509253189 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509253445 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509253688 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS2509253729 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509253751 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509253797 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509253904 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509254137 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509255117 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509255211 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509255422 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509255963 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509255999 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509256107 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509256121 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509256132 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509256188 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509256201 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509256204 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509256349 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509256363 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS2509258018 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509258061 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509258234 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509258309 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509258453 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509258957 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509259051 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509259098 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509259187 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2509259283 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2509259293 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509259501 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509259817 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509260144 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509260328 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509260376 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509260425 POLG Health Risk Likely pathogenic —
RS2509260589 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2509260903 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2509261130 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2509261166 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509261498 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2509261635 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2509261900 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509262078 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS2509262137 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS2509262182 RAD51C Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2509262234 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509262236 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509262240 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509262340 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2509262385 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509262414 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509262475 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2509262617 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509264996 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, POLG-related disorder
RS2509265266 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509265601 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509265618 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509265966 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509266473 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509266618 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509266699 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509266853 COL1A1 Health Risk Likely pathogenic COL1A1-related disorder, COL1A1-related disorder
RS2509267906 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509273650 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509273792 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2509273847 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509274053 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
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