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
RS2488361727 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488361767 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488368219 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488368531 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488369262 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488369449 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488369617 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488369850 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488369879 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488380200 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488380221 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488421245 OTUD6B Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies, seizures
RS2488421311 OTUD6B Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies, seizures
RS2488425669 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2488462982 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Inborn genetic diseases
RS2488555660 SLURP1 Health Risk Pathogenic Acroerythrokeratoderma, Acroerythrokeratoderma
RS2488584261 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2488602319 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2488603690 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2488605060 VPS13B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2488614714 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2488637479 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488637752 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2488638913 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2488672432 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488672772 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2488674652 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488675314 CYP11B1 Health Risk Pathogenic —
RS2488675474 CYP11B1 Health Risk Pathogenic —
RS2488675647 CYP11B1 Health Risk Pathogenic —
RS2488675856 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488675946 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488676492 CYP11B1 Health Risk Likely pathogenic Congenital adrenal hyperplasia, Glucocorticoid-remediable aldosteronism
RS2488676544 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488676574 CYP11B1 Health Risk Pathogenic —
RS2488676743 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488677327 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488677344 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488677362 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488677448 CYP11B1 Health Risk Pathogenic —
RS2488677484 CYP11B1 Health Risk Pathogenic —
RS2488677579 CYP11B1 Health Risk Pathogenic —
RS2488677593 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488677617 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488677619 CYP11B1 Health Risk Likely pathogenic —
RS2488678032 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488678051 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488678074 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488678124 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488678145 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488678148 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488678202 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488680476 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488681006 CYP11B1 Health Risk Pathogenic —
RS2488681030 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488681073 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488681079 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488681185 CYP11B1 Health Risk Pathogenic —
RS2488681916 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2488682060 CYP11B1 Health Risk Pathogenic —
RS2488689997 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2488698196 CYP11B2 Health Risk Pathogenic —
RS2488698197 CYP11B2 Health Risk Likely pathogenic —
RS2488698313 CYP11B2 Health Risk Pathogenic —
RS2488698551 CYP11B2 Health Risk Pathogenic —
RS2488698556 CYP11B2 Health Risk Likely pathogenic CYP11B2-related disorder, CYP11B2-related disorder
RS2488699001 CYP11B2 Health Risk Pathogenic —
RS2488699111 CYP11B2 Health Risk Pathogenic/Likely pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS2488699139 CYP11B2 Health Risk Pathogenic —
RS2488699157 CYP11B2 Health Risk Pathogenic —
RS2488699866 CYP11B2 Health Risk Likely pathogenic —
RS2488699918 CYP11B2 Health Risk Pathogenic —
RS2488700018 CYP11B2 Health Risk Pathogenic —
RS2488700399 CYP11B2 Health Risk Pathogenic Corticosterone methyl oxidase type II deficiency, Corticosterone methyl oxidase type II deficiency
RS2488700501 CYP11B2 Health Risk Pathogenic —
RS2488700694 CYP11B2 Health Risk Likely pathogenic —
RS2488700696 CYP11B2 Health Risk Likely pathogenic —
RS2488700825 CYP11B2 Health Risk Pathogenic —
RS2488703183 CYP11B2 Health Risk Pathogenic —
RS2488703345 CYP11B2 Health Risk Pathogenic —
RS2488710351 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488710723 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488711350 VLDLR Health Risk Pathogenic —
RS2488711363 VLDLR Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS2488713769 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2488718242 VLDLR Health Risk Likely pathogenic —
RS2488718618 VLDLR Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS2488720898 VLDLR Health Risk Pathogenic —
RS2488721121 VLDLR Health Risk Likely pathogenic —
RS2488724032 VLDLR Health Risk Pathogenic —
RS2488724796 VLDLR Health Risk Likely pathogenic —
RS2488728643 VLDLR Health Risk Likely pathogenic —
RS2488728992 VLDLR Health Risk Pathogenic —
RS2488729039 VLDLR Health Risk Pathogenic —
RS2488734725 VLDLR Health Risk Pathogenic —
RS2488734766 VLDLR Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS2488736931 VLDLR Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS2488737991 VLDLR Health Risk Pathogenic —
RS2488742409 VLDLR Health Risk Pathogenic —
RS2488744867 VLDLR Health Risk Pathogenic —
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