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
RS771442299 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary breast ovarian cancer syndrome
RS771442826 NECTIN4 Health Risk Likely pathogenic —
RS771444196 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS771444479 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS771444488 NDUFA10 Health Risk Likely pathogenic —
RS771446983 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS771447934 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS771449722 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771450542 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Differences in sex development
RS771450991 CRX Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 7
RS771452619 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS771453959 MYO15A Health Risk Pathogenic —
RS771454167 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 5, Bardet-Biedl syndrome 14
RS771454414 POP1 Health Risk Pathogenic/Likely pathogenic POP1-related disorder, POP1-related disorder
RS771454835 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS771455190 HGSNAT Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS771455309 KIAA0753 Health Risk Likely pathogenic —
RS771455657 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS771456188 MSH4 Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS771456293 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS771456483 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS771456729 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Melanoma
RS771457696 PCSK1 Health Risk Likely pathogenic Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS771458366 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS771458482 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS771458863 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS771459391 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS771459937 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS771460783 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS771460962 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS771461068 TMTC3 Health Risk Conflicting classifications of pathogenicity —
RS771462690 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS771463286 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS771463510 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS77146441 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS771465504 MANBA Health Risk Pathogenic/Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS771465893 GLRB Health Risk Likely pathogenic Hyperekplexia 2, Gastric cancer
RS771466122 FLAD1 Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Myopathy with abnormal lipid metabolism
RS771466710 SERPINB8 Health Risk Conflicting classifications of pathogenicity —
RS771466788 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS771467005 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
RS771467409 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS771467567 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS771467729 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS771468316 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS771468922 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS771472509 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS771472958 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastric cancer
RS771473156 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS771473384 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS771473483 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS771473725 IFT43 Health Risk Likely pathogenic —
RS771474371 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyperaldosteronism
RS771475755 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Inborn genetic diseases
RS771475772 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS771475965 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS771477094 LMBRD1 Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Cobalamin C disease
RS771477447 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, SLC2A2-related disorder
RS771477893 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, KIF1B-related disorder
RS771479314 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS771479616 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS771481304 TBCK Health Risk Pathogenic Hypotonia, infantile
RS771481623 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS771483221 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS771484121 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS771485728 MED23 Health Risk Pathogenic Intellectual disability, autosomal recessive 18
RS771486286 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS771486572 PUS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771486772 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS771487311 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS771488542 MAT2A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS771489173 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS771489305 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS771490182 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS771491533 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
RS771491701 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS771494475 BAP1 Health Risk Conflicting classifications of pathogenicity Ganglioglioma, Hereditary cancer-predisposing syndrome
RS771494754 AKT3 Health Risk Conflicting classifications of pathogenicity Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Inborn genetic diseases
RS771494956 ABCA7 Health Risk Conflicting classifications of pathogenicity —
RS771495234 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS771495707 ABCA4 Health Risk Pathogenic/Likely pathogenic —
RS771498368 PTCH2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS771498926 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS771499212 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS771501846 MAGEL2 Health Risk Conflicting classifications of pathogenicity —
RS771504780 USH1C Health Risk Pathogenic —
RS771504880 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS771507023 STAT5B Health Risk Conflicting classifications of pathogenicity Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS771507094 CLCN2 Health Risk Likely pathogenic Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II
RS771507895 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS771507948 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS771507979 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder
RS771508476 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771509538 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS771509836 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dystrophin deficiency
RS771510541 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS771511132 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS771511344 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771512430 OPA1 Health Risk Pathogenic —
RS771513054 COG1 Health Risk Likely pathogenic COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
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