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
RS771065673 AKT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Type 2 diabetes mellitus
RS771066341 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS771066494 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS771066826 CDK10 Health Risk Pathogenic Al Kaissi syndrome, Al Kaissi syndrome
RS77106788 MYO9A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771067891 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS771068208 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS771068336 MYO18B Health Risk Pathogenic —
RS771069887 AGL Health Risk Pathogenic Glycogen storage disease IIIa, Glycogen storage disease type III
RS771069984 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS771071033 KAT6A Health Risk Conflicting classifications of pathogenicity KAT6A-related disorder, KAT6A-related disorder
RS771071992 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS771072859 USH2A Health Risk Pathogenic —
RS771073292 CIITA Health Risk Pathogenic MHC class II deficiency 1, MHC class II deficiency 1
RS771074100 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1A
RS771075973 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS771076131 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS771076819 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS771076928 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Glaucoma 3A
RS771077929 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS771078069 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
RS771078208 FOXE3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Congenital primary aphakia
RS771078518 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS771078736 FGFR1 Health Risk Conflicting classifications of pathogenicity Osteoglophonic dysplasia, Trigonocephaly 1
RS771078849 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS771079174 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS771079550 PDZD7 Health Risk Pathogenic —
RS771079655 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS771079712 TMC8 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS771080306 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS771081514 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS771081547 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771082552 HOXD13 Health Risk Likely pathogenic Brachydactyly-syndactyly syndrome, Brachydactyly-syndactyly syndrome
RS771082674 LRP5 Health Risk Pathogenic —
RS771082902 AARS2 Health Risk Likely pathogenic —
RS771084342 SUFU Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS771084683 SMAD4 Health Risk Pathogenic Abnormal bleeding, Thrombocytopenia
RS771085105 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS771085157 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Alternating hemiplegia of childhood 1
RS771085529 ZNF142 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS771085531 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS771085839 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS771085881 IFT81 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771087264 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS771087307 ACTRT1 Health Risk Conflicting classifications of pathogenicity Male infertility with azoospermia or oligozoospermia due to single gene mutation, ACTRT1-related disorder
RS771089333 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS771090216 TGFB2 Health Risk Pathogenic —
RS771090802 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS771091083 L2HGDH Health Risk Likely pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS771091438 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS771092045 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS771092150 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS771092335 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS771092774 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS771092817 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, Inborn genetic diseases
RS771093192 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS771093927 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS771095734 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS771096015 TRMT1 Health Risk Likely pathogenic —
RS771096141 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor of small intestine
RS771096742 USB1 Health Risk Pathogenic —
RS771096772 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS771098028 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS77109850 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS771098555 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS771099379 F2 Health Risk Pathogenic Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS771101410 COL4A5 Health Risk Conflicting classifications of pathogenicity COL4A5-related disorder, Inborn genetic diseases
RS771101723 SPART Health Risk Likely pathogenic Troyer syndrome, Troyer syndrome
RS771101893 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS771103635 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS771104002 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS771104054 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS771104668 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Primary dilated cardiomyopathy
RS771105671 DSPP Health Risk Conflicting classifications of pathogenicity Deafness, autosomal dominant 39
RS771106795 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS7711080 - Health Risk risk factor Colorectal cancer, Colorectal cancer
RS771108132 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS771108371 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS771109295 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS77110978 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS771110521 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS771110626 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS771111145 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS771111180 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS771111377 GNAS Health Risk Conflicting classifications of pathogenicity —
RS771111478 CCDC88C Health Risk Pathogenic —
RS771111803 SKIC3 Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS771113472 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS771113899 NRAS Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS771114416 CPAP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS771114489 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771115196 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS771115225 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS771115661 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS771115907 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS771116739 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771116776 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS771116788 WDR81 Health Risk Pathogenic Microlissencephaly, Microlissencephaly
RS771117099 ADK Health Risk Pathogenic/Likely pathogenic ADK-related disorder, ADK-related disorder
RS771117714 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
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