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
RS1332603843 BVES Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X
RS1332615728 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS1332616844 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1332617247 PLXNB2 Health Risk Pathogenic See cases, See cases
RS1332623576 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1332632767 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1332636394 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1332653311 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1332659264 NPHP3 Health Risk Pathogenic/Likely pathogenic NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1
RS1332660959 ACOX1 Health Risk Pathogenic/Likely pathogenic Acyl-CoA oxidase deficiency, Mitchell syndrome
RS1332666675 GNB5 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1332668133 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1332706604 AHDC1 Health Risk Likely pathogenic —
RS1332729329 EPM2A Health Risk Pathogenic/Likely pathogenic Lafora disease, Progressive myoclonic epilepsy
RS1332735229 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1332740547 PDE10A Health Risk Likely pathogenic Infantile-onset generalized dyskinesia with orofacial involvement, Infantile-onset generalized dyskinesia with orofacial involvement
RS1332744611 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1332772993 TTN Health Risk Pathogenic —
RS1332790715 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1332801952 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS1332815208 SETD1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with seizures and language delay
RS1332816332 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS1332825012 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Epilepsy
RS1332833799 ALG5 Health Risk Pathogenic Polycystic kidney disease 7, Polycystic kidney disease 7
RS1332875181 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1332881642 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1332885313 C8A Health Risk Pathogenic —
RS1332886505 SPG21 Health Risk Pathogenic/Likely pathogenic Mast syndrome, Mast syndrome
RS1332921412 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1332944383 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1332945612 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS1332950288 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1332966015 GCK Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1332978347 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS1332978515 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1332979299 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1333001112 SELENON Health Risk Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1333016292 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1333049 CDKN2B-AS1 Health Risk risk factor Three Vessel Coronary Disease, Three Vessel Coronary Disease
RS1333066574 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1333079379 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1333081051 ATP6V1B1 Health Risk Pathogenic —
RS1333095977 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS1333100080 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS1333100611 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1333110706 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1333137167 PDE6A Health Risk Pathogenic —
RS1333143280 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS1333158922 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1333161839 SMAD6 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1333181925 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1333207710 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1333247214 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS1333259313 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica
RS1333271656 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1333278223 CYP21A2 Health Risk Pathogenic CYP21A2-related disorder, Congenital adrenal hyperplasia
RS1333280926 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1333287390 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1333307427 SBF1 Health Risk Likely pathogenic —
RS13333226 UMOD Health Risk association Essential hypertension, Essential hypertension
RS1333329860 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1333346461 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1333361833 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1333393611 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1333410252 RHOA Health Risk Likely pathogenic Ectodermal dysplasia with facial dysmorphism and acral, ocular
RS1333421028 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1333436792 SLC39A13 Health Risk Pathogenic Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS1333438254 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1333454413 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1333458369 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1333480915 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS13334842 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1333485956 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Childhood hypophosphatasia
RS1333489321 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1333491071 RIT1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 8
RS1333494917 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1333495798 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS1333503820 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1333513923 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS1333515119 PSMB10 Health Risk Pathogenic Immunodeficiency 121 with autoinflammation, Immunodeficiency 121 with autoinflammation
RS1333517857 EEF1D Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1333519240 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1333536476 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS1333544687 ABCC2 Health Risk Pathogenic —
RS1333549995 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1333555322 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1333565102 FAAH2 Health Risk Pathogenic Meckel-like syndrome, Meckel-like syndrome
RS1333635543 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast cancer, susceptibility to
RS1333638410 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1333647919 MC4R Health Risk Pathogenic MC4R-related disorder, MC4R-related disorder
RS1333651774 TMPRSS3 Health Risk Likely pathogenic Hearing loss, autosomal recessive
RS1333654771 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS13336566 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1333662666 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1333678798 KMT2D Health Risk Pathogenic Kabuki syndrome 1, KMT2D-related disorder
RS1333679774 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1333692140 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS1333697872 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1333701891 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Inborn genetic diseases
RS1333706172 TUBB3 Health Risk Pathogenic —
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