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
RS780011862 TSFM Health Risk Conflicting classifications of pathogenicity Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS78001248 ACTG2 Health Risk Pathogenic Visceral myopathy 1, ACTG2-related disorder
RS780012601 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS780012957 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS780013139 LPL Health Risk Likely pathogenic Hyperlipidemia, familial combined
RS780013869 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS780014431 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS780014899 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS780015493 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS780017365 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS780017389 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia
RS780018604 TSHR Health Risk Pathogenic/Likely pathogenic Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism
RS780019300 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS780020144 USH2A Health Risk Conflicting classifications of pathogenicity USH2A-related disorder, USH2A-related disorder
RS780020193 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS780020495 BRIP1 Health Risk Pathogenic Breast cancer, early-onset
RS780020505 DHX37 Health Risk Conflicting classifications of pathogenicity Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder
RS780020801 NPHP3 Health Risk Pathogenic NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1
RS780020849 GLE1 Health Risk Pathogenic —
RS780021266 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS780021681 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS780022610 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS780022652 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS780022870 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS780023054 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS780024847 TXNDC15 Health Risk Pathogenic Meckel syndrome 14, Meckel syndrome 14
RS780025201 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lymphatic malformation 6
RS780025714 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS780026011 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS780026159 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS780026522 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS780027666 DNHD1 Health Risk Pathogenic —
RS780030221 AP4M1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Spastic paraplegia
RS780030963 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS780032084 TCTN2 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS780032842 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS780032946 VAV1 Health Risk Conflicting classifications of pathogenicity —
RS780034038 OXGR1 Health Risk Likely pathogenic Nephrolithiasis, calcium oxalate
RS780034057 CEACAM16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780035225 TTN Health Risk Conflicting classifications of pathogenicity —
RS780035527 PPP3CA Health Risk Pathogenic Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
RS780035561 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS780035612 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS780037348 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS780037666 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS780038931 FOXC1 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS780041404 KCNE1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS780041521 LAMB2 Health Risk Pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS780042369 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS780042764 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Inborn genetic diseases
RS780042765 LIPT1 Health Risk Conflicting classifications of pathogenicity Lipoyl transferase 1 deficiency, Leigh syndrome
RS780042783 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS780043425 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS780043965 MAOA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brunner syndrome
RS780043982 TET2 Health Risk Pathogenic —
RS780044721 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS780045364 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS780047867 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS780049836 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS780050498 DSPP Health Risk Conflicting classifications of pathogenicity —
RS780050981 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS78005246 GREM1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS780053382 SIX5 Health Risk Conflicting classifications of pathogenicity —
RS780054979 TBC1D24 Health Risk Conflicting classifications of pathogenicity —
RS780055075 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780055204 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS780055525 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS780057014 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS780058314 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780059308 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS780059442 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS780059558 DDX11 Health Risk Likely pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS780060316 PPP2CA Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS780060495 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS780061154 DYNC2I1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly
RS780061310 EIF2B1 Health Risk Pathogenic —
RS780061589 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, 6 conditions
RS780062429 STT3A Health Risk Pathogenic/Likely pathogenic Congenital disorder of glycosylation, type Iw
RS780062646 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS780062926 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, DiGeorge syndrome
RS780064103 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS780064168 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS780064274 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS780064766 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780065996 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS780066296 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS780066739 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS780067980 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS780068269 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS780068318 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS780068572 MANBA Health Risk Pathogenic/Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS780068818 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS78006948 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS780069818 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS780070113 MED13 Health Risk Pathogenic Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS780071007 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Hypertrichotic osteochondrodysplasia Cantu type
RS780071028 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS780071276 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS780072612 HADHB Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS780072835 ABCG8 Health Risk Pathogenic Cardiovascular phenotype, Sitosterolemia 1
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