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
RS147318065 NSDHL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1473182306 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS147318238 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS147318592 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Neuroblastoma
RS1473188524 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS147318949 MMADHC Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD
RS147318988 ITGB2 Health Risk Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1473192539 SLC34A3 Health Risk Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS147319483 RAG2 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS1473197891 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS1473197986 PEX3 Health Risk Likely pathogenic Peroxisome biogenesis disorder 10A (Zellweger), Peroxisome biogenesis disorder 10A (Zellweger)
RS147319894 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS147319971 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS147320218 GLRB Health Risk Conflicting classifications of pathogenicity Hyperekplexia 2, Hyperekplexia 2
RS147320363 RYR1 Health Risk Conflicting classifications of pathogenicity Myopathy, RYR1-associated
RS1473208611 TRAIP Health Risk Likely pathogenic —
RS147321202 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS147321712 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Hearing impairment
RS1473218681 PIP5K1C Health Risk Pathogenic —
RS147324438 PTCHD1 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS147324566 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS147324677 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Sarcoma
RS1473253247 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS147325795 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS147325843 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 8, Retinitis pigmentosa
RS1473260982 LOX Health Risk Pathogenic/Likely pathogenic Congenital aneurysm of ascending aorta, Acute aortic dissection
RS147326417 CUL7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CUL7-related disorder
RS147326889 NGF Health Risk Conflicting classifications of pathogenicity Congenital sensory neuropathy with selective loss of small myelinated fibers, NGF-related disorder
RS147327209 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS147327878 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS147327991 ENO3 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
RS147328015 COL11A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS1473283139 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, HARS1-related multi-system ataxia syndrome
RS147328317 CRYBB3 Health Risk Conflicting classifications of pathogenicity Cataract 22 multiple types, CRYBB3-related disorder
RS147328328 PKP1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
RS147328685 MTRFR Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Combined oxidative phosphorylation defect type 7
RS147329178 ANK3 Health Risk Conflicting classifications of pathogenicity ANK3-related disorder, ANK3-related disorder
RS147329388 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS147329970 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS147330005 ST3GAL3 Health Risk Conflicting classifications of pathogenicity ST3GAL3-related disorder, Early-infantile DEE
RS147330179 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Proteinuria
RS1473308366 PEPD Health Risk Pathogenic —
RS1473308846 FANCF Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1473309166 KIAA0586 Health Risk Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS1473312640 AASS Health Risk Likely pathogenic Hyperlysinemia, Hyperlysinemia
RS1473339589 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1473339827 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS147334255 MN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CEBALID syndrome
RS1473345628 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 1
RS1473358699 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS147336077 NUP205 Health Risk Conflicting classifications of pathogenicity —
RS147336367 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS147337355 AQP5 Health Risk Conflicting classifications of pathogenicity —
RS147340040 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, TP63-related disorder
RS147340102 CD40LG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1, Inborn genetic diseases
RS147340708 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Inborn genetic diseases
RS1473408518 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS147341899 SH2B3 Health Risk Conflicting classifications of pathogenicity —
RS147341939 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS147342579 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS147343635 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS147344717 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS1473455368 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS147345591 CPAMD8 Health Risk Conflicting classifications of pathogenicity Anterior segment dysgenesis 8, Inborn genetic diseases
RS147345804 AKAP12 Health Risk Conflicting classifications of pathogenicity —
RS1473458290 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1473460404 PLK4 Health Risk Likely pathogenic Microcephaly and chorioretinopathy 2, Microcephaly and chorioretinopathy 2
RS147346327 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS147346345 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Retinal dystrophy
RS147347025 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS147348349 ASCC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147349145 PRKAG2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS1473492838 SLC38A8 Health Risk Pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS147349828 BACH2 Health Risk Conflicting classifications of pathogenicity —
RS1473511018 SLC12A3 Health Risk Pathogenic —
RS147351244 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1473516947 CUL7 Health Risk Likely pathogenic 3M syndrome 1, 3M syndrome 1
RS1473525001 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS147352555 PDZD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147352564 EPHA2 Health Risk Conflicting classifications of pathogenicity Cataract 6 multiple types, Inborn genetic diseases
RS1473531549 KCNJ1 Health Risk Pathogenic —
RS1473532901 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS147353781 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Chronic kidney disease
RS147353838 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS1473538868 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1473539605 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS147354120 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1473541902 ESCO2 Health Risk Pathogenic —
RS147354282 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS147354818 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS147355272 SLC45A2 Health Risk Likely pathogenic —
RS147355465 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
RS1473555311 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS147355936 PDYN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147356105 CFAP43 Health Risk Pathogenic Spermatogenic failure 19, Spermatogenic failure 19
RS147356286 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Inborn genetic diseases
RS147356342 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS147356378 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS1473568112 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS147356927 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia
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