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
RS1393197844 RYR1 Health Risk Pathogenic RYR1-related disorder, Malignant hyperthermia
RS139321058 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1393216795 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS139322149 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis
RS139322260 CTPS1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to CTPS1 deficiency, Combined immunodeficiency due to CTPS1 deficiency
RS139322772 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS139323683 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder
RS139325375 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS139325888 EIF2B2 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS139325959 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS139326798 NUP107 Health Risk Conflicting classifications of pathogenicity —
RS139326865 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1393272944 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1393276376 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1393284650 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS139328569 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS1393295095 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS139329533 CLCN7 Health Risk Likely pathogenic —
RS139329616 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder
RS139329625 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS139329966 PRPH2 Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Retinitis pigmentosa
RS139330011 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, TRPC6-related disorder
RS139330366 MFAP5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, MFAP5-related disorder
RS1393310059 FMN2 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 47
RS139331110 SPIDR Health Risk Conflicting classifications of pathogenicity —
RS139332126 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, CSF3R-related disorder
RS139332887 CAD Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 50
RS139333406 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1393341368 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS139334167 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS139334561 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS139335335 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism
RS139336186 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS1393362032 PPP2CA Health Risk Likely pathogenic Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS1393363759 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS139336427 REST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, REST-related disorder
RS139336906 MCM2 Health Risk Conflicting classifications of pathogenicity —
RS139337049 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 2, Martsolf syndrome
RS139337135 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS139337441 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS139337746 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
RS139338050 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS1393386120 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1393388896 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS139339574 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder
RS139340058 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS139340178 CRX Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1393403501 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS139340468 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS139340702 CRX Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1393411490 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS139341177 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139341447 COQ6 Health Risk Conflicting classifications of pathogenicity Familial steroid-resistant nephrotic syndrome with sensorineural deafness, COQ6-related disorder
RS1393427823 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS139342884 IRAK3 Health Risk Conflicting classifications of pathogenicity —
RS139343205 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS139343230 KDM5B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KDM5B-related disorder
RS139343255 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS139344099 ANO5 Health Risk Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS139344907 AHCY Health Risk Conflicting classifications of pathogenicity Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS139344911 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
RS139344943 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS139344968 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, Hecht syndrome
RS1393459956 PGM1 Health Risk Pathogenic/Likely pathogenic —
RS1393461978 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS139346443 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1393465924 DGAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139347804 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS139348170 VNN2 Health Risk Conflicting classifications of pathogenicity —
RS139348197 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS139348491 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS1393494996 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS1393497113 ABCC2 Health Risk Pathogenic —
RS1393503590 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 39
RS139350456 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS139350991 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS139351059 TRMU Health Risk Conflicting classifications of pathogenicity —
RS139351396 PIK3C2A Health Risk Conflicting classifications of pathogenicity PIK3C2A-related disorder, PIK3C2A-related disorder
RS139351534 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS139351727 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS139352103 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS1393522194 IFT172 Health Risk Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1393523308 NDUFS4 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS139352788 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS139352961 DRC1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Inborn genetic diseases
RS139353014 CRYGA Health Risk Conflicting classifications of pathogenicity Developmental cataract, CRYGA-related disorder
RS1393532031 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1393544920 COL3A1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS139354927 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS1393555703 GRIN1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1393566431 CEP55 Health Risk Pathogenic —
RS1393567447 CDH23 Health Risk Pathogenic/Likely pathogenic Usher syndrome, Pituitary adenoma 5
RS139357821 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H
RS1393592663 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS1393599414 PTCH1 Health Risk Conflicting classifications of pathogenicity See cases, Hereditary cancer-predisposing syndrome
RS1393599725 PACS2 Health Risk Conflicting classifications of pathogenicity —
RS139360826 CFH Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Hemolytic uremic syndrome
RS139360916 LIAS Health Risk Conflicting classifications of pathogenicity LIAS-related disorder, LIAS-related disorder
RS139360978 KRT83 Health Risk Conflicting classifications of pathogenicity Monilethrix, Monilethrix
RS139361545 COL4A3 Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Alport syndrome
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