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
RS1265323526 SLC18A2 Health Risk Pathogenic Brain dopamine-serotonin vesicular transport disease, Brain dopamine-serotonin vesicular transport disease
RS1265333590 SLC2A9 Health Risk Likely pathogenic SLC2A9-related disorder, SLC2A9-related disorder
RS1265340906 GRIK2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1265352306 PDGFRA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS1265352633 BRCA1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Hereditary breast ovarian cancer syndrome
RS1265366427 ORAI1 Health Risk Likely pathogenic Myopathy, tubular aggregate
RS1265368591 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1265369157 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS1265370991 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Elevated circulating creatine kinase concentration
RS1265375100 UBR1 Health Risk Pathogenic/Likely pathogenic Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS1265381182 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS1265382491 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1265391373 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1265410646 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Hyperinsulinemic hypoglycemia
RS1265411161 EMC1 Health Risk Pathogenic —
RS1265421045 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS12654264 HMGCR Health Risk association Low density lipoprotein cholesterol level quantitative trait locus 3, Low density lipoprotein cholesterol level quantitative trait locus 3
RS1265437249 MERTK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1265456777 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1265464096 DEPDC5 Health Risk Pathogenic/Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1265493319 CHRNG Health Risk Pathogenic Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1265536815 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Hereditary cancer-predisposing syndrome
RS1265544300 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1265547595 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1265561583 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1265596566 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1265628439 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1265632174 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1265642949 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS1265655451 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1265658401 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS1265664823 TAPT1 Health Risk Likely pathogenic Complex lethal osteochondrodysplasia, Complex lethal osteochondrodysplasia
RS1265669915 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1265678329 ALS2 Health Risk Conflicting classifications of pathogenicity ALS2-related disorder, Amyotrophic lateral sclerosis type 2
RS1265680220 PDE6A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1265683288 RUSC2 Health Risk Pathogenic —
RS1265717222 HNF1A Health Risk Likely risk allele Type 2 diabetes mellitus, Maturity-onset diabetes of the young
RS1265727354 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1265748598 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS1265764649 SLC26A2 Health Risk Pathogenic/Likely pathogenic Sulfate transporter-related osteochondrodysplasia, Achondrogenesis
RS1265774517 DAW1 Health Risk Pathogenic Primary ciliary dyskinesia, Ciliary dyskinesia
RS1265790137 USP53 Health Risk Pathogenic/Likely pathogenic See cases, Cholestasis
RS1265809314 MAP2K1 Health Risk Likely pathogenic Cardiofaciocutaneous syndrome 3, Cardiofaciocutaneous syndrome 3
RS1265812765 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS1265814223 ADGRV1 Health Risk Conflicting classifications of pathogenicity Monogenic hearing loss, Monogenic hearing loss
RS1265832990 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1265840106 ABCA4 Health Risk Pathogenic Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy
RS1265868770 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1265892085 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1265895182 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS1265902011 GNAO1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1265911468 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1265949362 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS1265969343 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1266041812 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1266042922 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1266047546 TCOF1 Health Risk Likely pathogenic —
RS1266051315 ERCC2 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1266053680 ABCC8 Health Risk Likely pathogenic Maturity-onset diabetes of the young, Hyperinsulinemic hypoglycemia
RS1266064055 CEP250 Health Risk Pathogenic —
RS1266068657 TRPV6 Health Risk Likely pathogenic Hyperparathyroidism, transient neonatal
RS1266078341 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1266090046 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1266098984 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1266102026 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS1266104510 NCSTN Health Risk Pathogenic —
RS1266114717 MALT1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
RS1266152010 PCNT Health Risk Pathogenic PCNT-related disorder, PCNT-related disorder
RS1266187397 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1266192229 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS1266192644 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1266198754 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1266206916 ABCC6 Health Risk Likely pathogenic —
RS1266211447 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1266229950 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 1
RS1266240114 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1266242324 TSEN54 Health Risk Pathogenic Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 5
RS1266250537 PAX1 Health Risk Pathogenic/Likely pathogenic —
RS1266251678 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1266259634 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1266265578 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1266288524 KLK4 Health Risk Pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS1266294051 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1266297781 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1266298136 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1266313425 ARSG Health Risk Pathogenic —
RS1266327660 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS1266345519 LRPPRC Health Risk Likely pathogenic —
RS1266348463 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1266350933 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA5-related disorder
RS1266358260 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1266361856 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2A2
RS1266363944 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis, Retinitis pigmentosa 12
RS1266375962 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS1266378538 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1266389046 RXYLT1 Health Risk Pathogenic —
RS1266397026 POLE Health Risk Pathogenic —
RS1266443165 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Autosomal dominant nonsyndromic hearing loss 11
RS1266458783 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1266489077 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
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