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
RS149953814 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Parkinson disease 12
RS149953957 USP7 Health Risk Conflicting classifications of pathogenicity —
RS149955255 NEFH Health Risk Conflicting classifications of pathogenicity NEFH-related disorder, NEFH-related disorder
RS149955375 KCNH2 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS149955783 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS149956015 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS149956122 GSDME Health Risk Conflicting classifications of pathogenicity GSDME-related disorder, GSDME-related disorder
RS149957408 SLC12A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149959487 KCNA1 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 1, Inborn genetic diseases
RS149960336 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS149961298 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS149962284 TCF3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149962459 WNT7A Health Risk Conflicting classifications of pathogenicity —
RS149962461 DNHD1 Health Risk Conflicting classifications of pathogenicity —
RS149963176 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS149963885 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS149964617 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149965853 CLDN16 Health Risk Conflicting classifications of pathogenicity Primary hypomagnesemia, Primary hypomagnesemia
RS149966534 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149967628 PANX1 Health Risk Conflicting classifications of pathogenicity —
RS149968110 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS149968614 JAK1 Health Risk Conflicting classifications of pathogenicity Autoinflammation, immune dysregulation
RS149970077 HPN Health Risk Conflicting classifications of pathogenicity —
RS149970389 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149970399 FAM20A Health Risk Likely pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS149973463 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS149974099 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS149974450 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS149974755 TMEM132E Health Risk Conflicting classifications of pathogenicity —
RS149974794 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Congenital disorder of glycosylation
RS149976085 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS149977726 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy
RS149978361 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149978470 IPO8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, VISS syndrome
RS149978500 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS149979176 SCN4B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 10
RS149979662 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS149980694 TULP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 15
RS149982006 TUBGCP6 Health Risk Conflicting classifications of pathogenicity TUBGCP6-related disorder, TUBGCP6-related disorder
RS149983655 CAMTA2 Health Risk Conflicting classifications of pathogenicity —
RS149984626 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS149985268 ANKRD35 Health Risk Conflicting classifications of pathogenicity —
RS149985988 CD36 Health Risk Pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS149986237 IGLL1 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 2, autosomal recessive
RS149986851 TNC Health Risk Conflicting classifications of pathogenicity Meniere disease, TNC-related disorder
RS149987585 COL10A1 Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Schmid type
RS149987700 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS149988492 TBXAS1 Health Risk Likely pathogenic Thromboxane synthetase deficiency, Ghosal hematodiaphyseal dysplasia
RS149989161 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS149989682 ABCA3 Health Risk Pathogenic/Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Diffuse interstitial pulmonary fibrosis
RS149990643 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS149992209 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS149992222 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS149992595 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Male infertility with spermatogenesis disorder
RS149992874 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, FBN2-related disorder
RS149993107 ATXN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149994404 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS149994721 EPAS1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS149995579 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS149997095 SCARB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS149998444 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, GPR179-related disorder
RS149998549 CFAP418 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 16
RS149998588 EFHC1 Health Risk Conflicting classifications of pathogenicity Juvenile myoclonic epilepsy, Juvenile myoclonic epilepsy
RS149998844 GUCA1A;GUCA1ANB-GUCA1A Health Risk Conflicting classifications of pathogenicity Cone dystrophy 3, Cone dystrophy 3
RS150000483 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum
RS150000610 PDE6B Health Risk Conflicting classifications of pathogenicity PDE6B-related disorder, PDE6B-related disorder
RS150000674 AKT2 Health Risk Conflicting classifications of pathogenicity Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus
RS150000996 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome
RS150001262 PIGZ Health Risk Conflicting classifications of pathogenicity —
RS150001589 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS150001738 INVS Health Risk Pathogenic Nephronophthisis, Infantile nephronophthisis
RS150002885 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS150004100 SLC26A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
RS150004111 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS150004962 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS150005693 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS150007668 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS150008081 PDE6C Health Risk Likely pathogenic —
RS150008448 ATR Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Seckel syndrome 1
RS150008830 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS150009369 MAPKBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAPKBP1-related disorder
RS150009847 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS150010518 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS150010519 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS150010804 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS150012540 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS150013838 SPTB Health Risk Conflicting classifications of pathogenicity SPTB-related disorder, SPTB-related disorder
RS150014480 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS150016625 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS150016888 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS150016894 TSPEAR Health Risk Conflicting classifications of pathogenicity TSPEAR-related disorder, TSPEAR-related disorder
RS150017890 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS150018812 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS150020128 PKD1 Health Risk Pathogenic —
RS150020260 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS150020550 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS150021015 KRT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150021463 SHANK2 Health Risk Conflicting classifications of pathogenicity —
RS150021522 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II
RS150021739 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
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