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
RS200963884 SLC26A2 Health Risk Pathogenic/Likely pathogenic Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4
RS200964070 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS200964415 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS200964689 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200964994 HOMER2 Health Risk Conflicting classifications of pathogenicity HOMER2-related disorder, Inborn genetic diseases
RS200965422 MECOM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200965650 NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS200965749 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200965763 C3 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
RS200965784 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS200965928 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200966246 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1
RS200966727 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200966889 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Vici syndrome
RS200967041 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS200967203 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Holoprosencephaly 11
RS200967229 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS200967348 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200967589 C3 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Age related macular degeneration 9
RS200968230 CTNNB1 Health Risk Conflicting classifications of pathogenicity —
RS200968268 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS200968329 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200968679 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200968743 IMPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200968756 DNM2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS200969063 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH5-related disorder
RS200969079 AP4S1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS200969346 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200969445 PDHA2 Health Risk Pathogenic Oligosynaptic infertility, Azoospermia
RS200969468 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS200969641 EIF2B1 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS200969714 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS200969981 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS200970042 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS200970115 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200970121 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group B
RS200970148 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS200970763 PIEZO1 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 6, PIEZO1-related disorder
RS200970775 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS200970855 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
RS200971081 CEP83 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 18, Ciliopathy
RS200971205 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS200971254 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS200971390 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS200971467 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200971499 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease type 5
RS200971871 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS200972155 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS200972189 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200972419 SI Health Risk Pathogenic/Likely pathogenic Sucrase-isomaltase deficiency, Congenital sucrose-isomaltase deficiency
RS200972872 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, autosomal recessive
RS200972908 ZNF41 Health Risk Conflicting classifications of pathogenicity —
RS200972952 SCN9A Health Risk Conflicting classifications of pathogenicity Pain insensitivity, Generalized epilepsy with febrile seizures plus
RS200973120 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13
RS200973136 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS200973262 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS200973415 KDM5B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS200973491 AGK Health Risk Conflicting classifications of pathogenicity Cataract 38, Sengers syndrome
RS200973534 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200973567 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, CACNA2D4-related disorder
RS200973568 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS200974254 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS200974394 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS200974459 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS200975594 FMN2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 47
RS200976093 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS200976140 CENPF Health Risk Pathogenic Stromme syndrome, Stromme syndrome
RS200976464 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS200976506 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
RS200976538 FAM161A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS200976632 ABCC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200977290 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS200977367 PROP1 Health Risk Conflicting classifications of pathogenicity —
RS200977539 TECTA Health Risk Conflicting classifications of pathogenicity —
RS200978001 P2RX2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 41, Autosomal dominant nonsyndromic hearing loss 41
RS200978018 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS200979425 KANSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Koolen-de Vries syndrome
RS200979563 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS200979623 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200979646 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS200979664 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS200979896 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200980335 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, ATR-related disorder
RS200980487 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS200980512 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14
RS200980776 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS200980825 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS200981220 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS200981336 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, PLCG2-related disorder
RS200981366 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS200981903 EMX2 Health Risk Conflicting classifications of pathogenicity Congenital hypogonadotropic hypogonadism, EMX2-related disorder
RS200981928 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS200982037 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS200982385 NEXMIF Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Cantagrel type
RS200982547 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS200982880 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Intellectual disability
RS200983556 OPA1 Health Risk Conflicting classifications of pathogenicity Optic atrophy with or without deafness, ophthalmoplegia
RS200983782 KCNV2 Health Risk Conflicting classifications of pathogenicity KCNV2-related disorder, Inborn genetic diseases
RS200983910 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS200984007 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
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