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
RS561585320 GUF1 Health Risk Conflicting classifications of pathogenicity —
RS561588576 ITGB6 Health Risk Pathogenic Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
RS561588731 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS561588772 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS561591139 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS561591789 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS561598805 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 5, Joubert syndrome
RS561600163 PDE6A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS56160159 MAP3K1 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 6
RS561604238 NDUFA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS561607837 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS56161058 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS561612231 ABCB4 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS561618839 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS561618945 RLBP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS56162833 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS561633150 SLC2A9 Health Risk Conflicting classifications of pathogenicity SLC2A9-related disorder, Hypouricemia
RS56163554 STRADA Health Risk Conflicting classifications of pathogenicity Polyhydramnios, megalencephaly
RS561638764 EMC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS561640998 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, Retinal dystrophy
RS561645994 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS561646250 GYS1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS56164633 CILK1 Health Risk Conflicting classifications of pathogenicity —
RS561646689 AP5Z1 Health Risk Conflicting classifications of pathogenicity —
RS561653481 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS561656938 VPS53 Health Risk Conflicting classifications of pathogenicity —
RS56165709 USH1C Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS561657958 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS561658895 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS56165933 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS561664381 SIPA1L3 Health Risk Conflicting classifications of pathogenicity —
RS561666802 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS561668093 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS561674468 CLCNKB Health Risk Conflicting classifications of pathogenicity Bartter disease type 3, Bartter disease type 4B
RS561675407 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
RS561679213 KIF1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic ataxia 2
RS561680100 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS561680253 OTOA Health Risk Pathogenic —
RS56169243 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Cardiovascular phenotype
RS561693723 CDH23 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Autosomal recessive nonsyndromic hearing loss 12
RS561694657 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS561698107 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS56170027 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS561701030 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, SLC37A4-related disorder
RS56170584 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS561712812 UNC119 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Cone-rod dystrophy
RS561717036 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, TRPM1-related disorder
RS561719071 ANO5 Health Risk Pathogenic/Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS561723497 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS56172926 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS56173620 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Polymicrogyria
RS561736266 NEB Health Risk Conflicting classifications of pathogenicity —
RS56173868 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS56173891 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS56173896 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS56174006 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS561743358 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS56174879 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS561748985 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS56175056 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS56175199 CYP1B1 Health Risk Pathogenic Anterior segment dysgenesis 6, Glaucoma 3A
RS561774487 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS56177555 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS561776134 COG6 Health Risk Conflicting classifications of pathogenicity COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
RS561778796 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS56178910 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, TMPRSS3-related disorder
RS56179254 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS561800688 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Uterine corpus endometrial carcinoma
RS561800947 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS561804945 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS561810058 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS56181243 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tibial muscular dystrophy
RS561818288 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS561823980 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS561828305 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS561830314 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS561848502 GLRA1 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 1, Hereditary hyperekplexia
RS56184981 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS561852174 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS56185292 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS561856394 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Inborn genetic diseases
RS561858384 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS561870637 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis
RS561872655 IL1RN Health Risk Conflicting classifications of pathogenicity Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis
RS561874453 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS561879014 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS561880652 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Inborn genetic diseases
RS561890042 PDE8B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS561893279 LAMC3 Health Risk Pathogenic —
RS561895292 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS561898521 AGK Health Risk Conflicting classifications of pathogenicity Sengers syndrome, Cataract 38
RS561904103 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS561904743 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS56191073 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS56191579 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS561922486 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS561932256 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS561936787 PIEZO1 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 6, Lymphatic malformation 6
RS561941052 MYO5B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS56194662 PRPH2 Health Risk Conflicting classifications of pathogenicity Patterned macular dystrophy 1, Adult-onset foveomacular vitelliform dystrophy
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