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
RS727505312 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS727505316 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS727505319 TTN Health Risk Pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS727505321 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS727505325 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS727505328 MYLK2 Health Risk Conflicting classifications of pathogenicity —
RS727505337 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa
RS727505339 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS727505343 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS727505350 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505352 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS727505353 NEXN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 20
RS727505357 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS727505359 OTOF Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Nonsyndromic genetic hearing loss
RS727505361 CARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
RS727505362 BRAT1 Health Risk Pathogenic/Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS727505363 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS727505364 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS727505365 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS727505366 IL17RD Health Risk Likely pathogenic Delayed puberty, Delayed puberty
RS727505367 GNRHR Health Risk Pathogenic/Likely pathogenic Delayed puberty, Hypogonadotropic hypogonadism 7 with or without anosmia
RS727505368 - Health Risk Likely pathogenic Delayed puberty, Delayed puberty
RS727505369 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 7 with or without anosmia, Delayed puberty
RS727505370 FGFR1 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Delayed puberty
RS727505371 FGFR1 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Delayed puberty
RS727505372 TAC3 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Delayed puberty
RS727505373 FGFR1 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Delayed puberty
RS727505374 ANOS1 Health Risk Pathogenic/Likely pathogenic Delayed puberty, Hypogonadotropic hypogonadism 7 with or without anosmia
RS727505375 TACR3 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS727505376 FGFR1 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS727505377 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS727505381 SOS1 Health Risk Pathogenic Noonan syndrome, RASopathy
RS727505391 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS727505392 WNT1 Health Risk Pathogenic Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15
RS727505393 DYNC1H1 Health Risk Likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
RS727505394 MYO5B Health Risk Likely pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS727505395 MYO5B Health Risk Likely pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS727505396 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS727505397 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS72751287 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS72756867 GOLGA2 Health Risk Conflicting classifications of pathogenicity GOLGA2-related disorder, GOLGA2-related disorder
RS72758823 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS72759474 LMF1 Health Risk Conflicting classifications of pathogenicity LMF1-related disorder, Lipase deficiency
RS72762644 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS72763296 TPRN Health Risk Conflicting classifications of pathogenicity —
RS72765839 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS72766379 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS72773422 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS72775611 CHD1 Health Risk Conflicting classifications of pathogenicity —
RS72782250 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 45
RS72787346 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder
RS72787376 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS72789443 KARS1 Health Risk Conflicting classifications of pathogenicity —
RS72795277 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS72796720 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia 1
RS72807571 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS72811487 PIEZO1 Health Risk Pathogenic/Likely pathogenic ER BLOOD GROUP SYSTEM, ER(a-b-)
RS72811754 ADGRF3 Health Risk Conflicting classifications of pathogenicity —
RS72819758 SHOC2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome and Noonan-related syndrome
RS72832119 SLC26A2 Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4
RS72835351 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS72835683 FKBP10 Health Risk Pathogenic —
RS72849355 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS72852032 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS72861054 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS72861528 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS72862973 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS72866991 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS72883650 CERKL;ITGA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS72898945 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS72905825 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS7290898 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Transcobalamin II deficiency
RS7291467 LGALS2 Health Risk risk factor Myocardial infarction, susceptibility to
RS72946534 QRSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS72954276 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS72969704 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Inborn genetic diseases
RS72999042 YY1AP1 Health Risk Conflicting classifications of pathogenicity YY1AP1-related disorder, Inborn genetic diseases
RS73003348 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Lisch epithelial corneal dystrophy
RS73003466 ORC4 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 2, Inborn genetic diseases
RS73015965 PLG Health Risk Pathogenic/Likely pathogenic Plasminogen deficiency, type I
RS73019664 SCN9A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 7
RS73020251 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS730254 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS73035708 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS73036368 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS73036377 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS73038337 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS73038342 TTN Health Risk Conflicting classifications of pathogenicity —
RS73055857 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS73058292 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS73066396 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS73066400 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS73067029 PTH1R Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
RS7308720 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS73087649 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS730880013 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS730880014 MAFB Health Risk Pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy
RS730880015 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS730880016 TCF12 Health Risk Conflicting classifications of pathogenicity TCF12-related craniosynostosis, Inborn genetic diseases
RS730880017 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
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