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
RS372634401 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS372635204 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS372635387 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A
RS372636246 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS372636295 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS372637185 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS372637398 EIF2AK4 Health Risk Pathogenic —
RS372639360 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS372640024 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS372640326 RBBP8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372640496 SAMD7 Health Risk Pathogenic MACULAR DYSTROPHY WITH CONE DYSFUNCTION, MACULAR DYSTROPHY WITH CONE DYSFUNCTION
RS372641895 AP4M1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS372641908 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS372642536 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases
RS372642550 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS372642708 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Inborn genetic diseases
RS372644047 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372644599 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS372645487 ACACB Health Risk Conflicting classifications of pathogenicity —
RS372645598 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS372645983 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS372646769 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS372647860 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS372648203 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS372648972 CTR9 Health Risk Conflicting classifications of pathogenicity —
RS372649219 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS372650410 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS372651276 DKK1 Health Risk Conflicting classifications of pathogenicity —
RS372651860 VSX2 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS372652727 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS372653001 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, Deficiency of galactokinase
RS372654116 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372655486 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS372655822 TRIM8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372655878 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS372657547 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS372658559 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS372658740 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS372659908 AHI1 Health Risk Pathogenic Joubert syndrome 3, Retinitis pigmentosa
RS372660425 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS372660483 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS372660936 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS372660973 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS372661052 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS372662393 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS372662617 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS372663057 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372663248 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS372664825 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS372665350 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS372665411 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Inborn genetic diseases
RS372667149 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS372668179 LPL Health Risk Pathogenic Hyperlipidemia, familial combined
RS372668612 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS372668691 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS372668776 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS372670098 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS372670428 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS372670941 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS372671421 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS372671684 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS372672508 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372673338 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS372673408 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, LBR-related disorder
RS372673589 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS372673718 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, CUBN-related disorder
RS372673802 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS372673870 PORCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372675935 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, ALAS2-related disorder
RS372677694 MICA Health Risk Conflicting classifications of pathogenicity —
RS372678518 SERPINI1 Health Risk Conflicting classifications of pathogenicity Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases
RS372679456 SLC9A6 Health Risk Conflicting classifications of pathogenicity Christianson syndrome, Christianson syndrome
RS372679788 TBCD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372680224 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS372681220 DVL1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS372681603 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS372682154 PKD1L1 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS372682296 MYO5B Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS372682676 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS372685222 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372685495 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS372685632 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis, Inborn genetic diseases
RS372685774 CEP63 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 6, Seckel syndrome 6
RS372686070 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS372686071 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Joubert syndrome 1
RS372686280 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS372686312 SGCE Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS372688320 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS372688821 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS372688828 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS372689449 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS372690172 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS372691318 NDUFS1 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS372691338 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS372691603 MCM3AP Health Risk Conflicting classifications of pathogenicity —
RS372691803 VCL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1W
RS372693965 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372694084 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS372694758 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS372696633 TCF3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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