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
RS769596933 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS769597479 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Thymoma
RS769599129 PRICKLE1 Health Risk Conflicting classifications of pathogenicity Epilepsy, progressive myoclonic
RS769600024 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS769600540 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 2
RS769601403 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS769601481 KCNH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769601671 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 1
RS769602042 SPG7 Health Risk Likely pathogenic Hereditary spastic paraplegia 7, Leukoencephalopathy with vanishing white matter 1
RS769602520 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, KIF1B-related disorder
RS769602726 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS769603091 COG7 Health Risk Pathogenic —
RS769603144 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS769605183 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Craniosynostosis 7
RS769605933 DUOX2 Health Risk Conflicting classifications of pathogenicity —
RS769606385 CRKL Health Risk Conflicting classifications of pathogenicity —
RS769607196 SLC2A2 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS769608639 VAC14 Health Risk Pathogenic Yunis-Varon syndrome, Striatonigral degeneration
RS769608818 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS769609152 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS769609857 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS769609970 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS769610035 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS769610487 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS769611275 SAMD9L Health Risk Conflicting classifications of pathogenicity Ataxia-pancytopenia syndrome, SAMD9L-related disorder
RS769612789 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS769612846 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS769615121 CFH Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome
RS769615182 NF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS769617113 CTC1 Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS769617558 IL17F Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS769617600 TTN Health Risk Conflicting classifications of pathogenicity —
RS769617823 AMHR2 Health Risk Pathogenic —
RS769617896 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS769618486 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS769618862 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS769619405 RDH5 Health Risk Likely pathogenic Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS769619561 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS769619568 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS769620847 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS769622495 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Regional enteritis
RS769623826 SLC20A2 Health Risk Pathogenic —
RS769623856 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS769624093 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS769624146 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769625033 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS769625349 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis
RS769625871 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS769627183 TGFB3 Health Risk Conflicting classifications of pathogenicity Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS769627306 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS769627423 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Inborn genetic diseases
RS769627725 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS769630098 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS769630735 DLL1 Health Risk Conflicting classifications of pathogenicity —
RS769631146 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS769631321 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS769631334 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS769631929 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS769632007 CLCN4 Health Risk Conflicting classifications of pathogenicity —
RS769632130 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS769632183 CERKL Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS769632836 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K
RS769633203 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS769634275 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS769634298 SCN4A Health Risk Conflicting classifications of pathogenicity Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16
RS769634470 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS769634658 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS769635187 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS769635764 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS769636919 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS769637090 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS769637393 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS76963800 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769638625 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS769639705 DHTKD1 Health Risk Pathogenic/Likely pathogenic DHTKD1-related disorder, 2-aminoadipic 2-oxoadipic aciduria
RS769639753 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS769640225 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS769641351 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS769643348 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769644289 ACOX1 Health Risk Pathogenic/Likely pathogenic Acyl-CoA oxidase deficiency, Mitchell syndrome
RS769644598 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS769645972 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS769646757 RIPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769646940 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS769648248 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, Inborn genetic diseases
RS769650688 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS769650989 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS769651265 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS769651565 AGBL5 Health Risk Pathogenic —
RS769651861 TRAF3IP1 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS769652427 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 2
RS769652613 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS769653136 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS769653533 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS769653717 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, ASPA-related disorder
RS769654694 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS769655038 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS769655497 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS769655731 SCN7A Health Risk Likely pathogenic —
RS769656114 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
« Prev 1 ... 3514 3515 3516 3517 3518 3519 3520 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →