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
RS539613654 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS539621646 WDR19 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS539628480 NUP107 Health Risk Conflicting classifications of pathogenicity —
RS539657017 ITPR1 Health Risk Conflicting classifications of pathogenicity —
RS539662922 GNAO1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Inborn genetic diseases
RS539670390 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS539671529 STRADA Health Risk Conflicting classifications of pathogenicity Polyhydramnios, megalencephaly
RS539676759 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS539684481 OTOG Health Risk Likely pathogenic OTOG-related disorder, OTOG-related disorder
RS539688337 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS539690413 DOCK6 Health Risk Conflicting classifications of pathogenicity —
RS539691388 LRRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS539699299 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS5397 SLC2A2 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Type 2 diabetes mellitus
RS539703340 GLDN Health Risk Pathogenic Lethal congenital contracture syndrome 11, Polyhydramnios
RS539706443 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS539710314 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS539716201 NPHS1 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Finnish congenital nephrotic syndrome
RS539727841 GRM6 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS539734440 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS539736116 WDR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lazy leukocyte syndrome
RS539737269 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Brugada syndrome
RS539739051 SMAD4 Health Risk Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome
RS539740208 MYH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS539741111 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS539743701 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS539753097 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS539758749 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis 1
RS539760679 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS539763601 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS539765620 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome 3b
RS539767366 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS539768252 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS539769126 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS539772339 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS539772713 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS539784682 OTOG Health Risk Conflicting classifications of pathogenicity —
RS539793378 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS5398 SLC2A2 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Type 2 diabetes mellitus
RS539800267 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS539810910 NUP85 Health Risk Conflicting classifications of pathogenicity —
RS539811607 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, COL11A1-related disorder
RS539815742 ZNF335 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS539819851 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, NEB-related disorder
RS539821357 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS539823013 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS539829239 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS539832134 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS539836429 CYP11B2 Health Risk Pathogenic/Likely pathogenic Corticosterone methyl oxidase type II deficiency, Corticosterone 18-monooxygenase deficiency
RS539836931 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS539841659 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS539843065 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome
RS539850739 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Syndromic complex neurodevelopmental disorder
RS539856643 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS539858835 GRIP1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, Fraser syndrome 3
RS539865839 SLC12A1 Health Risk Pathogenic —
RS539868284 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS539875477 MYH14 Health Risk Conflicting classifications of pathogenicity —
RS539898848 PYGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VI
RS539909716 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS539917500 PRKN Health Risk Conflicting classifications of pathogenicity —
RS539921712 MED13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS539921893 RORA Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS539925873 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS539927192 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS539929888 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS539945827 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS539948794 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS539960851 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS539962457 LIPT2 Health Risk Conflicting classifications of pathogenicity Encephalopathy, neonatal severe
RS539966138 IL2RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS539975714 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS539978799 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS539986030 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS539992718 CC2D1A Health Risk Conflicting classifications of pathogenicity —
RS539992721 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Complement component 3 deficiency
RS539995816 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS540000393 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS540003024 PROM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS540006729 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS540008835 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Pendred syndrome
RS540014314 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Primary dilated cardiomyopathy
RS540023428 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS540023880 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS540038644 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS540049109 PIEZO1 Health Risk Conflicting classifications of pathogenicity Sarcoma, Ovarian serous cystadenocarcinoma
RS540051071 TNS2 Health Risk Conflicting classifications of pathogenicity TNS2-related disorder, TNS2-related disorder
RS540053239 PCYT1A Health Risk Pathogenic/Likely pathogenic Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
RS540061657 SERPINH1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10
RS540072010 TRIM63 Health Risk Pathogenic Inborn genetic diseases, Hypertrophic cardiomyopathy
RS540087535 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS540088883 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia
RS540089974 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS540090187 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS540093295 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS540094720 RGR Health Risk Conflicting classifications of pathogenicity —
RS540108477 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS540113579 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS540115992 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS540117605 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
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