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
RS537081933 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS537088660 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS537091457 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS537104966 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS537115632 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Transcobalamin II deficiency
RS537116891 MCM4 Health Risk Conflicting classifications of pathogenicity —
RS537134516 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS537142935 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS537154767 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS537156830 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS537168507 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS537176920 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS537183380 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS537186508 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS537187311 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS537187397 CYP11A1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS537195517 ICOS Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS537206157 SLC52A1 Health Risk Conflicting classifications of pathogenicity Vitamin B2 deficiency, Vitamin B2 deficiency
RS537209983 NKX2-1 Health Risk Conflicting classifications of pathogenicity Benign hereditary chorea, Brain-lung-thyroid syndrome
RS537210445 NOTCH1 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Adams-Oliver syndrome 5
RS537217370 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS537219462 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS537224715 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS537227442 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Hearing loss
RS537233133 ABCC6 Health Risk Conflicting classifications of pathogenicity —
RS537236734 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 12
RS537238935 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS537242377 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS537245615 KMT2A Health Risk Pathogenic —
RS537247534 SCARF2 Health Risk Conflicting classifications of pathogenicity —
RS537248181 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS537248333 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS537257402 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS537258442 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS537259064 MTOR Health Risk Conflicting classifications of pathogenicity Dystonia, early-onset
RS537259520 NT5C2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 45, Hereditary spastic paraplegia
RS537263212 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS537272666 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Breast-ovarian cancer
RS537282263 KRT9 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, epidermolytic
RS537285537 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS537292657 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS537300845 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
RS537303950 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 5A
RS537312655 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS537323347 PIGW Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases
RS537327206 NDUFAF2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS537335460 HADH Health Risk Uncertain significance/Uncertain risk allele Hyperinsulinemic hypoglycemia, familial
RS537336047 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS537344365 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS537353127 VWCE Health Risk Pathogenic Short stature, Short stature
RS537354921 TRPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Trichorhinophalangeal dysplasia type I
RS537366421 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS537368660 ABHD5 Health Risk Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS537369433 MRPS16 Health Risk Conflicting classifications of pathogenicity —
RS537371612 SETD1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS537376932 CEP152 Health Risk Likely pathogenic CEP152-related disorder, CEP152-related disorder
RS537377433 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS537381028 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS537388823 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS537395849 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS537395900 CD8A Health Risk Conflicting classifications of pathogenicity Susceptibility to respiratory infections associated with CD8alpha chain mutation, Susceptibility to respiratory infections associated with CD8alpha chain mutation
RS537408260 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS537409943 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS537417919 TCF3 Health Risk Conflicting classifications of pathogenicity Myeloproliferative neoplasm, unclassifiable
RS537418583 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS537421502 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 7
RS537428006 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS537428242 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS537430475 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS537445902 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS537447022 PRKCSH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS537456518 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS537458442 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS537467155 EXOSC2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
RS537477031 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Legius syndrome
RS537477883 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS537478097 CFB Health Risk Conflicting classifications of pathogenicity Macular degeneration, Atypical hemolytic-uremic syndrome with B factor anomaly
RS537480020 MRPL3 Health Risk Conflicting classifications of pathogenicity —
RS537484504 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS537498754 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS537499946 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS537504476 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS537511128 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS537519042 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS537523906 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS537529014 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS537530179 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS537532878 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS537557592 COL4A4 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS537560378 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS537561870 EYA4 Health Risk Pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS537570299 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS537585211 TSC1 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Tuberous sclerosis 1
RS537587602 DUOX2 Health Risk Pathogenic —
RS537588390 DSP Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiomyopathy
RS537588654 KCNV2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS537593859 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS537594873 EMC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinitis pigmentosa
RS537604099 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS537610140 LRTOMT Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 63, LRTOMT-related disorder
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