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
RS556510460 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS556513891 RNF213 Health Risk Pathogenic Moyamoya disease 2, Moyamoya disease 2
RS556517027 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS556518689 ADGRG1 Health Risk Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS556524594 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS556530627 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, CSF1R-related disorder
RS55653533 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS556536964 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS556542553 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS556546220 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS556547267 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS556548077 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
RS556550485 EYA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1J
RS55655121 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS55655222 ICOS Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS556552435 TPO Health Risk Pathogenic/Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS556553243 POGZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS556553563 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS556556052 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS556559035 GPIHBP1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS556562410 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Monogenic diabetes
RS55656324 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS556563706 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS556576971 NEIL1 Health Risk Conflicting classifications of pathogenicity —
RS556579725 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS556581174 GCK Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS556585167 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS55658999 AURKC Health Risk Pathogenic Infertility associated with multi-tailed spermatozoa and excessive DNA, Male infertility with spermatogenesis disorder
RS556598169 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS55660516 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS55660660 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS556618384 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS55662069 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS556624010 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS55663050 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS556640912 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS556646437 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS556651007 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lip and oral cavity carcinoma
RS55665437 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS556654678 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS556661896 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS55666220 IFNGR1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 27A, Disseminated atypical mycobacterial infection
RS556669370 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS55667299 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS556673375 HIVEP2 Health Risk Pathogenic —
RS556677734 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS556681288 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS556687525 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS556687934 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS556689644 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, Inborn genetic diseases
RS556692354 PDE6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS556692411 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS55669553 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS556704888 CLCNKA Health Risk Conflicting classifications of pathogenicity Bartter disease type 4B, CHARGE syndrome
RS556707582 SUFU Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS55671452 DDHD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS556715100 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 28
RS556720151 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS55672414 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS556734208 KLK4 Health Risk Pathogenic Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1
RS556734672 MAX Health Risk Conflicting classifications of pathogenicity —
RS556741970 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS556744419 CERKL Health Risk Conflicting classifications of pathogenicity —
RS556745324 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS556745550 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS55674815 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS556748657 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS556749534 RYR1 Health Risk Likely pathogenic RYR1-related myopathy, RYR1-related myopathy
RS556751671 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS556752387 MYO18B Health Risk Pathogenic/Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS556759055 REN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Renal tubular dysgenesis of genetic origin
RS55676195 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS55676763 CLCN5 Health Risk Conflicting classifications of pathogenicity Dent disease type 1, Inborn genetic diseases
RS556778314 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS556778889 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS556779970 PIEZO2 Health Risk Pathogenic Arthrogryposis, distal
RS556780206 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS55678259 CYP4V2 Health Risk Conflicting classifications of pathogenicity Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS556783606 RSPH3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 32, Inborn genetic diseases
RS55678461 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS556784868 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS556788032 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS556788423 FLVCR1 Health Risk Pathogenic/Likely pathogenic Posterior column ataxia-retinitis pigmentosa syndrome, Retinal dystrophy
RS556791789 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS556794126 CYP17A1 Health Risk Pathogenic/Likely pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS55680026 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS556803400 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS556804456 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS556805686 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS556806561 RFX5 Health Risk Pathogenic MHC class II deficiency 3, MHC class II deficiency 3
RS556807466 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS556808514 MICALL2 Health Risk Pathogenic Joubert syndrome 1, Joubert syndrome 1
RS55681376 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS556819076 SLCO2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SLCO2A1-related disorder
RS556820261 TRIM63 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS556827873 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS55682875 GRHL2 Health Risk Conflicting classifications of pathogenicity GRHL2-related disorder, GRHL2-related disorder
RS556829801 GAMT Health Risk Pathogenic/Likely pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS55683010 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS556830991 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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