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
RS138288107 CAMTA1 Health Risk Conflicting classifications of pathogenicity Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS138289170 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1382893400 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS138289719 CASZ1 Health Risk Conflicting classifications of pathogenicity —
RS1382897257 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1382898672 PNPLA6 Health Risk Likely pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS138290301 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS138290901 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS138291208 NSMF Health Risk Conflicting classifications of pathogenicity —
RS138291324 CEP135 Health Risk Conflicting classifications of pathogenicity —
RS138291954 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS138292342 RNASEH1 Health Risk Conflicting classifications of pathogenicity RNASEH1-related disorder, RNASEH1-related disorder
RS138292762 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS138293000 COX15 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, COX15-related disorder
RS138293088 MAPT Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia, MAPT-Related Spectrum Disorders
RS138293432 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts
RS138294250 SCO2 Health Risk Conflicting classifications of pathogenicity Cardioencephalomyopathy, fatal infantile
RS1382944823 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS138294801 TTC21B Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS138295148 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS138295270 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Inborn genetic diseases
RS1382953265 DDHD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 28
RS138295722 CAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138296072 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1382962364 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS1382966039 CLCN7 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS138296655 DYNC2I1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases
RS1382987890 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1382988295 APOB Health Risk Pathogenic Hypercholesterolemia, familial
RS138299564 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS1383001370 AUTS2 Health Risk Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1383002765 HENMT1 Health Risk Pathogenic Azoospermia, Azoospermia
RS1383017734 KCNH5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1383021043 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS138303386 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS138303556 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS138303817 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS138303846 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS138304419 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS138305522 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS138305560 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS138305578 POLR3A Health Risk Conflicting classifications of pathogenicity Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy
RS1383055795 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS138306055 DUOX2 Health Risk Conflicting classifications of pathogenicity —
RS1383065231 XDH Health Risk Likely pathogenic Xanthinuria type II, Xanthinuria type II
RS1383067193 MYBPC3 Health Risk Pathogenic Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
RS138306798 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS138307449 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS138307707 SLC17A8 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 25, SLC17A8-related disorder
RS138307850 INTS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, INTS1-related disorder
RS138308013 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS138308105 CLDN16 Health Risk Pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS138308365 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1383088146 ADGRV1 Health Risk Pathogenic —
RS138310082 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS138310635 POU4F3 Health Risk Conflicting classifications of pathogenicity —
RS138310841 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1383111309 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS138312247 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS138313492 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, X-linked cone-rod dystrophy 1
RS138313730 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS138313760 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS138314437 JAM3 Health Risk Conflicting classifications of pathogenicity JAM3-related disorder, Inborn genetic diseases
RS1383146093 ABAT Health Risk Pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1383147250 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Autosomal recessive nonsyndromic hearing loss 2
RS138314893 SEC23B Health Risk Conflicting classifications of pathogenicity Cowden syndrome 7, Congenital dyserythropoietic anemia
RS138315079 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS138315990 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PDE6A-related disorder
RS138316493 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS138317158 RTN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS138317526 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS138317624 ORC4 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2
RS1383200463 CDAN1 Health Risk Pathogenic Anemia, congenital dyserythropoietic
RS138320784 CNGB3 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Achromatopsia 3
RS138320978 RSPH1 Health Risk Pathogenic Primary ciliary dyskinesia 24, Kartagener syndrome
RS138321172 PDK3 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease
RS138322590 NBAS Health Risk Likely pathogenic —
RS1383231039 ABCA4 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Retinal dystrophy
RS1383235943 POP1 Health Risk Pathogenic —
RS1383238492 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS138324067 WARS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuronopathy
RS1383241620 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS1383247620 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138325444 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital myopathy with fiber type disproportion
RS138325578 RPL10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1383256196 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1383256536 MTTP Health Risk Pathogenic —
RS1383262366 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS138326449 APOC3 Health Risk Conflicting classifications of pathogenicity Coronary heart disease, Apolipoprotein c-III deficiency
RS138326802 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS138327042 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS138327406 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS138328181 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS138328594 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency
RS138328785 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS138329311 PTPN23 Health Risk Conflicting classifications of pathogenicity —
RS138329459 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Lethal acantholytic epidermolysis bullosa
RS138329739 IFT122 Health Risk Pathogenic/Likely pathogenic Cranioectodermal dysplasia 1, IFT122-related disorder
RS138329959 CCDC22 Health Risk Conflicting classifications of pathogenicity Ritscher-Schinzel syndrome 2, Ritscher-Schinzel syndrome 2
RS138330966 POMGNT1 Health Risk Conflicting classifications of pathogenicity Congenital Muscular Dystrophy, alpha-dystroglycan related
« Prev 1 ... 447 448 449 450 451 452 453 ... 4509 Next »

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

Get Started Free →