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
RS398124654 FLRT3 Health Risk Pathogenic Hypogonadotropic hypogonadism 21 with or without anosmia, Hypogonadotropic hypogonadism 21 with or without anosmia
RS398607 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS398652 - Health Risk association Chronic osteomyelitis, Chronic osteomyelitis
RS3997877 PRKRA Health Risk Conflicting classifications of pathogenicity Dystonia 16, Dystonia 16
RS3997879 PRKRA Health Risk Conflicting classifications of pathogenicity Dystonia 16, Dystonia 16
RS4010613 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, ABCD1-related disorder
RS401502 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS4018172 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Malignant tumor of esophagus
RS4019784 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia complementation group A
RS4021006 NOTCH2 Health Risk Conflicting classifications of pathogenicity —
RS4029402 NCF1 Health Risk Pathogenic Granulomatous disease, chronic
RS40457 RIPK2 Health Risk Uncertain risk allele Leprosy, susceptibility to
RS4080078 GH1 Health Risk Conflicting classifications of pathogenicity Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
RS409652 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
RS409953 CFH Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, Basal laminar drusen
RS4124874 covers 10 genes, none of which curated to show dosage sensitivity Health Risk Conflicting classifications of pathogenicity Gilbert syndrome, susceptibility to
RS41265225 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS41265246 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS41265669 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS41266677 ASTN2;TRIM32 Health Risk Conflicting classifications of pathogenicity Sarcotubular myopathy, Bardet-Biedl syndrome 11
RS41266761 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS41267007 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS41267074 NEU1 Health Risk Conflicting classifications of pathogenicity Sialidosis type 2, Sialidosis type 2
RS41267517 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2
RS41267671 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS41267696 JARID2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS41268053 ZMPSTE24 Health Risk Conflicting classifications of pathogenicity Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy
RS41268456 MR1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, MR1-related disorder
RS41268671 SCN9A Health Risk Conflicting classifications of pathogenicity Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain
RS41268689 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS41269105 UROD Health Risk Conflicting classifications of pathogenicity Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS41269309 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS41269323 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS41269549 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS41269557 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS41269833 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS41270025 PPOX Health Risk Pathogenic/Likely pathogenic Variegate porphyria, See cases
RS41270454 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS41270545 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis, Leber congenital amaurosis
RS41271499 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin
RS41271617 NT5E Health Risk Conflicting classifications of pathogenicity NT5E-related disorder, Hereditary arterial and articular multiple calcification syndrome
RS41271627 SNX14 Health Risk Conflicting classifications of pathogenicity SNX14-related disorder, Thyroid cancer
RS41271773 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS41272437 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS41272440 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS41272455 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Ischemic stroke
RS41272661 FASTKD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Adrenocortical carcinoma
RS41272685 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS41272687 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS41272699 DES Health Risk Conflicting classifications of pathogenicity Congenital diaphragmatic hernia, Myofibrillar myopathy
RS41272767 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS41272913 TOPORS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS41273519 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS41273521 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS41273523 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS41273533 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS41273722 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS41273726 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS41273818 PRPH2 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Adult-onset foveomacular vitelliform dystrophy
RS41273880 ELOVL5 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 38, Spinocerebellar ataxia type 38
RS41274176 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS41274284 SLC6A4 Health Risk Conflicting classifications of pathogenicity Behavior disorder, Behavior disorder
RS41274460 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS41274468 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1
RS41274484 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder
RS41274600 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS41274610 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS41274676 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, ANK3-related disorder
RS41274786 EPRS1 Health Risk Pathogenic —
RS41274865 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS41274867 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS41275003 AGK Health Risk Conflicting classifications of pathogenicity Sengers syndrome, Cataract 38
RS41275239 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS41275669 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS41275900 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS41276145 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS41276187 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS41276445 CACNA1D Health Risk Conflicting classifications of pathogenicity Aldosterone-producing adenoma with seizures and neurological abnormalities, Sinoatrial node dysfunction and deafness
RS41276525 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ventricular tachycardia
RS41276706 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, CACNA1C-related disorder
RS41276738 VWF Health Risk Pathogenic von Willebrand disease type 2N, von Willebrand disease type 1
RS41277190 CENPF Health Risk Conflicting classifications of pathogenicity —
RS41277374 NEBL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS41277546 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS41277724 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS41277795 FKTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Walker-Warburg congenital muscular dystrophy
RS41277797 FKTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS41277801 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS41277835 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS41277873 CACNA1B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
RS41278047 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Thrombotic microangiopathy
RS41278210 DNAJC5 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS41278234 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS41278359 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS41279055 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS41279408 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Hypoprebetalipoproteinemia
RS41280330 GNAT2 Health Risk Conflicting classifications of pathogenicity Achromatopsia 4, GNAT2-related disorder
RS41280332 AMPD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9
RS41280414 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Hypertrophic cardiomyopathy 15
RS41280798 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
« Prev 1 ... 2860 2861 2862 2863 2864 2865 2866 ... 4509 Next »

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

Get Started Free →