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
RS146337288 CIC Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 45
RS146338793 ITGB4 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 5A
RS146339375 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS146339735 OAS1 Health Risk Conflicting classifications of pathogenicity OAS1-related disorder, OAS1-related disorder
RS1463397648 LTBP3 Health Risk Pathogenic/Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, LTBP3-related disorder
RS1463398466 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS146340390 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS146341254 RFX5 Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS1463414987 STS Health Risk Pathogenic X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
RS146341538 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS146341569 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS146341756 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS146341788 RIPK4 Health Risk Conflicting classifications of pathogenicity Bartsocas-Papas syndrome 1, Gastric cancer
RS146342092 GRID2 Health Risk Conflicting classifications of pathogenicity GRID2-related disorder, Inborn genetic diseases
RS146342432 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4F, PRX-related disorder
RS146343535 PMPCB Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 6, Inborn genetic diseases
RS1463437378 TG Health Risk Likely pathogenic Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS146343760 GTPBP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146344351 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS146344855 BIVM-ERCC5;ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS1463452514 MPDZ Health Risk Likely pathogenic —
RS1463452672 PLOD3 Health Risk Pathogenic —
RS1463453464 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS146346317 AHNAK Health Risk Conflicting classifications of pathogenicity —
RS1463463495 STAT5B Health Risk Likely pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS146347005 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS146347092 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS146348130 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS146348246 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS146348439 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS146348714 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1463495909 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS146349901 SPR Health Risk Pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder
RS146350010 KCNQ1 Health Risk Conflicting classifications of pathogenicity Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation
RS146351301 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1463516865 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS1463526980 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS146353431 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS146354196 PEX2 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 5A (Zellweger), PEX2-related disorder
RS1463544406 CTNS Health Risk Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS146355600 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS146356199 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, FARS2-related disorder
RS1463563881 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS146357970 AGTR1 Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS1463587370 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS146358872 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS146359055 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS146359682 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS146359866 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS146360442 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS146360505 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS146360951 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS1463609963 ASPM Health Risk Pathogenic Microcephaly, Microcephaly
RS146361173 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hypothermia, RYR1-related disorder
RS146361892 LRRC10 Health Risk Conflicting classifications of pathogenicity —
RS146362081 LRP4 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 17, Sclerosteosis 2
RS1463636749 TYK2 Health Risk Likely pathogenic Immunodeficiency 35, Immunodeficiency 35
RS146363738 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Lethal Kniest-like syndrome
RS1463640534 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS146364154 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, High myopia
RS146364285 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS1463643429 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS146365142 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, HMCN1-related disorder
RS1463651673 FA2H Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 35
RS146365513 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146366047 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS146366248 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS146366996 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS146367309 PRKCG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146370443 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS146371968 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Sarcoma
RS1463722976 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1463725277 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS146372677 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS146372922 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS146374006 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1463743654 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1463746382 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS146374754 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Inborn genetic diseases
RS146374856 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS1463748841 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 3, Joubert syndrome
RS1463751654 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS146375975 NPAP1 Health Risk Conflicting classifications of pathogenicity —
RS1463759914 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1463769342 DDX3X Health Risk Likely pathogenic —
RS146376949 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1463772907 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS146377316 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1463777746 BRAT1 Health Risk Pathogenic/Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS146377793 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS146378222 GJB4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A
RS146378237 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS1463786931 SH3TC2 Health Risk Likely pathogenic Susceptibility to mononeuropathy of the median nerve, mild
RS1463790683 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1463790897 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1463801364 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS146380141 VPS11 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 12, Hypomyelinating leukodystrophy 12
RS1463802125 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS146381223 SLC12A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146381591 AGA Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Intellectual disability
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