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
RS561197163 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS561198849 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS56120857 ATP2B2 Health Risk Conflicting classifications of pathogenicity —
RS56120877 EIF2AK3 Health Risk Conflicting classifications of pathogenicity —
RS561213595 CELF4 Health Risk Conflicting classifications of pathogenicity Developmental disorder, Neurodevelopmental disorder
RS561217424 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS56122118 CNTN5 Health Risk Conflicting classifications of pathogenicity —
RS561232438 RTN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS561232842 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS561236067 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS561237622 CFAP300 Health Risk Pathogenic Ciliary dyskinesia, primary
RS561239255 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS56123940 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS561241970 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS56126236 PTCH2 Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS561264067 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS561269721 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS56127440 GCH1 Health Risk Conflicting classifications of pathogenicity Hyperphenylalaninemia due to tetrahydrobiopterin deficiency, GTP cyclohydrolase I deficiency
RS561275177 WNT7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS56128152 FOXI1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS561284402 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS56128736 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS561295443 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS561297650 PNPLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS561300213 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS56130023 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS561302824 HNF4A Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Maturity-onset diabetes of the young
RS561310777 DSC2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS561312836 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS561314652 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS561319491 TTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, 6 conditions
RS561320614 MAFB Health Risk Likely pathogenic MAFB-related disorder, MAFB-related disorder
RS56132571 MYO5A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Griscelli syndrome type 1
RS56132616 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS561330579 CELSR2 Health Risk Likely pathogenic Intellectual disability, Global developmental delay
RS561343926 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS561347333 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS561347675 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS561349636 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS56136489 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinal dystrophy
RS561367199 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS561369202 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS56137239 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS561374961 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Infantile cortical hyperostosis
RS561375550 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS561379509 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS561380021 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS561385337 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-related disorder
RS561389842 DNAJC6 Health Risk Conflicting classifications of pathogenicity Juvenile onset Parkinson disease 19A, Juvenile onset Parkinson disease 19A
RS561397138 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS561398606 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS561401543 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS56141211 GCNT2 Health Risk Pathogenic Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype
RS561421783 GDF6 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 17, Isolated microphthalmia 4
RS561422296 NR3C2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS56142348 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS561425038 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS561426406 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS561427528 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS561431723 TENM4 Health Risk Conflicting classifications of pathogenicity Tremor, hereditary essential
RS56143179 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS561434876 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS561439887 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS561440698 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS56144125 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS561446691 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS561449819 LSS Health Risk Conflicting classifications of pathogenicity Cataract 44, Hypotrichosis 14
RS561452524 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS56146903 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS561470261 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS561470737 ITPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS561471402 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS561475141 SCN5A Health Risk Conflicting classifications of pathogenicity Long QT syndrome 3, Dilated cardiomyopathy 1E
RS56147706 DSTYK Health Risk Conflicting classifications of pathogenicity —
RS56147819 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS561482249 NFU1 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
RS561483849 WNT10B Health Risk Likely pathogenic Split hand-foot malformation 6, Split hand-foot malformation 6
RS56148525 IL21R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS561503117 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS561503305 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS56151272 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS561515655 RECQL Health Risk Conflicting classifications of pathogenicity —
RS561518097 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS561521001 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS561531825 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS56153525 SCNN1G Health Risk Conflicting classifications of pathogenicity Liddle syndrome 2, Pseudohypoaldosteronism
RS561546643 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS561547165 SCN5A Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial
RS561549620 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS561555410 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS561556753 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS561557554 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS561557630 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS561564501 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS561565629 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS561571844 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS56157422 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 12
RS561575026 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS561584664 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS561584807 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
« Prev 1 ... 2947 2948 2949 2950 2951 2952 2953 ... 4509 Next »

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

Get Started Free →