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
RS373778424 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS3737787 USF1 Health Risk risk factor Hyperlipidemia, familial combined
RS373778707 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373779426 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS373780035 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS373780305 ADGRV1 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2C
RS373782713 CBS Health Risk Pathogenic Classic homocystinuria, Homocystinuria
RS373782987 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS373783340 POGZ Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Inborn genetic diseases
RS373784591 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DNAH9-related disorder
RS373784599 ATP2C2 Health Risk Conflicting classifications of pathogenicity —
RS373784669 ITGA3 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 7
RS373785144 ACTA1 Health Risk Conflicting classifications of pathogenicity Actin accumulation myopathy, ACTA1-related disorder
RS373785842 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS373785974 RNF216 Health Risk Pathogenic Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
RS373786812 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS373787249 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Inborn genetic diseases
RS373787791 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS373787920 VWF Health Risk Pathogenic/Likely pathogenic Hereditary von Willebrand disease, von Willebrand disorder
RS373788015 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS373788556 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, Inborn genetic diseases
RS373789346 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS373790561 COL11A1 Health Risk Conflicting classifications of pathogenicity Marshall syndrome, Stickler syndrome type 2
RS373790607 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS373790643 GLRB Health Risk Pathogenic Hyperekplexia 2, Hyperekplexia 2
RS373790988 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS373791036 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Polymerase proofreading-related adenomatous polyposis
RS373791435 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373792012 CEP152 Health Risk Pathogenic —
RS373792475 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS373792491 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS373792537 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS373792557 MAT1A Health Risk Likely pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS373792616 IMPG1 Health Risk Pathogenic/Likely pathogenic Isolated macular dystrophy, Retinal dystrophy
RS373793629 LRIT3 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1F, LRIT3-related disorder
RS373793762 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS373794054 INSR Health Risk Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans, Leprechaunism syndrome
RS373795139 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS373796566 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS373796916 SKIC3 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS373797039 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Autoinflammatory syndrome
RS373797219 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS373799322 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS373800401 PJVK Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 59, PJVK-related disorder
RS373801773 TIMP3 Health Risk Conflicting classifications of pathogenicity —
RS373802805 PIKFYVE Health Risk Conflicting classifications of pathogenicity Fleck corneal dystrophy, Inborn genetic diseases
RS373803095 KIZ Health Risk Conflicting classifications of pathogenicity —
RS373803765 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS373804251 DMD Health Risk Pathogenic —
RS373804380 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS373804633 RBBP8 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 2, Jawad syndrome
RS373805140 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS373806031 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS373806373 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS373807514 TNNT3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373807911 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS373807941 TAOK2 Health Risk Conflicting classifications of pathogenicity —
RS373808727 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373809972 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS373810197 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS373810213 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS373811098 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS373811706 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS373811833 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS373812430 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS373812846 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS373813076 ABCA3 Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS373813159 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS373813975 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS373814281 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS373815064 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1S, Cardiovascular phenotype
RS373815705 GJB3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, GJB3-related disorder
RS373816059 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS373816832 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS373817537 TBX22 Health Risk Conflicting classifications of pathogenicity TBX22-related disorder, TBX22-related disorder
RS373817937 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS373818296 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS373818366 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS373818927 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 1
RS373819078 SCN4A Health Risk Conflicting classifications of pathogenicity Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis
RS373819091 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS373819371 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS373819552 GAN;LOC130059498 Health Risk Likely pathogenic Hypotonia, Hypotonia
RS373819680 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS373819727 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schaaf-Yang syndrome
RS373820597 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS373820698 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS373820739 SYNJ1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 53
RS373820763 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS373821754 FLNB Health Risk Pathogenic/Likely pathogenic —
RS373822756 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS373822815 HLCS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS373822878 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS373823132 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS373824162 ASPRV1 Health Risk Pathogenic Autosomal dominant lamellar ichthyosis, Autosomal dominant lamellar ichthyosis
RS3738247 EIF2B3 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, EIF2B3-related disorder
RS373825245 WFS1 Health Risk Likely pathogenic —
RS373826197 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS373827019 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS373828157 TNFRSF13C Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
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