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
RS765923395 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS765924360 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS765924757 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS765925466 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Chronic infantile neurological
RS765926045 WASHC5 Health Risk Pathogenic Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS765926181 PAX6 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, Aniridia 1
RS765926471 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
RS765927456 CYP11B2 Health Risk Pathogenic —
RS765927570 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS765928741 SERPINF1 Health Risk Conflicting classifications of pathogenicity —
RS765928877 PGAP3 Health Risk Likely pathogenic Hyperphosphatasia-intellectual disability syndrome, Hyperphosphatasia-intellectual disability syndrome
RS765929402 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS765929630 CDH1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary diffuse gastric adenocarcinoma
RS765929647 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS765930349 TTN Health Risk Conflicting classifications of pathogenicity —
RS765931465 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS765931769 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765933558 KNG1 Health Risk Pathogenic Angioedema, hereditary
RS765934021 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS765934383 FKTN Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS765934604 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS765934820 MYO15A Health Risk Conflicting classifications of pathogenicity MYO15A-related disorder, MYO15A-related disorder
RS765935351 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS765936799 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Fetal akinesia
RS765937590 TMPRSS15 Health Risk Pathogenic/Likely pathogenic Enterokinase deficiency, Enterokinase deficiency
RS765938298 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS765938367 ABCG8 Health Risk Conflicting classifications of pathogenicity —
RS76593842 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS765939287 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS765940770 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS765941217 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS765941470 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS765941497 HAX1 Health Risk Conflicting classifications of pathogenicity Kostmann syndrome, Inborn genetic diseases
RS765941616 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS765942432 FBN1 Health Risk Pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Familial thoracic aortic aneurysm and aortic dissection
RS765942523 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS765943080 NSUN3 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 48, Combined oxidative phosphorylation deficiency 48
RS765943112 LAMA3 Health Risk Pathogenic —
RS765943218 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS765943226 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS765944082 LOXHD1 Health Risk Conflicting classifications of pathogenicity —
RS765948222 ITK Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Lymphoproliferative syndrome 1
RS765950547 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS765950779 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765951750 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS765951860 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765952535 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS765952713 ADCY5 Health Risk Conflicting classifications of pathogenicity Dyskinesia with orofacial involvement, autosomal recessive
RS765953819 RRM2B Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
RS765954398 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS765955245 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS765956155 CFI Health Risk Conflicting classifications of pathogenicity CFI-related disorder, CFI-related disorder
RS765956720 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS765956865 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
RS765957120 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS765957571 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS765957925 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS765958123 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765958312 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765960304 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS765960386 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS765961551 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS765962519 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS765965513 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS765965968 TBC1D24 Health Risk Likely pathogenic Epilepsy, progressive myoclonic
RS765966679 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS765967405 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS765968701 STAR Health Risk Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, STAR-related disorder
RS765968784 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS765969481 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS765969571 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS765970053 FAN1 Health Risk Pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS765970420 CYB5R3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765970732 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases
RS765971817 TMEM127 Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Hereditary pheochromocytoma and paraganglioma
RS765974121 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS765974570 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Inborn genetic diseases
RS765975578 GTPBP3 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 23, GTPBP3-related disorder
RS765975804 TJP2 Health Risk Conflicting classifications of pathogenicity Hypercholanemia, familial 1
RS765975825 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS765975898 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS765976119 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS765976563 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS765977046 ADGRV1 Health Risk Likely pathogenic —
RS765977497 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS765978945 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS765979499 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765979836 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765980788 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS765981100 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765981178 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS765981944 PARN Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 6
RS765982075 WASHC5 Health Risk Conflicting classifications of pathogenicity Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8
RS765982317 GPR50 Health Risk Conflicting classifications of pathogenicity —
RS765982831 SOX2 Health Risk Likely pathogenic —
RS765982916 F5 Health Risk Pathogenic/Likely pathogenic Factor V deficiency, Congenital factor V deficiency
RS765983264 TRIM37 Health Risk Conflicting classifications of pathogenicity Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS765984252 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS765985758 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS765985953 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
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