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
RS766768674 MYH3 Health Risk Pathogenic MYH3-related disorder, MYH3-related disorder
RS766768686 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS766769445 COL7A1 Health Risk Likely pathogenic —
RS766769900 NR2E3 Health Risk Conflicting classifications of pathogenicity —
RS766769998 TBC1D24 Health Risk Pathogenic DOORS syndrome, Autosomal recessive nonsyndromic hearing loss 86
RS766771165 AARS2 Health Risk Pathogenic —
RS766771526 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS766771784 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS766772376 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS766772846 GK Health Risk Pathogenic Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency
RS766772944 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS766773277 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Spastic paraplegia
RS766773448 CDK5RAP2 Health Risk Likely pathogenic —
RS766773531 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS766773845 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS766774125 GATA3 Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism, deafness
RS766775007 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS766775649 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS766776212 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS766776589 ENTPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 64, Inborn genetic diseases
RS766776902 AGA Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Aspartylglucosaminuria
RS766777011 CNTNAP2 Health Risk Pathogenic/Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS766778442 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS766779196 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS766779254 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS766780122 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS766780281 SLC24A1 Health Risk Pathogenic Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS766780476 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glomerulopathy with fibronectin deposits 2
RS766783183 KRT25 Health Risk Pathogenic Hypotrichosis 8, Wooly hair
RS766783227 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, CODAS syndrome
RS766783280 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis
RS766784590 SON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766785648 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS766785968 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS766786160 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS766786579 AIFM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency
RS766786605 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS766787311 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS766787576 CEP120 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly
RS766790920 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS766793648 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766794815 FUCA1 Health Risk Pathogenic/Likely pathogenic Fucosidosis, Fucosidosis
RS766796504 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS766796997 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS766798648 SLC22A12 Health Risk Pathogenic Dalmatian hypouricemia, Dalmatian hypouricemia
RS766799023 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS766799310 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS766799764 TBXAS1 Health Risk Conflicting classifications of pathogenicity Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS766799921 DNAH9 Health Risk Pathogenic DNAH9-related disorder, DNAH9-related disorder
RS766801011 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS766806062 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS766806139 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS766806729 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766807173 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS766808076 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, FBN2-related disorder
RS766809690 TRIOBP Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS766810445 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Inborn genetic diseases
RS766810560 LSS Health Risk Likely pathogenic —
RS766810849 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS766811013 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
RS766811365 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS766811493 ORC4 Health Risk Pathogenic —
RS766811699 TTC21B Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS766811975 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS766813076 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS766814244 TAOK2 Health Risk Conflicting classifications of pathogenicity —
RS766814533 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, SERPINF1-related disorder
RS766814650 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS766814966 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Legius syndrome
RS766814997 OBSCN Health Risk risk factor Rhabdomyolysis, susceptibility to
RS766815155 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS766816050 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS766816100 TCTN1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS766816427 CLCNKB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bartter disease type 3
RS766816598 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS766816759 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766816785 PNKP Health Risk Likely pathogenic —
RS766817285 LDB3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1C, Myofibrillar myopathy 4
RS766817317 LIPE Health Risk Likely pathogenic LIPE-related familial partial lipodystrophy, LIPE-related familial partial lipodystrophy
RS766817979 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS766818430 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS766819210 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS766819324 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS766819764 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Inborn genetic diseases
RS766819782 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS766820627 EMC1 Health Risk Conflicting classifications of pathogenicity Cerebellar atrophy, visual impairment
RS766820906 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS766823872 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS766824018 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS766825748 SCO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766827189 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS766827673 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS766827969 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS766828352 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS766829760 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS766829965 CEMIP2 Health Risk Pathogenic 6 conditions, 6 conditions
RS766830864 NDUFV1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Leigh syndrome
RS766831438 KIAA0753 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 38, Joubert syndrome 38
RS766831597 ABCB7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766832061 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Autism
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