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
RS57740463 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS577406621 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS577406734 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS577410545 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS577419060 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577421006 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS577421663 GHR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577421914 SCN5A Health Risk Conflicting classifications of pathogenicity Sick sinus syndrome 1, Cardiac arrhythmia
RS577422165 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577426394 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS577434138 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS577436926 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS577438163 DSG4 Health Risk Conflicting classifications of pathogenicity —
RS577438813 GLRX5 Health Risk Conflicting classifications of pathogenicity —
RS577442939 SERPINB7 Health Risk Pathogenic Palmoplantar keratoderma, Nagashima type
RS577446263 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS577450124 CYP21A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADRENAL HYPERPLASIA
RS577466163 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS577470721 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS577473121 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS577482351 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS577484119 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Retinal macular dystrophy type 2
RS577487337 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS577487876 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Inborn genetic diseases
RS577489337 CYP11B2 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Corticosterone 18-monooxygenase deficiency
RS577494986 DNAH9 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS577502313 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS577512487 SMO Health Risk Pathogenic Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
RS577520250 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS577536178 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS577544394 SEC63 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577560157 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS577578718 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577581172 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS57758262 KRT9 Health Risk Pathogenic/Likely pathogenic Palmoplantar keratoderma, epidermolytic
RS577583077 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 3
RS577583084 RIPK4 Health Risk Conflicting classifications of pathogenicity Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1
RS57758506 KRT18 Health Risk Pathogenic; risk factor Cirrhosis, cryptogenic
RS577585827 COL2A1 Health Risk Pathogenic —
RS577609846 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS577615373 TBX5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Aortic valve disease 2
RS577617733 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Somatotroph adenoma
RS577618553 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS577625130 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS577625696 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Inborn genetic diseases
RS577629047 CEACAM16 Health Risk Conflicting classifications of pathogenicity Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS577636020 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS577638741 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS577647122 ITGA2;MOCS2 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Platelet-type bleeding disorder 9
RS577651839 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS577652236 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS577657134 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS577659325 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 42, early-onset
RS577664817 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS577667352 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS577667739 SLC2A1 Health Risk Conflicting classifications of pathogenicity Dystonia 9, GLUT1 deficiency syndrome 1
RS577668407 CEP83 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 18, Inborn genetic diseases
RS577672274 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS577672565 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS577674003 OTOG Health Risk Likely pathogenic —
RS577683668 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, NLRP3-related disorder
RS577689341 CEACAM16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577690999 SNORA31 Health Risk risk factor Encephalopathy, acute
RS577697788 RHPN2 Health Risk Conflicting classifications of pathogenicity —
RS577699691 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS577704301 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS577706448 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS577713139 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577714887 COASY Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia, type 12
RS577716745 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS577729544 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS577739840 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS577740063 CPAMD8 Health Risk Likely pathogenic Anterior segment dysgenesis 8, Anterior segment dysgenesis 8
RS577740555 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS577757932 KCNJ11 Health Risk Likely pathogenic —
RS577768294 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS577773438 TOP1MT Health Risk Conflicting classifications of pathogenicity —
RS577781337 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS577784031 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS577791521 SNAP25 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 18, Inborn genetic diseases
RS577794661 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS577796590 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS5778083 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS577812326 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS577821330 AGK Health Risk Conflicting classifications of pathogenicity Cataract 38, Sengers syndrome
RS577831346 THPO Health Risk Conflicting classifications of pathogenicity —
RS577832997 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS577833615 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS577834428 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS57784225 KRT10 Health Risk Pathogenic Epidermolytic hyperkeratosis 2A, autosomal dominant
RS577849807 NKX3-2 Health Risk Conflicting classifications of pathogenicity NKX3-2-related disorder, Inborn genetic diseases
RS577851734 MTRR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE
RS577852020 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS577856870 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS577860868 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577863211 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS577863510 PAX5 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder
RS577888458 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS577890255 DPH2 Health Risk Likely pathogenic diphthamide-deficiency syndrome, Developmental delay with short stature
RS577890523 IL17RD Health Risk Likely pathogenic Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
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