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
RS754586025 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS754586094 CHD5 Health Risk Conflicting classifications of pathogenicity Seizure, Parenti-mignot neurodevelopmental syndrome
RS754586219 POLG Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy
RS754586499 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS754587041 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS754589232 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS754590367 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS754591389 INPPL1 Health Risk Pathogenic —
RS754591857 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS754593633 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS754593655 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS754595005 CEP78 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1
RS754596127 RIT1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 8, Cardiovascular phenotype
RS754596133 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS754596743 TCTN2 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 8
RS75459701 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS754597019 LAMB2 Health Risk Pathogenic LAMB2-related disorder, Pierson syndrome
RS754597283 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS754597311 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS754598297 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS754598605 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, SPTA1-related disorder
RS754599732 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS754600708 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS754600862 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS754601076 DNHD1 Health Risk Pathogenic —
RS754601373 MKS1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS754601386 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS754601686 NPHP3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Nephronophthisis
RS754602382 ATR Health Risk Pathogenic —
RS754603546 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS754603677 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS754604606 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia
RS754606378 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS754606765 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder
RS754607465 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS754609531 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS754609693 ECHS1 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS754609778 HSD3B2 Health Risk Pathogenic Congenital adrenal hyperplasia, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS754609828 SCN11A Health Risk Conflicting classifications of pathogenicity Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7
RS754610170 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS754610647 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS754611265 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS754613008 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS754613602 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Melanoma
RS754613642 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS754613733 DYSF Health Risk Pathogenic —
RS754613799 PIK3R2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754614154 SPTA1 Health Risk Pathogenic Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS754614260 CYP4V2 Health Risk Pathogenic —
RS754615215 TYMP Health Risk Conflicting classifications of pathogenicity —
RS754615545 DOCK6 Health Risk Likely pathogenic —
RS754615597 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS754615624 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS754616030 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS754616167 FLCN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS754616917 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS754617499 RASA2 Health Risk Conflicting classifications of pathogenicity —
RS754618002 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS754618817 SETX Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS754619109 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Somatotroph adenoma
RS754619277 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS754619607 ALDH1A3 Health Risk Likely pathogenic Isolated microphthalmia 8, Isolated microphthalmia 8
RS754619737 TIMP3 Health Risk Conflicting classifications of pathogenicity —
RS754619743 MTRR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS754620334 IBA57 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3
RS754620899 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS754621187 ITGA6 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 6
RS754621494 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 3
RS75462234 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS754623273 DGUOK Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS754623338 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS754623561 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS754624261 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS754624281 PCDH15 Health Risk Pathogenic —
RS754625010 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS754625061 ELP4 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS754625905 TERF2IP Health Risk Conflicting classifications of pathogenicity —
RS754626014 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS754628395 PTH1R Health Risk Conflicting classifications of pathogenicity Primary failure of tooth eruption, Chondrodysplasia Blomstrand type
RS754629346 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS754629447 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS754630324 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS754630732 SERAC1 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria with deafness, encephalopathy
RS754630848 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754632893 MPO Health Risk Pathogenic/Likely pathogenic Myeloperoxidase deficiency, MPO-related disorder
RS754633490 DOK7 Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS754633960 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS754634823 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS754634957 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS754635450 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS754637179 INPP5E Health Risk Pathogenic Joubert syndrome, INPP5E-related disorder
RS754637713 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS754637718 AAAS Health Risk Pathogenic/Likely pathogenic Glucocorticoid deficiency with achalasia, Achalasia-alacrima syndrome
RS754639587 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS754639936 MICU1 Health Risk Pathogenic Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs
RS754640545 CTRC Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS754642174 DIAPH3 Health Risk Conflicting classifications of pathogenicity —
RS754642464 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS754642933 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS754643404 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
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