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
RS762914474 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS762914675 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS762915678 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Hypophosphatasia
RS762918371 TMEM216 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 2
RS762918406 ANO10 Health Risk Pathogenic/Likely pathogenic —
RS762918844 KIF21A Health Risk Conflicting classifications of pathogenicity KIF21A-related disorder, Inborn genetic diseases
RS762920383 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762921297 PARD3 Health Risk risk factor Neural tube defect, Neural tube defect
RS762922278 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS762922379 TSEN54 Health Risk Conflicting classifications of pathogenicity —
RS762923417 PYROXD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762925275 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS762925301 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Citrullinemia
RS762926637 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS762927460 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS762928103 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B
RS762928354 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS762932867 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS762933005 MPO Health Risk Likely pathogenic Myeloperoxidase deficiency, Myeloperoxidase deficiency
RS762934652 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS762935451 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS762936774 GALNT3 Health Risk Pathogenic/Likely pathogenic Tumoral calcinosis, hyperphosphatemic
RS762937286 NTHL1 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS762937296 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS762939072 ASXL1 Health Risk Conflicting classifications of pathogenicity Bohring-Opitz syndrome, ASXL1-related disorder
RS762939986 COL18A1 Health Risk Pathogenic —
RS762941185 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS762941748 ZNF407 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS762941850 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Citrullinemia
RS762941961 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS762942290 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS762942358 SLC6A19 Health Risk Conflicting classifications of pathogenicity —
RS762942366 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS762942751 SLC4A11 Health Risk Conflicting classifications of pathogenicity Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy-perceptive deafness syndrome
RS762944997 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS762945257 ITGA3 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 7
RS762946781 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS762947018 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS762947212 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS762949770 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS762950259 CEP152 Health Risk Pathogenic —
RS762950368 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS762950440 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS762951266 ABCG5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sitosterolemia
RS762951570 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 1, Retinal dystrophy
RS762952445 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS762952740 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Congenital myasthenic syndrome 10
RS762953167 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS762953303 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS762954914 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762955111 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS762957203 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS762957362 TCTN1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS762958757 IFT172 Health Risk Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS762959504 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS762960280 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS762960433 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS762960877 LIPA Health Risk Pathogenic/Likely pathogenic Wolman disease, Cholesteryl ester storage disease
RS762962010 SMARCB1 Health Risk Conflicting classifications of pathogenicity SMARCB1-related schwannomatosis, Rhabdoid tumor predisposition syndrome 1
RS762962091 PCSK1 Health Risk Conflicting classifications of pathogenicity Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS762962608 GEN1 Health Risk Conflicting classifications of pathogenicity GEN1-related disorder, GEN1-related disorder
RS762963804 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS76296470 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS762964798 FGA Health Risk Pathogenic/Likely pathogenic Hypofibrinogenemia, Familial dysfibrinogenemia
RS762967865 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL10A1-related disorder
RS762968127 SFXN4 Health Risk Likely pathogenic —
RS762969612 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NEFH-related disorder
RS762970763 LRP1 Health Risk Pathogenic Developmental dysplasia of the hip 3, Developmental dysplasia of the hip 3
RS762971867 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS762972459 POMGNT1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS762972952 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS762973022 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS762973163 PCARE Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS762974366 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 8
RS762974622 BLOC1S6 Health Risk Pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome
RS762975517 TOPORS Health Risk Likely pathogenic —
RS762979130 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS762979302 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type III
RS762979613 VRK1 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1A, Neuronopathy
RS762979755 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS762980266 NT5C2 Health Risk Likely pathogenic —
RS762980620 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS762980642 BCS1L Health Risk Pathogenic/Likely pathogenic Pili torti-deafness syndrome, GRACILE syndrome
RS762981013 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS762981158 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS762981322 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Long QT syndrome 3
RS762982664 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS762984318 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases
RS762984907 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS762985435 POLE Health Risk Pathogenic/Likely pathogenic Intrauterine growth retardation, metaphyseal dysplasia
RS762985501 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS762985813 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762986044 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS762986369 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS762986683 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS762986714 SLC34A3 Health Risk Conflicting classifications of pathogenicity —
RS762988506 TUBGCP6 Health Risk Likely pathogenic —
RS762988579 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS762989365 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 1
RS762989672 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
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