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
RS765642157 PTPN11 Health Risk Likely pathogenic RASopathy, RASopathy
RS765642230 NR2E3 Health Risk Pathogenic —
RS765643246 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS765643529 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS765644258 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS765644398 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS765644650 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS765645032 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS765645541 ARL6IP6;LOC129934936 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS765645888 TRPM1 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness, TRPM1-related disorder
RS765645957 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS765645971 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS765646245 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS765647346 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS765647846 LRPPRC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765648513 EXT2 Health Risk Pathogenic/Likely pathogenic Exostoses, multiple
RS765649176 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS765649682 F10 Health Risk Likely pathogenic —
RS765649978 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS765650727 NKX6-2 Health Risk Pathogenic/Likely pathogenic Spastic ataxia 8, autosomal recessive
RS765651977 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765651994 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS765652131 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS765652491 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS765652543 NPC1 Health Risk Pathogenic/Likely pathogenic NPC1-related disorder, Niemann-Pick disease
RS765652942 LOX Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 10
RS765653117 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS765653366 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS765653721 TTC7A Health Risk Pathogenic/Likely pathogenic Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS765654409 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS765654690 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS765654692 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS765655100 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS765655737 CTNND2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765655972 PPM1D Health Risk Pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS765657163 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS765657226 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS765657443 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS765657893 LAMC3 Health Risk Conflicting classifications of pathogenicity —
RS765658446 GRIA4 Health Risk Conflicting classifications of pathogenicity GRIA4-related disorder, Inborn genetic diseases
RS765658557 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS765658563 ARR3 Health Risk Pathogenic Myopia 26, X-linked
RS765658939 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS765659555 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS765661601 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS765661825 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS765663530 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS765664259 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, CHEK2-related cancer predisposition
RS765664334 EMC10 Health Risk Pathogenic —
RS765665355 VPS13A Health Risk Conflicting classifications of pathogenicity VPS13A-related disorder, Inborn genetic diseases
RS765666893 CYP1B1 Health Risk Pathogenic Anterior segment dysgenesis 6, Congenital glaucoma
RS765667160 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS765668065 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS765668519 PPIL1 Health Risk Likely pathogenic Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia
RS765669556 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS765669597 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Brugada syndrome 1
RS765669703 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS765669745 OTOF Health Risk Conflicting classifications of pathogenicity —
RS765670568 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS765672149 UNG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS765672355 CASP8 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS765674180 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765674420 SORD Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS765675945 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS765676223 CRB2 Health Risk Pathogenic Ventriculomegaly-cystic kidney disease, Familial idiopathic steroid-resistant nephrotic syndrome
RS765676702 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS765676754 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS765678563 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS765679438 AGRN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 8, Presynaptic congenital myasthenic syndrome
RS765679790 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS765680532 CARD11 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS765681672 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS76568182 KCNE1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2
RS765681925 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS765681990 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765682032 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 3
RS765682282 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Mucolipidosis type II
RS765682604 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS765683395 SMG8 Health Risk Pathogenic Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome
RS765684343 GLIS3 Health Risk Likely pathogenic GLIS3-related disorder, Neonatal diabetes mellitus with congenital hypothyroidism
RS765684436 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS765684724 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS765684774 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS765686051 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS765686151 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS765686702 SCYL1 Health Risk Likely pathogenic —
RS765686939 TBXAS1 Health Risk Conflicting classifications of pathogenicity —
RS765687351 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS765687440 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS765687947 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765688686 DNAH1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Spermatogenic failure 18
RS765688834 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS765690642 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Inborn genetic diseases
RS765691566 LOXHD1 Health Risk Conflicting classifications of pathogenicity LOXHD1-related disorder, LOXHD1-related disorder
RS765692050 BCL11B Health Risk Conflicting classifications of pathogenicity —
RS765692335 FBN1 Health Risk Likely pathogenic Acute aortic dissection, Congenital aneurysm of ascending aorta
RS765693576 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS765695557 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS765695793 LRP5 Health Risk Likely pathogenic Osteoporosis with pseudoglioma, LRP5-related disorder
RS765696008 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
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