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
RS375640580 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS375640581 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS375640847 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375641621 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS375641853 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Inborn genetic diseases
RS375642491 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spondylometaphyseal dysplasia - Sutcliffe type
RS375642836 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS375644184 HNF1B Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Renal cysts and diabetes syndrome
RS375644378 WDR19 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 5
RS375645171 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS375646029 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS375646186 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS375646700 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS375646776 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS375648531 TBX18 Health Risk Conflicting classifications of pathogenicity TBX18-related disorder, Inborn genetic diseases
RS375648820 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS375649094 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS375650263 SNRNP200 Health Risk Conflicting classifications of pathogenicity —
RS375650413 NDUFS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375651364 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS375652279 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS375652574 TTN Health Risk Conflicting classifications of pathogenicity —
RS375653808 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375654005 HADHB Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 1
RS375654386 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS375655372 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, HPS4-related disorder
RS375655409 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 2, von Willebrand disease type 2
RS375656231 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS375657115 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375657597 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS375657891 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS375659222 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS375659415 USP19 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS375659466 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Myopathy
RS375661171 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS375661192 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS375661404 NEK8 Health Risk Pathogenic/Likely pathogenic Renal-hepatic-pancreatic dysplasia 2, Premature ovarian insufficiency
RS375661578 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS375661583 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS375663114 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS375663526 PPP2R5D Health Risk Conflicting classifications of pathogenicity Hogue-Janssens syndrome 1, Inborn genetic diseases
RS375664122 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS375664373 MICU1 Health Risk Pathogenic/Likely pathogenic Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs
RS375665454 LITAF Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease
RS375665715 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS375666281 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS375667028 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS375667567 FN1 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS375668376 USH2A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A
RS375669228 AHCY Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS375669260 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, FREM1-related disorder
RS375669366 KCNJ5 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS375669404 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS375669985 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS375670091 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS375670819 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS375670899 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS375672100 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS375672539 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS375672575 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS375673671 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS375674083 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS375674582 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS375675171 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS375675796 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS375676529 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375678713 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, STAR-related disorder
RS375679311 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS375680312 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive titinopathy, Autosomal recessive titinopathy
RS375681801 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, Microcytic anemia
RS375682055 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Ovarian serous cystadenocarcinoma
RS375682284 PIGO Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS375682747 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS375682913 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS375683615 PLCD1 Health Risk Conflicting classifications of pathogenicity Nonsyndromic congenital nail disorder 3, PLCD1-related disorder
RS375684020 AGPS Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS375686551 DGUOK Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DGUOK-related disorder
RS375687099 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS375688061 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS375688749 DLL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375688767 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Lamellar ichthyosis
RS375690568 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, GALK1-related disorder
RS375692636 GFAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375693256 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
RS375693396 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375693647 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS375693686 TTN Health Risk Conflicting classifications of pathogenicity —
RS375694023 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS375695147 ERBB2 Health Risk Conflicting classifications of pathogenicity —
RS375695605 KDM5B Health Risk Pathogenic Intellectual disability, autosomal recessive 65
RS375695940 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS375695945 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS375698090 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS375698520 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS375699023 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS375699133 FLNB Health Risk Pathogenic —
RS375699185 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Idiopathic Pulmonary Fibrosis
RS375699349 KARS1 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy, progressive
RS375700263 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS375700548 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Inborn genetic diseases
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