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
RS573119781 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS573123885 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS573125799 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS573136400 TTN Health Risk Conflicting classifications of pathogenicity —
RS57315342 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS573154781 CD19 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS573157071 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS573158320 SPINK5 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Inborn genetic diseases
RS573163079 PDE11A Health Risk Conflicting classifications of pathogenicity Pigmented nodular adrenocortical disease, primary
RS573164516 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS573165930 TTN Health Risk Conflicting classifications of pathogenicity —
RS573177564 DHODH Health Risk Conflicting classifications of pathogenicity Miller syndrome, Miller syndrome
RS573185206 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS57318642 LMNA Health Risk Conflicting classifications of pathogenicity Mandibuloacral dysplasia with type A lipodystrophy, Hutchinson-Gilford syndrome
RS573187346 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS573192954 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS573213368 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS573218266 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS573222502 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS573246972 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS573255254 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS573258363 GSDME Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GSDME-related disorder
RS573267388 PMPCA Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2
RS573270795 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS573275770 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS573279159 BIVM-ERCC5;ERCC5 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS573282005 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS573282230 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS573282381 FBN2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
RS573290117 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS573290536 TTC21B Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS573301881 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS573302664 HIBCH Health Risk Conflicting classifications of pathogenicity 3-hydroxyisobutyryl-CoA hydrolase deficiency, See cases
RS573306680 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 6
RS57330753 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS573308525 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS573313754 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, AGT-related disorder
RS573319891 TTLL5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS573322878 FGF23 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS573327073 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, Inborn genetic diseases
RS573330522 COCH Health Risk Conflicting classifications of pathogenicity COCH-related disorder, COCH-related disorder
RS573350587 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta
RS573353481 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS573353679 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS573362121 FLNC Health Risk Pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS573374779 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS573384357 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS573384750 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS573388805 FLG Health Risk Pathogenic —
RS573399358 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS573401319 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS573406234 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS573415766 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS573418899 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS573424409 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS573426783 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS573431795 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS573432153 COL7A1 Health Risk Pathogenic 7 conditions, 7 conditions
RS573432571 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS573432728 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS573433508 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS573435546 RRM2B Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS573438233 SPTB Health Risk Likely pathogenic —
RS573444140 SLC12A6 Health Risk Pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS573444416 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS57344541 AHCY Health Risk Conflicting classifications of pathogenicity Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS573447174 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS573454071 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS573463511 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS573466361 MTOR Health Risk Conflicting classifications of pathogenicity —
RS573472397 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, FBXL4-related disorder
RS573474554 TNRC6A Health Risk Conflicting classifications of pathogenicity —
RS573476401 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS57348201 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex 2B, generalized intermediate
RS573482671 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS573483617 CTSF Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases
RS573484984 IL21R Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Inborn genetic diseases
RS573487375 DUOX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS573493017 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS573498430 GCKR Health Risk Conflicting classifications of pathogenicity —
RS573499594 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS573508258 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS573509767 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS573510559 LBR Health Risk Pathogenic/Likely pathogenic Regressive spondylometaphyseal dysplasia, Pelger-Huët anomaly
RS573511043 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS573514896 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS573518562 POMGNT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS573523090 CIITA Health Risk Likely pathogenic MHC class II deficiency 1, MHC class II deficiency 1
RS573525939 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS573527081 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Nephrotic syndrome
RS573528468 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS573530168 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS573535377 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS573545872 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder
RS573554562 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS573566419 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS573567814 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS573577299 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Inborn genetic diseases
RS573582812 RGPD8 Health Risk Conflicting classifications of pathogenicity —
RS573586512 MYO15A Health Risk Likely pathogenic —
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