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
RS759092293 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS759092928 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS759093548 DGUOK Health Risk Pathogenic —
RS759093976 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS759094008 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Long QT syndrome
RS759094266 SLC6A19 Health Risk Likely pathogenic Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS759094270 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS759094365 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS759095135 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS759095488 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Inborn genetic diseases
RS759095633 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS759096245 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS759096564 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS759096969 HCN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS759097146 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS759097764 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS759098239 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS759098283 POLE Health Risk Likely pathogenic Colorectal cancer, susceptibility to
RS759098964 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS759098979 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS759100606 BMP1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type 13
RS759101002 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS759101551 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS759101859 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS759103361 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Beta-D-mannosidosis
RS759103433 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS759103701 MYCN Health Risk Pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS759104121 CCM2 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Inborn genetic diseases
RS759104377 TSPAN12 Health Risk Conflicting classifications of pathogenicity —
RS759105470 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759106494 ASPA Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS759106605 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS759107183 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS759107218 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Inborn genetic diseases
RS759107735 WHRN Health Risk Conflicting classifications of pathogenicity —
RS759107967 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS759108044 CEP89 Health Risk Conflicting classifications of pathogenicity —
RS759108180 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS759108406 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS759109238 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS759109699 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS759110348 TTC29 Health Risk Likely pathogenic Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder
RS759110420 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS759110815 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS759111483 TYK2 Health Risk Pathogenic Immunodeficiency 35, Immunodeficiency 35
RS759112760 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Retinitis pigmentosa 51
RS759112797 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS759112916 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 2
RS759115381 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS759116351 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS759117573 FBN2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Congenital contractural arachnodactyly
RS759119344 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS759121197 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS759122659 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS759122929 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS759123043 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Inborn genetic diseases
RS759123154 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYH9-related disorder
RS759123296 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Inborn genetic diseases
RS759124032 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS759124324 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS759124595 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS759125473 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Childhood hypophosphatasia
RS759125480 CEP120 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS759125934 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS759126051 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS759126258 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS759127010 PMFBP1 Health Risk Pathogenic Spermatogenic failure 31, Spermatogenic failure 31
RS759127730 CHM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759128363 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS759128700 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS759128787 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS759129920 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS759130031 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS759131391 MKKS Health Risk Pathogenic Retinal dystrophy, Bardet-Biedl syndrome 6
RS759131544 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Connective tissue disorder
RS759131762 PARN Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 6
RS759132017 SLC6A5 Health Risk Likely pathogenic —
RS759133707 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS759134229 GYG1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS759134380 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS759134767 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder
RS759135440 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS759136382 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2
RS759136661 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Inborn genetic diseases
RS759136937 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS759138390 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS759140181 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS759141144 MYH7 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy
RS759141433 HSPG2 Health Risk Pathogenic Autosomal recessive HSPG2-related disorders, Autosomal recessive HSPG2-related disorders
RS759141702 ZNF335 Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism due to ZNF335 deficiency, Microcephalic primordial dwarfism due to ZNF335 deficiency
RS759141794 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS759143613 SAMD9L Health Risk Conflicting classifications of pathogenicity —
RS759143929 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS759144210 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS759145938 GRIN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome
RS759146945 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS759148474 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS759149207 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS759149687 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS759150616 DYNC2I2 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
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