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
RS750827513 COQ9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750828226 PRICKLE2 Health Risk Likely pathogenic See cases, See cases
RS750828431 SNF8 Health Risk Pathogenic SNF8-associated disease, Developmental and epileptic encephalopathy 115
RS750829010 ABCB4 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS750830935 NDUFA6 Health Risk Pathogenic Mitochondrial disease, Mitochondrial complex I deficiency
RS750831299 NDUFV1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex I deficiency
RS750832804 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750833108 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS750833160 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS750833867 IL37 Health Risk Pathogenic Inflammatory bowel disease, Inflammatory bowel disease
RS750834241 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Pendred syndrome
RS750835120 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS750835733 CACNA1C Health Risk Pathogenic Long QT syndrome, Long QT syndrome 8
RS750836033 MYH7 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy
RS750836049 SLC2A2 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS750836133 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome
RS750836266 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS750836360 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS750837082 FBN2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Congenital contractural arachnodactyly
RS750838060 COL11A1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS750838511 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS750838853 FH Health Risk Pathogenic —
RS750839091 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS750839601 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS750840208 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS750840234 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, B lymphoblastic leukemia lymphoma with t(12
RS750840362 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS75084078 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS750842366 ESCO2 Health Risk Pathogenic Inborn genetic diseases, Roberts-SC phocomelia syndrome
RS750842859 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS750843149 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS750843326 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS750844090 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS750845399 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS750845916 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS750846632 CLTC Health Risk Likely pathogenic —
RS750848278 PAX6 Health Risk Pathogenic/Likely pathogenic Aniridia 1, Aniridia 1
RS750849080 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS750849285 MEN1 Health Risk Conflicting classifications of pathogenicity MEN1-related disorder, Multiple endocrine neoplasia
RS750849536 SLC7A9 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS750849844 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS750849852 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS750850720 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS750850786 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS750850949 CFI Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly
RS750851792 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750852645 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS750852737 ADCY3 Health Risk Uncertain significance; risk factor BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, ADCY3-related disorder
RS750853380 CHD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS750853882 AP3D1 Health Risk Conflicting classifications of pathogenicity AP3D1-related disorder, AP3D1-related disorder
RS750854950 CCIN Health Risk Pathogenic Spermatogenic failure 91, Spermatogenic failure 91
RS750855113 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS750855317 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS750856173 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS750857784 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750857876 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS750858075 OR2W3 Health Risk Conflicting classifications of pathogenicity —
RS750860161 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS750860338 CYP11B2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750860886 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS75086141 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 7 conditions
RS750862009 ABCA3 Health Risk Pathogenic/Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS750862933 EPHB4 Health Risk Pathogenic —
RS75086406 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS750864641 STRA6 Health Risk Likely pathogenic Microphthalmia, Microphthalmia
RS750864821 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS750865703 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS750866397 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS750866614 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS750867074 MYO15A Health Risk Pathogenic —
RS750868020 COL1A2 Health Risk Conflicting classifications of pathogenicity 7 conditions, Ehlers-Danlos syndrome
RS750869245 TTN Health Risk Conflicting classifications of pathogenicity —
RS750869272 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS750869685 LAMB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cobblestone lissencephaly without muscular or ocular involvement
RS750870502 TNNI3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS750870933 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750870974 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS750871999 FANCL Health Risk Likely pathogenic Fanconi anemia, Inborn genetic diseases
RS750872620 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750872744 CRYGC Health Risk Likely pathogenic —
RS750872878 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS750873571 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS750874617 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS750876165 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750876420 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS750877978 CYP7A1 Health Risk Pathogenic —
RS750880244 FAM20A Health Risk Pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS750880909 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Nonsyndromic genetic hearing loss
RS750881309 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750881596 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Acute myeloid leukemia
RS750881912 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS750882072 HOXA2 Health Risk Conflicting classifications of pathogenicity Bilateral microtia-deafness-cleft palate syndrome, Inborn genetic diseases
RS750882937 SLC26A2 Health Risk Pathogenic/Likely pathogenic Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
RS750883399 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS750883857 SLC35A3 Health Risk Likely pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS750884499 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS750885553 SPART Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750886219 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Primary dilated cardiomyopathy
RS750886274 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS750887042 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
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