Variant: rs1800562 

    present in Gene: LOC108783645;HFE
    present in Chromosome: 6
    Position on Chromosome: 26092913
    Alleles of this Variant: G/A

rs1800562 in LOC108783645;HFE gene and Alcohol consumption PMID 21665994 2011 Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.

rs1800562 in LOC108783645;HFE gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 20927387 2010 A genome-wide association study of red blood cell traits using the electronic medical record.

rs1800562 in LOC108783645;HFE gene and Diastolic blood pressure PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

rs1800562 in LOC108783645;HFE gene and Ferritin measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

rs1800562 in LOC108783645;HFE gene and Finding of Mean Corpuscular Hemoglobin PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

PMID 20927387 2010 A genome-wide association study of red blood cell traits using the electronic medical record.

rs1800562 in LOC108783645;HFE gene and HEMOCHROMATOSIS, TYPE 1 PMID 22909823 2012 G1691A factor V and G20210A FII mutations, acute ischemic stroke of unknown cause, and patent foramen ovale.

PMID 9569177 1998 Geographic distribution of the 20210 G to A prothrombin variant.

PMID 22023246 2012 Frequency of triple mutations involving factor V, prothrombin, and methylenetetrahydrofolate reductase genes among patients referred for molecular thrombophilia workup in a tertiary care center in Lebanon.

PMID 10406905 1999 Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism.

PMID 24619398 2014 Prothrombin G20210A mutation is associated with young-onset stroke: the genetics of early-onset stroke study and meta-analysis.

PMID 19159930 2009 A cohort of 6,020 men aged 30-53 years was screened for HFE C282Y, H63D, and S65C variants by restriction fragment length polymorphism analysis.

PMID 25528068 2015 Prothrombin G20210A mutation is associated with recurrent pregnancy loss: a systematic review and meta-analysis update.

PMID 18199861 2008 Most persons who are homozygous for C282Y, the HFE allele most commonly asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and transferrin saturation.

PMID 9531249 1998 Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A.

PMID 9162021 1997 The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.

PMID 8916933 1996 A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.

PMID 20723024 2010 Cytoplasmic stabilities of 3'UTR-polymorphic prothrombin mRNAs.

PMID 10477778 1999 The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation.

PMID 8943161 1996 Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.

PMID 11380448 2001 The risk of recurrent venous thromboembolism among heterozygous carriers of the G20210A prothrombin gene mutation.

PMID 9869612 1999 Frequent factor II G20210A mutation in idiopathic portal vein thrombosis.

PMID 9694698 1998 A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene.

PMID 21452290 2011 Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases.

PMID 8696333 1996 A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

PMID 9292507 1997 A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women.

PMID 10027711 1999 The 20210 G-->A mutation in the 3'-untranslated region of the prothrombin gene and the risk for arterial thrombotic disease.

PMID 11583312 2001 Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism--pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Study Group for Pooled-Analysis in Venous Thromboembolism.

PMID 26365338 2015 Given the higher rate of HH diagnosis than in prior studies, the high penetrance of iron overload, and the frequency of at-risk genotypes, in addition to other suggested actionable adult-onset genetic conditions, opportunistic screening should be considered for p.[Cys282Tyr];[Cys282Tyr] individuals with existing genomic data.

PMID 27124787 2016 The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants).

PMID 19554541 2009 HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.

PMID 15858186 2005 Hemochromatosis and iron-overload screening in a racially diverse population.

PMID 22021457 2011 Prothrombin 20210G>A genotype and C-reactive protein level.

PMID 10348711 1999 Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood.

PMID 11812557 2002 Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

PMID 15059842 2004 The prothrombin 3'end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations.

rs1800562 in LOC108783645;HFE gene and Hematocrit procedure PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

rs1800562 in LOC108783645;HFE gene and Hemoglobin measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

rs1800562 in LOC108783645;HFE gene and Hemoglobin, CTCAE PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

rs1800562 in LOC108783645;HFE gene and Hereditary hemochromatosis PMID 9356458 1997 Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.

PMID 16132052 2005 The molecular genetics of haemochromatosis.

PMID 9162021 1997 The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.

PMID 26153218 2016 EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).

PMID 26365338 2015 Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.

rs1800562 in LOC108783645;HFE gene and Iron binding capacity total measurement PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

PMID 21483845 2011 Genome-wide association study identifies genetic loci associated with iron deficiency.

rs1800562 in LOC108783645;HFE gene and Low density lipoprotein cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs1800562 in LOC108783645;HFE gene and Mean Corpuscular Volume (result) PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 20927387 2010 A genome-wide association study of red blood cell traits using the electronic medical record.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

PMID 19820697 2009 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

rs1800562 in LOC108783645;HFE gene and Mean corpuscular hemoglobin concentration determination PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

rs1800562 in LOC108783645;HFE gene and Osteoarthritis of hip PMID 30374069 2018 Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.

rs1800562 in LOC108783645;HFE gene and Pseudocholinesterase Measurement PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

rs1800562 in LOC108783645;HFE gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1800562 in LOC108783645;HFE gene and Serum LDL cholesterol measurement PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs1800562 in LOC108783645;HFE gene and Serum ferritin measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

rs1800562 in LOC108783645;HFE gene and Serum iron measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs1800562 in LOC108783645;HFE gene and Serum total cholesterol measurement PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs1800562 in LOC108783645;HFE gene and Serum transferrin measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs1800562 in LOC108783645;HFE gene and Systolic blood pressure measurement PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

rs1800562 in LOC108783645;HFE gene and Total iron binding capacity function PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

PMID 21483845 2011 Genome-wide association study identifies genetic loci associated with iron deficiency.

rs1800562 in LOC108783645;HFE gene and Transferrin measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs1800562 in LOC108783645;HFE gene and Transferrin saturation measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs1800562 in LOC108783645;HFE gene and White Blood Cell Count procedure PMID 19820697 2009 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.