Variant: rs1799945 

    present in Gene: LOC108783645;HFE
    present in Chromosome: 6
    Position on Chromosome: 26090951
    Alleles of this Variant: C/G;T

rs1799945 in LOC108783645;HFE gene and Blood Pressure PMID 21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

PMID 22100073 2011 Blood pressure loci identified with a gene-centric array.

rs1799945 in LOC108783645;HFE gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1799945 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.

PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

rs1799945 in LOC108783645;HFE gene and Diastolic blood pressure measurement PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

rs1799945 in LOC108783645;HFE gene and Ferritin 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?

rs1799945 in LOC108783645;HFE gene and Finding of Mean Corpuscular Hemoglobin PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1799945 in LOC108783645;HFE gene and HEMOCHROMATOSIS, TYPE 1 PMID 14729817 2004 The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.

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

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

PMID 21243428 2011 Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells.

PMID 19176287 2009 Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participants.

PMID 22531912 2012 Loss of central and peripheral CD8+ T-cell tolerance to HFE in mouse models of human familial hemochromatosis.

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

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

PMID 23178241 2013 These results suggest that it may be useful to test for both HFE H63D and C282Y polymorphisms in patients with iron overload, as opposed to just genotyping for the C282Y SNP, which is customary in some healthcare centers.

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

PMID 18199861 2008 Iron-overload-related disease in HFE hereditary hemochromatosis.

PMID 11874997 2002 A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.

PMID 25767899 2015 Unusual retinopathy associated with hemochromatosis.

PMID 10381492 1999 The C282Y mutation causing hereditary hemochromatosis does not produce a null allele.

PMID 12436244 2002 Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload.

PMID 9585606 1998 The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations.

PMID 9341868 1997 A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.

PMID 9321765 1997 Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.

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 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.

rs1799945 in LOC108783645;HFE gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1799945 in LOC108783645;HFE gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 19820698 2009 Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.

rs1799945 in LOC108783645;HFE gene and Hemoglobin, CTCAE PMID 19820698 2009 Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.

rs1799945 in LOC108783645;HFE gene and Hereditary hemochromatosis PMID 11358905 2001 Additionally, we sequenced the HFE gene of H63D homozygotes with HH.

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

PMID 11479183 2001 HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology.

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

PMID 11874997 2002 A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.

PMID 11399207 2008 Contribution of different HFE genotypes to iron overload disease: a pooled analysis.

PMID 12429850 2002 The hemochromatosis protein HFE inhibits iron export from macrophages.

PMID 16132052 2005 The molecular genetics of haemochromatosis.

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

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 24729993 2014 Iron overload is rare in patients homozygous for the H63D mutation.

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

PMID 14673107 2003 Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.

rs1799945 in LOC108783645;HFE gene and Hypertensive disease PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

rs1799945 in LOC108783645;HFE gene and Iron level result PMID 21208937 2011 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

rs1799945 in LOC108783645;HFE gene and Iron measurement PMID 21208937 2011 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

rs1799945 in LOC108783645;HFE gene and Mean blood pressure PMID 27618448 2016 Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

rs1799945 in LOC108783645;HFE gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1799945 in LOC108783645;HFE gene and RDW - Red blood cell distribution width result PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs1799945 in LOC108783645;HFE gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

rs1799945 in LOC108783645;HFE gene and Red cell distribution width determination PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs1799945 in LOC108783645;HFE gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1799945 in LOC108783645;HFE gene and Serum ferritin 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?

rs1799945 in LOC108783645;HFE gene and Serum iron 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 21208937 2011 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

rs1799945 in LOC108783645;HFE gene and Systolic Pressure PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for 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.

PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

rs1799945 in LOC108783645;HFE gene and Systolic blood pressure measurement PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

rs1799945 in LOC108783645;HFE gene and Transferrin saturation 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?