present in Gene: F2
present in Chromosome: 11
Position on Chromosome: 46739505
Alleles of this Variant: G/A
rs1799963 in
F2 gene and
Cerebrovascular accident
PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
PMID 27031503 2016 Prevalence and Geographical Variation of Prothrombin G20210A Mutation in Patients with Cerebral Vein Thrombosis: A Systematic Review and Meta-Analysis.
PMID 15059842 2004 The prothrombin 3'end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations.
PMID 11443298 2001 Increased efficiency of mRNA 3' end formation: a new genetic mechanism contributing to hereditary thrombophilia.
PMID 19652888 2009 The genetics of venous thromboembolism. A meta-analysis involving approximately 120,000 cases and 180,000 controls.
rs1799963 in
F2 gene and
Deep Vein Thrombosis
PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
rs1799963 in
F2 gene and
Inherited Factor II deficiency
PMID 9569177 1998 Geographic distribution of the 20210 G to A prothrombin variant.
PMID 19289024 2009 Thrombophilia: 2009 update.
rs1799963 in
F2 gene and
Ischemic stroke
PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
rs1799963 in
F2 gene and
Pulmonary Embolism
PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
rs1799963 in
F2 gene and
THROMBOPHILIA DUE TO THROMBIN DEFECT
PMID 8696333 1996 A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
PMID 11358905 2001 Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?
PMID 19159930 2009 Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants.
PMID 2429850 1986 Can maximum ouabain-sensitive 86Rb+ uptake rate be obtained by increasing Na+ influx?
PMID 9106528 1997 Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
PMID 9462220 1997 A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.
PMID 11874997 2002 A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.
PMID 23429074 2013 A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice.
PMID 19554541 2009 HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.
PMID 21349849 2011 Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability.
PMID 11904676 2002 Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?
rs1799963 in
F2 gene and
Venous Thromboembolism
PMID 25772935 2015 Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.
PMID 31676865 2019 Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.
PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.
PMID 28373160 2017 Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor.