|(C;C)||1||Normal risk of developing heart disease|
|(C;T)||1.5||1.31x increased risk of heart disease|
|(T;T)||1.5||1.31x increased risk of heart disease|
[PMID 21071604] A meta-analysis of publications through July 2009, totaling 4,386 cases (vs 40,089 controls) concluded that apart from a very weak association with myocardial infarction for the rs1801020 (T;T) + (C;T) compared with (C;C) genotype, (odds ratio 1.13, CI: 1.00 - 1.27), the evidence for an association between F12 -4C>T and venous thromboembolism and myocardial infarction was weak.
[PMID 19786295] Combined cis-regulator elements as important mechanism affecting FXII plasma levels
[PMID 21071604] The Factor XII -4C>T Variant and Risk of Common Thrombotic Disorders: A HuGE Review and Meta-Analysis of Evidence From Observational Studies
[PMID 18974842] Gender differences in genetic risk profiles for cardiovascular disease.
[PMID 19372376] Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.
[PMID 19933701] Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels.
[PMID 20346176] The Mediterranean Sea as a barrier to gene flow: evidence from variation in and around the F7 and F12 genomic regions.
[PMID 22388798] Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.
[PMID 23150947] Single nucleotide polymorphisms and the risk of venous thrombosis: results from a Danish case-cohort study
|Disease||FACTOR XII POLYMORPHISM not specified Reduced factor XII activity Hereditary Angioedema|
|CLNDBN||FACTOR XII POLYMORPHISM not specified Reduced factor XII activity Hereditary Angioedema|
|CLNSRC||OMIM Allelic Variant|
|CLNACC||RCV000001226.3, RCV000242780.1, RCV000293630.1, RCV000346234.1,|
[PMID 26286125] Coagulation factor XII genetic variation, ex vivo thrombin generation, and stroke risk in the elderly: results from the Cardiovascular Health Study
[PMID 27656708] Genome-wide association reveals that common genetic variation in the kallikrein-kinin system is associated with serum L-arginine levels.
[PMID 29367083] Assessment of two contact activation reagents for the diagnosis of congenital factor XI deficiency.