SNP information rs1801020

Research and publications:

  18974842   Gender differences in genetic risk profiles for cardiovascular disease

  19372376   Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.

  19786295   Combined cis-regulator elements as important mechanism affecting FXII plasma levels.

  19933701   Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels.

  20303064   Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.

  20346176   The Mediterranean Sea as a barrier to gene flow: evidence from variation in and around the F7 and F12 genomic regions.

  21071604   The factor XII -4C>T variant and risk of common thrombotic disorders: A HuGE review and meta-analysis of evidence from observational studies.

  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.

  23150947   Single nucleotide polymorphisms and the risk of venous thrombosis: results from a Danish case-cohort study.

  24033266   A systematic approach to assessing the clinical significance of genetic variants.

  25341889   Multilocus genetic risk scores for venous thromboembolism risk assessment.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  26286125   Coagulation factor XII genetic variation, ex vivo thrombin generation, and stroke risk in the elderly: results from the Cardiovascular Health Study.

  26672892   Genetics of ischaemic stroke in young adults.

  26969407   Polymorphisms at the F12 and KLKB1 loci have significant trait association with activation of the renin-angiotensin system.

  27329291   Associations Between Common and Rare Exonic Genetic Variants and Serum Levels of 20 Cardiovascular-Related Proteins: The Tromsø Study.

  27976734   The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease.

  28488549   Prevalence of F5 1691G>A, F2 20210G>A, and MTHFR 677C>T polymorphisms in Bosnian women with pregnancy loss.

  28704393   Whole exome sequence-based association analyses of plasma amyloid-β in African and European Americans; the Atherosclerosis Risk in Communities-Neurocognitive Study.

  29367083   Assessment of two contact activation reagents for the diagnosis of congenital factor XI deficiency.

  30979054   Meta-Analysis of Factor V, Factor VII, Factor XII, and Factor XIII-A Gene Polymorphisms and Ischemic Stroke.

  31058051   Recurrent Miscarriage and Implantation Failure of Unknown Cause Studied by a Panel of Thrombophilia Conditions: Increased Frequency of FXIII Val34Leu Polymorphism.

  32629387   Facets of individual-specific health signatures determined from longitudinal plasma proteome profiling.

  33031748   A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.

  34207366   Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia.

  34263111   Predictive Ability of a Clinical-Genetic Risk Score for Venous Thromboembolism in Northern and Southern European Populations.

  34979665   Cryptogenic Stroke in the Young: Role of Candidate Gene Polymorphisms in Indian Patients with Ischemic Etiology.

  35873600   Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).