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SNP information rs1799963

Normal allele: GG

G20210A mutation of the prothrombin F2 gene. 6.74-fold risk of thrombosis

Polymorphism rs1799963 is related to topics like this:

Factor 5 blood clotting disorder

Thrombophilia, an increased tendency to form abnormal blood clots that can obstruct blood vessels,...

G20210A prothrombin mutation

The Prothrombin G20210A mutation, also known as Factor II mutation, is a hereditary trait that...

Infertility genetic

Approximately 15% of couples of reproductive age are affected by infertility, which is a complex...


Research and publications:

  2825773   Nucleotide sequence of the gene for human prothrombin.

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

  9493607   Budd-Chiari syndrome in a patient heterozygous for the G20210A mutation of the prothrombin gene.

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

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

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

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

  10233438   Clinical and analytical relevance of the combination of prothrombin 20210A/A and factor V Leiden: results from a large family.

  10233439   Born to clot: the European burden.

  10336270   The 20210A allele of the prothrombin gene is an independent risk factor for perception deafness in patients with venous thromboembolic antecedents.

  10348710   The prevalence of the prothrombin 20210 G-->A mutation is not increased in angiographically confirmed coronary artery disease.

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

  10348712   The 20210 G to A prothrombin polymorphism and late complications in type 1 diabetes mellitus.

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

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

  10544935   Budd-Chiari syndrome in a patient heterozygous for both factor V Leiden and the G20210A mutation on the prothrombin gene.

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

  11506076   Thrombophilic gene mutations and recurrent spontaneous abortion: prothrombin mutation increases the risk in the first trimester.

  11796466   Unilateral chronic thromboembolic pulmonary disease associated with combined inherited thrombophilia.

  15534175   Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls

  16493002   Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago.

  16846490   Lemierre's syndrome and genetic polymorphisms: case report

  17107626   Comparison of PrASE and Pyrosequencing for SNP Genotyping

  18513389   New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background

  18752569   Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysis.

  18936436   Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994

  19131662   A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients

  19330901   Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study

  19531787   Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review.

  19538716   Genetic risk factors for thrombosis and pharmacogenetic variants of warfarin in a healthy population of San Miguel (Azores).

  19559392   A candidate gene association study of 77 polymorphisms in migraine

  19591822   Prevalence of genetic thrombophilic polymorphisms in the Sri Lankan population--implications for association study design and clinical genetic testing services

  19682239   Replication of findings on the association of genetic variation in 24 hemostasis genes and risk of incident venous thrombosis.

  19786296   Platelet glycoprotein GP VI 13254C allele is an independent risk factor of premature myocardial infarction.

  20031567   Assessing candidate inflammatory and thrombotic genes for venous thromboembolism risk: the Women's Genome Health Study.

  20078877   Gene polymorphisms in association with emerging cardiovascular risk markers in adult women

  20352152   Association of common genetic variations and idiopathic venous thromboembolism. Results from EDITh, a hospital-based case-control study.

  20417488   Association of fetal inflammation and coagulation pathway gene polymorphisms with neurodevelopmental delay at age 2 years

  20691829   Joint effects of common genetic variants from multiple genes and pathways on the risk of premature coronary artery disease.

  21054877   Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994

  21056700   Lack of replication in polymorphisms reported to be associated with atrial fibrillation.

  21239755   Functional polymorphisms of the coagulation factor II gene (F2) and susceptibility to systemic lupus erythematosus.

  21291465   The association of genetic polymorphisms with cerebral palsy: a meta-analysis.

  21332313   Sequence variations in the FII, FV, F13A1, FGB and PAI-1 genes are associated with differences in myocardial perfusion.

  21422408   Clotting factor gene polymorphisms and colorectal cancer risk.

  21463476   Genetic variation within the anticoagulant, procoagulant, fibrinolytic and innate immunity pathways as risk factors for venous thromboembolism.

  21502573   Genetic predictors of fibrin D-dimer levels in healthy adults.

  21659962   Replication of genetic associations in the inflammation, complement, and coagulation pathways with intraventricular hemorrhage in LBW preterm neonates

  21857382   Candidate genes and risk for CP: a population-based study.

  21894447   Are centenarians genetically predisposed to lower disease risk?

  21919968   Validation of genetic variants associated with early acute rejection in kidney allograft transplantation.

  21980494   Genetics of venous thrombosis: insights from a new genome wide association study.

  22147897   Comparative incidence of a first thrombotic event in purely obstetric antiphospholipid syndrome with pregnancy loss: the NOH-APS observational study.

  22273812   Replication and characterisation of genetic variants in the fibrinogen gene cluster with plasma fibrinogen levels and haematological traits in the Third National Health and Nutrition Examination Survey.

  22353194   Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes.

  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.

  22403240   Associations between incident ischemic stroke events and stroke and cardiovascular disease-related genome-wide association studies single nucleotide polymorphisms in the Population Architecture Using Genomics and Epidemiology study.

  22421107   The G534E-polymorphism of the gene encoding the factor VII-activating protease is a risk factor for venous thrombosis and recurrent events.

  22675575   Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis.

  23132613   Genetic association studies in pre-eclampsia: systematic meta-analyses and field synopsis.

  23205182   A genome-wide association study of variations in maternal cardiometabolic genes and risk of placental abruption.

  23533563   Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study.

  23776350   Gene polymorphisms in association with self-reported stroke in US adults.

  23820649   Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

  24226152   Influence of single nucleotide polymorphisms on thrombin generation in factor V Leiden heterozygotes.

  24485400   Influence of factor 5 rs6025 and factor 2 rs1799963 mutation on inhibitor development in patients with hemophilia A--an Israeli-German multicenter database study.

  24944790   Screening for 392 polymorphisms in 141 pharmacogenes.

  25272994   Role of protein S deficiency in children with venous thromboembolism. An observational international cohort study.

  25341889   Multilocus genetic risk scores for venous thromboembolism risk assessment.

  25361584   Subgroups at high risk for ischaemic heart disease:identification and validation in 67 000 individuals from the general population.

  25474356   Highly significant association between two common single nucleotide polymorphisms in CORIN gene and preeclampsia in Caucasian women.

  25542531   Comparison by sex between thrombin generation and fibrin network characteristics in a healthy population.

  25897999   Tobacco smoking strongly modifies the association of prothrombin G20210A with undetermined stroke: consecutive survivors and population-based controls.

  26085721   The Prevalence of the Prothrombin (F2) 20210G>A Mutation in a Cohort of Sri Lankan Patients with Thromboembolic Disorders.

  26260058   Two novel genetic variants in the mineralocorticoid receptor gene associated with spontaneous preterm birth.

  26423325   F11 is associated with recurrent VTE in women. A prospective cohort study.

  26715857   Insights into genetic susceptibility in the etiology of spontaneous preterm birth.

  26784699   Genetic Determinants of Thrombin Generation and Their Relation to Venous Thrombosis: Results from the GAIT-2 Project.

  26791477   The effects of genes implicated in cardiovascular disease on blood pressure response to treatment among treatment-naive hypertensive African Americans in the GenHAT study.

  26888256   Novel genetic predictors of venous thromboembolism risk in African Americans.

  26982741   Single Nucleotide Variant rs2232710 in the Protein Z-Dependent Protease Inhibitor (ZPI, SERPINA10) Gene Is Not Associated with Deep Vein Thrombosis.

  27018927   Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort.

  27233255   Association of gene polymorphisms of FV, FII, MTHFR, SERPINE1, CTLA4, IL10, and TNFalpha with pre-eclampsia in Chinese women.

  27306359   Association Between the G20210A Polymorphism of Prothrombin Gene and Myocardial Infarction in Tunisian Population.

  27589735   A Genomics-Based Model for Prediction of Severe Bioprosthetic Mitral Valve Calcification.

  27616475   Gene variants as risk factors for gastroschisis.

  27766050   Causes of venous thrombosis.

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

  28086795   Atherosclerotic and thrombotic genetic and environmental determinants in Egyptian coronary artery disease patients: a pilot study.

  28317214   Characterization of blood flow through intrapulmonary arteriovenous anastomoses and patent foramen ovale at rest and during exercise in stroke and transient ischemic attack patients.

  28345611   Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families.

  28544373   Genetic markers for inherited thrombophilia are associated with fetal growth retardation in the population of Central Russia.

  28889200   Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V.

  29051591   Prothrombin G20210A (rs1799963) polymorphism increases myocardial infarction risk in an age-related manner: A systematic review and meta-analysis.

  29094466   Joint effects of prothrombotic genotypes and body height on the risk of venous thromboembolism: the Tromsø study.

  29190926   Polymorphism of the ABO gene associate with thrombosis risk in patients with paroxysmal nocturnal hemoglobinuria.

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