Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6025
rs6025
F5
0.100 GeneticVariation BEFREE Background The most common cause of activated protein C (aPC) resistance is a missense substitution (Arg506Gln), known as Factor V Leiden (FVL). 30903752

2019

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE No differences were found for FV G1691A or homozygous MTHFR mutations between neonates with CSVT and their mothers, compared to controls. 31025572

2019

dbSNP: rs6025
rs6025
F5
0.100 GeneticVariation BEFREE The R506Q Factor V-Leiden mutation is now usually characterized using molecular biology, and this technique tends to become the first intention assay for characterization of patients. 29162399

2017

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE In this case-control study, we aimed to determine the frequency of prothrombin G20210A and factor V Leiden (FVL) G1691A polymorphisms and protein C, protein S, and antithrombin III deficiencies in the East Algerian population and to investigate whether these genetic factors are associated with VTE. 26304686

2017

dbSNP: rs6025
rs6025
F5
0.100 GeneticVariation BEFREE Two variants in the factor 5 gene (F5), rs6025 encoding for the factor V Leiden mutation R506Q, and rs4524 encoding K858R, have been found to be associated with venous thromboembolism. 27479824

2016

dbSNP: rs6025
rs6025
F5
0.100 GeneticVariation BEFREE To assess Factor V Leiden (FVL) (rs6025), Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), and MTHFR A1298C (rs1801131) gene mutations as risk factors in the development of retinopathy of prematurity (ROP). 27018927

2016

dbSNP: rs6025
rs6025
F5
0.100 GeneticVariation BEFREE The discovery of the factor V Leiden (FVL) missense mutation (Arg506Gln) causing factor V resistance to the anticoagulant action of activated protein C was a landmark that allowed a better understanding of the basis of inherited thrombotic risk. 27797270

2016

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE This study was carried out in 100 patients with hemophilia A. Genotyping for factor V Leiden (FVL) G1691A, prothrombin G20210A, MTHFR C677T, and A1298C mutations was conducted using a real time-polymerase chain reaction (RT-PCR) assay. 26891731

2016

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE Significant differences were found in the frequencies of the genotypes for both the FVL (G1691A) (P<10(-3), odds ratio [OR]=17.4, confidence interval [CI]=6.20-59) and prothrombin (G20210A) (P=.007, OR=5.11, CI=1.30-29) polymorphisms between RVO patients and healthy controls. 24630828

2014

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE Factor V Leiden (FVL) G1691A, Prothrombin (PT) G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T and A128C mutations were evaluated in children with moderate-severe hemophilia A (n = 51) and controls (n = 25). 22411997

2014

dbSNP: rs6025
rs6025
F5
0.100 GeneticVariation BEFREE Risk estimates were unaffected by adjustments for blood type and F5 rs6025 (Factor V Leiden) mutation. 23150947

2013

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE We determined whether the presence of the factor prothrombin gene G20210A variant, factor V gene G1691A mutation (factor V Leiden), and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms may be risk factors for vascular complications in individuals with SCD. 23992124

2013

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE It has been hypothesized that thrombophilic G1691A factor V Leiden (FVL), if detected well ahead in time among recurrent miscarriages may be a treatable. 22990475

2013

dbSNP: rs6025
rs6025
F5
0.100 GeneticVariation BEFREE SNP in the following genes demonstrated association with thrombosis risk overall in the discovery or replication cohorts and were assessed using metaanalytic methods: factor V Leiden (FVL) rs6025 (OR 1.85, p = 0.02) and methylenetetrahydrofolate reductase (MTHFR) rs1801133 (OR 0.75, p = 0.04) in whites, and fibrinogen gamma (FGG) rs2066865 (OR 1.91, p = 0.01) in Hispanic Americans. 22707612

2012

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE The genetic polymorphisms C677T and A1298C relating to the enzyme methylenetetrahydrofolate reductase (MTHFR), a clotting Factor V Leiden mutation (1691G→A substitution of Factor V Leiden), and the mutant prothrombin 20210A allele were analyzed in this study. 22924497

2012

dbSNP: rs6025
rs6025
F5
0.100 GeneticVariation BEFREE Resistance to activated protein C is a risk factor for pregnancy-related venous thrombosis in the absence of the F5 rs6025 (factor V Leiden) polymorphism. 21564075

2011

dbSNP: rs6025
rs6025
F5
0.100 GeneticVariation BEFREE The Factor V Leiden mutation (FVL; c.1601G>A, p.Arg534Gln), the most common aberration underlying activated Protein C resistance, results in disruption of a major anticoagulation pathway and is a leading cause of inherited thrombophilia. 21254846

2011

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE Detection of FVL (G1691A) and FII (G20210A) mutations was carried out using PCR with sequence specific primers. 21269570

2011

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE The frequency of FVL G1691A and ACE D allele in T2DM patients with microalbuminuria were 1.6 and 57%, respectively and in normoalbuminuric T2DM patients were 4.9 and 58.3%, respectively (P > 0.05). 20853144

2011

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE To find association of angiotensin-converting enzyme (ACE) insertion/deletion (I/D), angiotensinogen (AGT) T704C, methylenetetrahydrofolate reductase (MTHFR) C677T and factor V Leiden (FVL) G1691A polymorphisms with pre-eclampsia (PE) in North Indian women. 21564405

2011

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE Eighty DVT patients with the mean age of 42.07 +/- 13.0 years including 44 women and 36 men and 100 sex-matched healthy individuals with the mean age of 37.63 +/- 13.3 years from Kermanshah Province of Iran with ethnic background of Kurd were studied for FVL c.1691G>A, prothrombin g.20210G>A and MTHFR c.677C>T by PCR-restriction fragment length polymorphism (RFLP) method using MnlI, HindIII and HinfI restriction enzymes, respectively. 20479641

2010

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE The G1691A mutation of the factor V gene (factor V Leiden) and the G20210A mutation of the prothrombin gene as risk factors in thrombotic microangiopathies. 19448164

2009

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE The most common genetic defect associated with deep vein thrombosis (DVT) is a mutation in the Factor V gene (G1691A), known as Factor V Leiden (FVL). 19604111

2009

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE In a 12-member, 3-generation kindred with conjoint inheritance of G1691A factor V Leiden (FVL) and G20210A prothrombin gene (PTG) mutations, identified through a proband with amaurosis fugax and his father with nonarteritic ischemic optic neuropathy (NAION), the authors' hypothesis was that ocular thrombosis was a diagnostic window to familial thrombophilia-thrombosis. 18796459

2009

dbSNP: rs751377893
rs751377893
F5
0.100 GeneticVariation BEFREE The protein C (PC), protein S, antithrombin activities, homocysteine levels, and factor V Leiden (FVL) G1691A and prothrombin G20210A mutations were evaluated in 191 patients with VTE and 191 controls. 17895505

2008