Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE We aimed at establishing a real-time PCR protocol for the detection of the venous thromboembolism associated mutations factor V Leiden (F5 c.1691G>A; p.R506Q) and prothrombin (F2) c.20210G>A from whole blood, without DNA extraction. 30439355

2019

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE Factor V G1691A (FV-Leiden) and prothrombin (PRT) G20210A single nucleotide polymorphisms (SNPs) are major inherited risk factors of venous thromboembolism. 16261289

2005

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE Insofar as the inherited prothrombotic single nucleotide polymorphisms (SNPs) factor V G1691A (FV-Leiden), prothrombin (PRT) G20210A, and methylenetetrahydrofolate reductase (MTHFR), C677T are inherited risk factors of venous thromboembolism (VTE), the aim of this study was to determine the prevalence of single and combined SNPs in 198 patients with documented deep venous thrombosis (DVT), and 697 control subjects, and to estimate the associated risks. 16082606

2005

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE Statistically significant associations with VTE were identified for factor V G1691A (OR 9.45; 95% CI 6.72-13.30, p < 0.0001), factor V A4070G (OR 1.24; 95% CI 1.02-1.52, p = 0.03), prothrombin G20210A, (OR 3.17; 95% CI 2.19-3.46, p < 0.00001), prothrombin G11991A, (OR 1.17; 95% CI 1.07-1.27, p = 0.0007), PAI-1 4G/5G, (OR 1.62; 95% CI 1.22-2.16, p = 0.0008), alpha-fibrinogen Thr312Ala (OR 1.37; 95% CI 1.14-1.64, p = 0.0008), all in Caucasian populations. 19652888

2009

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE Venous thromboembolism at a young age in a brother and sister with coinheritance of homozygous 20210A/A prothrombin mutation and heterozygous 1691G/A factor V Leiden mutation. 10456622

1999

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE The coexistence of FV G1691A and elevated Lp(a) was significantly more prevalent among patients with VTE than in the control group (7% versus 0.8%; P <.001, OR 9.8, 95% CI, 2.4-40.7). 11071628

2000

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE Coagulation factor II G20210A and coagulation factor V (Leiden) G1691A single nucleotide polymorphisms (SNPs) are major inherited risk factors of venous thromboembolism. 22744422

2012

dbSNP: rs899127658
rs899127658
F2
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

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE Factor V G1691A (Leiden), prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T mutations are considered risk factors for venous thromboembolism. 15886665

2005

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE In conclusion, coagulant factor V gene G1691A mutation and protein S deficiency constitute important genetic risk factors in patients with VTE in Eastern Algeria. 26304686

2017

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE Factor V Leiden (Factor V G1691A), prothrombin gene mutation G20210A, and homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene are known to predispose venous thromboembolism (VTE). 19520679

2010

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE The risk of recurrent venous thromboembolism in carriers and non-carriers of the G1691A allele in the coagulation factor V gene and the G20210A allele in the prothrombin gene. DURAC Trial Study Group. Duration of Anticoagulation. 10365737

1999

dbSNP: rs552953108
rs552953108
F2
0.060 GeneticVariation BEFREE Because both factor V R506Q</span> and the HR2 haplotype are very frequent, the effect of their coinheritance on the risk of venous thromboembolism might represent a clinically relevant issue, and screening for HR2 in carriers of factor V R506Q should be considered. 10556190

1999

dbSNP: rs552953108
rs552953108
F2
0.060 GeneticVariation BEFREE We developed a genome-wide polygenic risk score for venous thromboembolism that identifies 5% of the population at an equivalent incident venous thromboembolism risk to carriers of the established factor V Leiden p.R506Q and prothrombin G20210A mutations. 31676865

2019

dbSNP: rs552953108
rs552953108
F2
0.060 GeneticVariation BEFREE We aimed at establishing a real-time PCR protocol for the detection of the venous thromboembolism associated mutations factor V Leiden (F5 c.1691G>A; p.R506Q) and prothrombin (F2) c.20210G>A from whole blood, without DNA extraction. 30439355

2019

dbSNP: rs552953108
rs552953108
F2
0.060 GeneticVariation BEFREE The determination of the factor II: G20210A variant in index patients carrying a factor V: R506Q mutation and, if present, in family members may help to identify individuals who are at high risk for VTE. 11737249

2001

dbSNP: rs552953108
rs552953108
F2
0.060 GeneticVariation BEFREE Factor V leiden G1691A/R506Q (FVL), prothrombin G20210A (FII) and methylenetetrahydrofolate reductase (MTHFR) C677T are related genetic risk factors for venous thromboembolism. 22528331

2012

dbSNP: rs552953108
rs552953108
F2
0.060 GeneticVariation BEFREE In non-oral contraceptive users the risk of venous thromboembolism was significantly increased in carriers of R506Q but not in those with the G20210A mutation. 12069454

2002

dbSNP: rs1183194405
rs1183194405
F2
0.020 GeneticVariation BEFREE To investigate the possible role of factor XIII Val34Leu in the pathogenesis of venous thromboembolism (VTE) and potential interactions with factor V Leiden (FV:Q506) and prothrombin G --> A 20210, we studied 221 patients with a history of VTE and 254 healthy controls. 9920839

1999

dbSNP: rs1183194405
rs1183194405
F2
0.020 GeneticVariation BEFREE There was no interaction between the fibrinogen Aalpha-Thr312Ala and FXIII Val34Leu polymorphisms for the risk of VTE. 17568659

2007

dbSNP: rs387907201
rs387907201
F2
0.020 GeneticVariation BEFREE Two different prothrombin variants, p.Arg596Leu and p.Arg596Gln, conferring antithrombin resistance to patients with venous thromboembolism have been recently reported. 27013614

2016

dbSNP: rs387907201
rs387907201
F2
0.020 GeneticVariation BEFREE Prothrombin Arg596Gln mutation is a risk factor for Chinese patients with VTE due to its moderately decreased clotting activity but strong resistance to antithrombin inhibition. 29331940

2018

dbSNP: rs1183827513
rs1183827513
F2
0.010 GeneticVariation BEFREE New Prothrombin Mutation (Arg596Trp, Prothrombin Padua 2) Associated With Venous Thromboembolism. 27013614

2016

dbSNP: rs776445885
rs776445885
F2
0.010 GeneticVariation BEFREE The relationship between VTE and the VKORCI 1173C > T polymorphism was consistent with a recessive model. 17883698

2007

dbSNP: rs780225764
rs780225764
F2
0.010 GeneticVariation BEFREE FV A1090G, FV A1299G mutations, and PAI-1 gene polymorphisms may not be a risk factor for VTE in Turkish population. 21078611

2012