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 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: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE The C677T mutation of the methylenetetrahydrofolate reductase gene, which may lead to hyperhomocysteinemia, is also considered a risk factor for VTE in some studies. 17401546

2007

dbSNP: rs1188383936
rs1188383936
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: rs1188383936
rs1188383936
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 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 Factor V G1691A (Leiden), prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T mutations are considered risk factors for venous thromboembolism. 15886665

2005

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE Single point mutations in the genes coding for factor V [G1691A; Leiden], prothrombin [PRT; G20210A], and methylenetetrahydrofolate reductase [MTHFR, C677T] were shown to be major inherited predisposing factors for venous thromboembolism. 15353918

2004

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE Single point mutations in the genes coding for factor V [G1691A; Leiden], prothrombin [PRT; G20210A], and methylenetetrahydrofolate reductase [MTHFR, C677T] were shown to be major inherited predisposing factors for venous thromboembolism. 15353918

2004

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE No associations between VTE and MTHFR polymorphisms (C677T, A1298C) were found. 12570104

2003

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE Factor V Leiden, prothrombin 20210G --> A, methylenetetrahydrofolate reductase 677C --> T and plasminogen activator inhibitor 4G/5G polymorphism in women with pregnancy-related venous thromboembolism. 14597244

2003

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE Prothrombin 20210 G-->A, MTHFR C677T mutations in women with venous thromboembolism associated with pregnancy. 10759281

2000

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE The frequencies of Factor V G1691A (FVL), prothrombin (PT) G20210A, 5'10'methylenetetrahydrofolate reductase (MTHFR) C677T, and methionine synthase (MS) A2756G (four mutations associated with an increased risk of venous thromboembolism [VTE]) were determined in a sample of approximately 1500 New York State residents. 10963782

2000

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE This study suggests that the homozygous C677T mutation in the MTHFR gene might be a risk factor of VTE in patients with spontaneous events and without other common genetic risk factors. 11124649

2000

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE Genotyping for mutations that are possible causes of moderate hyperhomocysteinemia, such as the thermolabile variant (C677T) of methylenetetrahydrofolate reductase (MTHFR), does not seem useful to identify individuals at higher risk for venous thromboembolism. 11011848

2000

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE The frequencies of Factor V G1691A (FVL), prothrombin (PT) G20210A, 5'10'methylenetetrahydrofolate reductase (MTHFR) C677T, and methionine synthase (MS) A2756G (four mutations associated with an increased risk of venous thromboembolism [VTE]) were determined in a sample of approximately 1500 New York State residents. 10963782

2000

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 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 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 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 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: 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 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