Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747418061
rs747418061
APC
0.020 GeneticVariation BEFREE Resistance to activated protein C (APC resistance) due to the factor V mutation 506 Arg-->Gln (factor V Leiden) is the most prevalent inherited risk factor for venous thromboembolism. 8589213

1995

dbSNP: rs6025
rs6025
F5
0.900 GeneticVariation BEFREE The risk of recurrent venous thromboembolism in patients with an Arg506-->Gln mutation in the gene for factor V (factor V Leiden). 9010145

1997

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE We conclude that screening for the C677T mutation of the methylenetetrahydrofolate reductase gene should not be recommended in unselected patients with VT. 9217179

1997

dbSNP: rs6025
rs6025
F5
0.900 GeneticVariation BEFREE A single factor V gene G-A mutation (Arg506Gln) underlying activated protein C (APC) resistance is a common risk factor for venous thromboembolism. 9705241

1998

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: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Heterozygous and homozygous factor V G1691A, factor II G20210A, and homozygous MTHFR C677T were found to be independent risk factors for VTE, with odds ratios of 16.3, 3.6, and 2.1, respectively. 10073951

1999

dbSNP: rs1800562
rs1800562
0.010 GeneticVariation BEFREE Risk of venous thromboembolism associated with the common hereditary haemochromatosis Hfe gene (C282Y) mutation. 10233369

1999

dbSNP: rs751377893
rs751377893
F5
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: 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: 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: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE To clarify the contribution of C677T MTHFR mutation in arterial occlusive disease (AOD) or venous thromboembolism (VTE), we performed a case-controlled study including 160 cases with AOD and 180 cases with VTE attending our referral center and compared them with 200 matched healthy controls. 10477457

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: 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: rs1217691063
rs1217691063
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: 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: rs1805087
rs1805087
MTR
0.010 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 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: rs1217691063
rs1217691063
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 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: 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: rs1217691063
rs1217691063
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: 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: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Fasting total homocysteine (tHcy) and the methylenetetrahydrofolate reductase (MTHFR) C677T mutation were evaluated in 91 patients with venous thromboembolism and without acquired thrombophilia, and in 91 age-matched and sex-matched controls. 11943942

2002

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