Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE 102 patients with two or more consecutive abortions and 128 women without miscarriage were analyzed for factor V Leiden mutation (FVL), prothrombin G20210A mutation (PTM), C677T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, glycoprotein IIIa (GPIIIa) C1565T polymorphism, and beta-fibrinogen G-455A polymorphism by polymerase chain reaction (PCR) techniques. 11506076

2001

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Further, in contrast to reports from other investigators, we found little evidence for association of a C677T polymorphism in the 5,10-methylenetetrahydrofolate reductase gene, the angiotensin-I-converting enzyme 1 insertion/deletion polymorphism, a 4G/5G polymorphism in the serine/cysteine proteinase inhibitor-clade E-member 1 gene, the factor V Leiden mutation, the G20210A factor II mutation, a -455G>A polymorphism in the beta-fibrinogen gene, the cys112arg/arg158cys apolipoprotein E gene polymorphism, a gly460trp polymorphism in the alpha-adducin gene, and a -629C>A polymorphism in the cholesteryl ester transfer protein gene with risk of MI. 16420563

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Plasma homocysteine, vitamin B12, folate, creatinine, and protein C levels were measured in all study subjects upon enrollment, and genotyping for the C677T and A1298C polymorphisisms of the methylenetetrahydrofolate reductase (MTHFR) gene and for factor V Leiden (FVL) mutations was performed as well. 20935614

2010

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE The -675 4G/5G PAI-1 allele distribution differed significantly between patients and controls (P = 0.020), but no difference was found regarding the distribution of -844 G/A PAI-1 (P = 0.493), FVL (P = 0.199), FIIG20210A (P = 0.410), FXIII-AVal34leu (P = 0.160) and C677T MTHFR (P = 0.788). 25699610

2015

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE MTHFR C677T Polymorphism and factor V Leiden mutation are not associated with recurrent spontaneous abortion of unexplained etiology in Japanese women. 16052395

2005

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Our study revealed mutations in hemophilia patients as follows: prothrombin G20210A (3 %), FVL (14 %), MTHFR C677T (42 %), and A1298C (59 %). 26891731

2016

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE The adjusted OR for VTE was 7.10 (95% CI: 2.33-21.61) in women with factor V Leiden (G1691A) mutation, 2.83 (95% CI: 0.70-11.63) in women with prothrombin G20210A mutation and 0.26 (95% CI: 0.10-0.65) in women with the MTHFR C677T mutation. 15208046

2004

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE To analyze the prevalence of factor V Leiden (G1691A), prothrombin (G20210A), and methylenetetrahydrofolate reductase (C677T) mutations in children with CP. 16382706

2005

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE The genetic predispositions to venous thrombosis such as factor V Leiden (FVL) mutation (Arg 506 Gln), prothrombin (FII) gene mutation (G20210A), and mutation of the methylenetetrahydrofolate reductase (MTHFR) gene (C677T) have been reported to be associated with recurrent pregnancy loss. 12042290

2002

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Patients with beta-TM have insignificantly higher frequencies of mutant A allele in factor V Leiden G1691A (11.5 vs. 10.5%), mutant T allele in MTHFR C677T (21.5 vs. 21%) and mutant A allele in prothrombin G20210A (3 vs. 2.5%) than controls. 19710606

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE The major genetic risk factor in our series of patients was homozygosity for the MTHFR C677T mutation (7 out of 48 patients); three more patients were found to be heterozygous for the Factor V Leiden mutation. 19432826

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE The MTHFR C677T polymorphism has a very high prevalence compared with the low prevalence of anticoagulant protein deficiency and factor V Leiden mutation in Mexicans. 26825628

2016

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Nine hundred and two DNA samples of consenting healthy Saudi individuals were tested for factor V Leiden (FVL), prothrombin (PT) 20210 G>A, 5-10 methylenetetrahydrofolate reductase (MTHFR) 677 C>T, the 4G/5G polymorphism of Plasminogen activator inhibitor type 1 (PAI-1 4G/5G), and factor V HR2 (FVHR2) haplotype. 19838435

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE We investigated the prevalence of both the C677T MTHFR mutation and the factor V Leiden mutation in 81 patients with transient ischemic attack (TIA) or minor stroke (MS) and in 81 age- and sex-matched control subjects free from clinically manifest vascular disease. 9950259

1999

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Patients and control subjects were tested for antithrombin protein C and protein S deficiencies, the presence of antiphospholipid antibodies (APLA), factor V Leiden (FVL), G20210A polymorphism of factor II gene (FII G20210A), and C677T polymorphism of 5,10-methylenetetrahydrofolate reductase gene (C677T MTHFR). 10835445

2000

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Ethnic differences in the association of factor V Leiden mutation and the C677T methylenetetrahydrofolate reductase gene polymorphism with preeclampsia. 14746952

2004

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE This is a first report of the concordance of homozygous MTHFR C677T mutation in an individual with factor V Leiden mutation. 8840466

1996

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE The Factor V Leiden mutation (G1691A), and mutations in the prothrombin (G20210A) and 5,10-methylenetetrahydrofolate reductase (C677T) genes are common hereditary risk factors associated with venous thrombosis. 12490067

2002

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE To investigate whether the factor V Leiden mutation (FVL), the prothrombin gene G20210A variant or the methylenetetrahydrofolate reductase (MTHFR) C677T genotype are risk factors for central nervous system (CNS) thrombosis or intraventricular hemorrhage (IVH) in neonates. 12477269

2002

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
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: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Here we carried out an investigation of the most common inherited risk factors for hypercoagulability including the mutation in the factor V gene (factor V Leiden), the transition 20.210G-->A in the prothrombin gene, and also the homozygosity for the 677C-->T transition in the methylenetetrahydrofolate reductase gene (MTHFR). 9890294

1999

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE The presence of a variant allele for the 677C --> T MTHFR polymorphism strengthened the association between FVL and stillbirth (OR 3.34, 95%CI 1.95-5.73) (p(interaction) = 0.034). 16613994

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE From 2008 to 2017, all 26 consecutive newborn infants ≥35 weeks of gestation diagnosed with neonatal CSVT, and their mothers, were tested for factor V Leiden (FV) G1691A, FII G20210A, and methylenetetrahydrofolate reductase C677T (MTHFR C677T) mutations. 31025572

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Although a clear association has been established between fetal loss and certain thrombophilic states, such as antiphospholipid antibody syndromes, antithrombin deficiency, and combined defects, reports on the prevalence of inherited prothrombotic defects such as factor V Leiden mutation and methylene tetrahydrofolate reductase C677T polymorphism in fetal loss are contradictory. 18160599

2008

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE In the present study, we have focused on the prevalence of methylenetetrahydrofolate reductase (MTHFR) C677T, dihydrofolate reductase (DHFR) 19-bp deletion within intron 1, factor V Leiden (FVL), and prothrombin (PT) G20210A polymorphisms in cancer patients with and without VTE. 18682947

2009