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 In infants with atypical PVHI mutation analysis of the factor V Leiden (G1691A), prothrombin (G20210A) gene, and C677T and A1298C polymorphisms in the MTHFR gene was performed, and plasma lipoprotein(a) and homocysteine levels were measured. 22098125

2012

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Factor V Leiden (G1691A), the prothrombin 3'-untranslated region variant (G20210A) and thermolabile methylenetetrahydrofolate reductase (C677T): a single genetic test genotypes all three loci--determination of frequencies in the S. Wales population of the UK. 9609227

1998

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE We report the case of a male newborn with left RVT and associated homozygosity for both factor V Leiden (G1691A) and methylenetetrahydrofolate reductase C677T mutations in addition to elevated serum lipoprotein (a).The patient was treated with heparin. 19542880

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Newborn screening cards of 883 Caucasian babies born in South Australia in 1986-1999 were de-identified and tested for the following inherited thrombophilic polymorphisms: factor V Leiden (G1691A), prothrombin gene mutation (G20210A), methylenetetrahydrofolate reductase gene (MTHFR) C677T and A1298C, as well as compound heterozygosity for the MTHFR polymorphisms. 16028846

2005

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Molecular analysis for thrombophilic polymorphisms documented prothrombin G20210A mutation in 3/27 (11%), homozygosity for MTHFR C677T mutation in 5/27 (18.5%, and heterozygosity for factor V Leiden mutation in 5/27 (18.5%) children. 11505079

2001

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
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: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE The Prevalence of Factor V Leiden (G1691A) and Methylenetetrahydrofolate Reductase C677T Mutations in Sickle Cell Disease in Western India. 23869056

2015

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE We studied 24 patients with homocystinuria caused by homozygous CBS deficiency from 18 unrelated kindreds for FVL and for the 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and investigated their possible interaction in the risk of venous thrombosis. 9490685

1998

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
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: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor V HR2 haplotype), factor VII Arg353Gln, factor XIII Val34Leu, beta-fibrinogen -455G>A, prothrombin 20210G>A], coagulation inhibitors [tissue factor pathway inhibitor 536C>T, thrombomodulin 127G>A], fibrinolytic factors [angiotensin converting enzyme intron 16 insertion/deletion, factor VII-activating protease 1601G>A (FSAP Marburg I), plasminogen activator inhibitor 1-675 insertion/deletion (5G/4G), tissue plasminogen activator intron h deletion/insertion], and other factors implicated in influencing susceptibility to thromboembolic diseases [apolipoprotein E2/E3/E4, glycoprotein Ia 807C>T, methylenetetrahydrofolate reductase 677C>T] were included. 17003923

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE To investigate the potential perinatal effects of Factor V Leiden mutation and 5,10 methylenetetrahydrofolate reductase C677T polymorphism in preeclamptic women. 10877984

2000

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Three common polymorphic variants, namely Factor V Leiden (FVL), Prothrombin G20210A (PT G20210A) and Methylenetetrahydrofolate Reductase (MTHFR) C677T are candidate genes for venous thromboembolism (VTE) in pregnancy. 26115054

2015

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Antiphospholipid antibodies, factor V Leiden (FVL) mutation, prothrombin mutation G20210A (PTHRA20210) and mutation TT677 of methylenetetrahydrofolate reductase (MTHFR C677T) were evaluated in all patients. 12170404

2002

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE The homozygosity of 4G in PAI-1 and MTHFR C677T genes in women with RPL, and heterozygosity of FVL, FVR2, ACE, and ApoE2 genes in both parents play crucial role in RPL and should be considered as a risk factor in RPL. 22047507

2012

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE Homozygous mutations of the MTHFR gene (C677T) were found in six, factor-V Leiden mutation (homo- or heterozygous G1691A) in seven, and prothrombin mutation (20210A) in one patient (group 1). 14688517

2003

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE The frequency of the thrombophilic genetic variants factor V Leiden (FVL) G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T in acutely symptomatic ambulatory patients with idiopathic pulmonary embolism (PE) has not been measured. 16574759

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE While factor V Leiden mutation was more common in women with pregnancy loss (25% vs. 7.6%), factor II G20210A and homozygosity for MTHFR C677T contributed to pregnancy loss only in the presence of other thrombophilia. 11821094

2002

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE We determined if the presence of the factor V gene G1691A mutation (factor V Leiden), the prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism may be risk factors for vascular complications in individuals with SCD. 16906320

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE The contribution of mutations in the prothrombin (FII G20210A), methylenetetrahydrofolate reductase (C677T) genes and factor V Leiden (FVL) to the pathogenesis of arterial thrombosis remains controversial. 16651869

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE The odds ratio for stroke was not significantly increased in carriers of the prothrombin mutation (OR 1.2; 95% CI 0.1-10.7), FVL (OR 2.5; 95% CI 0.5-13.5), or the C677T mutation (OR 1.7; 95% CI 0.6-4.5). 10365738

1999

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
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: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE The prevalence of G1691A Factor V Leiden mutation (odds ratio [OR]=0.64; 95% confidence interval [CI]: 0.04-10.5), G20210A Factor II mutation (OR=0.63; 95% CI: 0.12-3.28) and C677T MTHFR homozygous polymorphism (OR=1.13; 95% CI: 0.47-2.72) did not differ significantly among patients with or without ST. 22665071

2012

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE No significant increased risk for venous thrombosis was found when MTHFR 1298 A --> C was coinherited with FVL (OR 2.85, 95% CI 0.88-9.23), FII 20210 G --> A (OR 7.19, 95% CI 0.87-59.4) or MTHFR 677 C --> T (OR 1.44, 95% CI 0.71-2.92). 10233437

1999

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE This pilot study examined Factor V Leiden (R506Q), prothrombin (20210G-->A), thrombomodulin (A455V) and MTHFR (677C-->T) in 100 Zulu-speaking black South African women with placental abruption and 217 controls. 12066950

2002

dbSNP: rs1217691063
rs1217691063
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.100 GeneticVariation BEFREE We analysed the prevalence of the most common hereditary thrombophilia (hTP) - factor V Leiden (FVL) mutation, prothrombin 20210 G>A substitution (PT) - and the 677 C>T replacement in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Caucasian patients with a history of two and more consecutive recurrent miscarriages (RMs) as compared to healthy controls with an identical ethnic background and at least one live birth. 23795816

2013