Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE Ancillary testing revealed inherited thrombophilia (Prothrombin 20,210 G > A and MTHFR 677 C > T mutation). 29299826

2018

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE IVF outcomes are not associated with FVL, PGM, MTHFR (C677T), MTHFR (A1298C), and APCR mutation in inherited thrombophilias. 27216921

2016

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE The important polymorphisms leading to inherited thrombophilia are Factor V Leiden (FVL), Prothrombin G20210A and MTHFR C677T and A1298C. 26135458

2016

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE Factor V Leiden G1691A, prothrombin G20210A, MTHFR C677T, and Factor XII C46T mutations are associated with the risk of developing thrombophilia. 22521752

2012

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE Gain-of-function variants of genes encoding coagulation factor V (F5 G1691A) and prothrombin (F2 G20210A) cause hypercoagulability and are established risk factors for venous thrombosis. 20626623

2010

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE No significant difference in the prevalence of three genetic mutations associated with the increased risk of thrombophilia (Factor V Leiden G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677 T) was found in 100 infertile women with unexplained infertility when compared with 200 control fertile women without an infertility history. 19939360

2010

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE The authors used polymerase chain reaction (PCR) measures for thrombophilia (FVL, PTG, C677T-A1298C methylenetetrahydrofolate reductase [MTHFR], platelet glycoprotein PLA1A2) and hypofibrinolysis (plasminogen activator inhibitor-1 4G4G). 18796459

2009

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE A literature review identified case-control and cohort studies evaluating the relationship between IUGR and the following thrombophilias: homozygous or heterozygous factor V Leiden or prothrombin (PT) G20210A mutations and homozygous methylenetetrahydrofolate reductase (MTHFR) C677T mutation. 19461414

2009

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE In a 12-member, 3-generation kindred with conjoint inheritance of G1691A factor V Leiden (FVL) and G20210A prothrombin gene (PTG) mutations, identified through a proband with amaurosis fugax and his father with nonarteritic ischemic optic neuropathy (NAION), the authors' hypothesis was that ocular thrombosis was a diagnostic window to familial thrombophilia-thrombosis. 18796459

2009

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE These polymorphisms confer a very mild hypercoagulable state as shown by the limited increased in basal D-dimers in mutated FV-G1691A populations and only a trend that does not reach statistical significance for FII-G20210A population. 19730248

2009

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE The aim of this study was to investigate whether risk factors for placental abruption because of such thrombophilias (such as carriership of factor V Leiden (FVL), prothrombin G20210A gene mutation and homozygous MTHFR C677T) might be used as a predictor for placental abruption. 17627684

2007

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE MTHFR C677T and hyperhomocysteinemia were more prevalent than other thrombophilias. 17688607

2007

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE Based on the hypothesis that an inherited predilection to hypercoagulability may predispose to HSP or may mark those who develop acute clinical manifestations, we evaluated the possible roles of methylenetetrahydrofolate reductase (MTHFR) gene C677T, factor V (FV) gene G1691A (Leiden), and prothrombin gene G20210A polymorphisms in patients with HSP. 16791607

2006

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE The main inherited thrombophilias (antithrombin deficiency, protein C and S deficiency, FVL, the prothrombin gene variant, and MTHFR C677T homozygotes) have a combined prevalence in Western European populations of 15% to 20%. 16962918

2006

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE Our aim was to study the prevalence and the role of the common genetic polymorphisms associated with thrombophilia such as factor V Leiden, prothrombin G20210A and methylene tetrahydrofolate reductase (MTHFR) C677T, in aseptic PCVT. 16839569

2006

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE Based on the hypothesis that an inherited predilection to hypercoagulability may predispose to HSP or may mark those who develop acute clinical manifestations, we evaluated the possible roles of methylenetetrahydrofolate reductase (MTHFR) gene C677T, factor V (FV) gene G1691A (Leiden), and prothrombin gene G20210A polymorphisms in patients with HSP. 16791607

2006

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE In order to estimate the frequency of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in Jordanian thrombotic patients, we studied 594 patients admitted to the King Hussein Medical Center for thrombophilia assessment. 16093732

2005

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE Single-nucleotide polymorphisms (SNPs) within the genes of factor V (FV) (G1691A; exon 10), prothrombin (FII) (G20210A; 3'untranslated - region) and methylenetetrahydrofolate reductase (MTHFR) (C677T; exon 4) are associated with hypercoagulability, and systematic screening of individuals being at higher risk of thrombosis has been suggested. 16305681

2005

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE Association of anticardiolipin antibody and C677T in methylenetetrahydrofolate reductase mutation in women with recurrent spontaneous abortions: a new path to thrombophilia? 15821810

2005

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE Thrombophilia was implicated in the development of pregnancy complications, including recurrent idiopathic pregnancy loss, and is aggravated in women who are carriers of factor V G1691A (FV Leiden) and prothrombin (PRT) G20210A single-nucleotide polymorphisms (SNPs). 16138341

2005

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE Single-nucleotide polymorphisms (SNPs) within the genes of factor V (FV) (G1691A; exon 10), prothrombin (FII) (G20210A; 3'untranslated - region) and methylenetetrahydrofolate reductase (MTHFR) (C677T; exon 4) are associated with hypercoagulability, and systematic screening of individuals being at higher risk of thrombosis has been suggested. 16305681

2005

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE The purpose of this study was to determine (1). whether the inherited thrombophilias (the factor V Leiden and prothrombin gene mutations and the methylenetetrahydrofolate reductase [C677T] polymorphism) are increased in women with "idiopathic" (normotensive) small-for-gestational-age pregnancies and/or in their babies and (2). whether fetal carriage of a thrombophilia is associated with abnormal umbilical Doppler studies. 12712097

2003

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE Thrombophilia due to mutations in genes encoding coagulation factor V (G1691A), prothrombin (G20210A), methylene-tetrahydrofolate reductase (C677T) and the presence of antiphospholipid antibodies was searched for. 12857558

2003

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE After confirming clinically suspected thromboembolism with suitable imaging methods, pediatric patients should be screened for common gene mutations (factor V G1691A, prothrombin G20210A and MTHFR C677T genotypes), rare genetic deficiencies (protein C, protein S, antithrombin, and plasminogen), and new candidates for genetic thrombophilia causing elevated levels of lipoprotein(a), and homocysteine, and probable genetic risk factors (elevations in fibrinogen, factor IX, and factor VIIIC, and decreases in factor XII). 12172465

2002

dbSNP: rs899127658
rs899127658
F2
0.100 GeneticVariation BEFREE After confirming clinically suspected thromboembolism with suitable imaging methods, pediatric patients should be screened for common gene mutations (factor V G1691A, prothrombin G20210A and MTHFR C677T genotypes), rare genetic deficiencies (protein C, protein S, antithrombin, and plasminogen), and new candidates for genetic thrombophilia causing elevated levels of lipoprotein(a), and homocysteine, and probable genetic risk factors (elevations in fibrinogen, factor IX, and factor VIIIC, and decreases in factor XII). 12172465

2002