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 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 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 Factor V Leiden G1691A, prothrombin G20210A, MTHFR C677T, and Factor XII C46T mutations are associated with the risk of developing thrombophilia. 22521752

2012

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: 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 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: 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 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: 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: 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: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE The relative risks (odds ratio, OR) of various risk factors for venous thrombophilia, including sex, antithrombin III, protein C (PC), protein S (PS) and plasminogen deficiencies, and C677T homozygous mutation of methylenetetrahydrofolate reductase gene were assessed using age matched (+/-5 years) conditional logistic regression analysis in 116 Chinese venous thrombophilic patients (58 males; 58 females; mean age 47.5+/-17.7 [SD] years) and 125 healthy controls (67 males; 58 females; mean age 45.5+/-15.7 years). 10973672

2000

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE Over 50 unselected women with maternal venous thromboembolism were screened for the prothrombin 20210 G-->A and MTHFR C677T mutations, in addition to screening for other thrombophilias. 10759281

2000

dbSNP: rs1188383936
rs1188383936
F2
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