Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs899127658
rs899127658
F2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
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
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
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: rs899127658
rs899127658
F2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
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
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
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: rs899127658
rs899127658
F2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
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: rs899127658
rs899127658
F2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
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
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
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: rs899127658
rs899127658
F2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
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: rs899127658
rs899127658
F2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
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
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE The analyses were based on 375 Caucasian children screened at the Monster childhood thrombophilia centre with complete data for all prothrombotic risk factors (factor V G1691A, prothrombin G20210A, elevated lipoprotein (a), protein C-, protein S-, antithrombin-deficiency). 11686317

2001

dbSNP: rs899127658
rs899127658
F2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE The presence of three common point mutations seen in families with thrombophilia (1691G-->A in the coagulation factor V gene, 677C-->T in the methylenetetrahydrofolate reductase gene, and the 20210G-->A mutation in the prothrombin gene) could increase the risk for thrombosis in the child. 10822069

2000

dbSNP: rs899127658
rs899127658
F2
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE To evaluate the role of inherited thrombophilia in the development of central venous line (CVL)-related thrombosis, the following parameters were determined in 77 pediatric-oncologic patients with CVL: activated protein C (APC)-ratio, factor V (FV) G1691A and prothrombin G20210A mutation, protein C, protein S, antithrombin, coagulation factor XII, lipoprotein (a) and homocysteine. 10650856

1999