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 Risk factors reviewed include myeloproliferative neoplasms (MPNs) and their related gene mutations, anti-phospholipid syndrome, paroxysmal nocturnal haemoglobinuria (PNH), hyperhomocysteinaemia and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T mutation, factor V Leiden (FVL) and prothrombin G20210A mutations, inherited anti-thrombin, protein C and protein S deficiencies, pregnancy and puerperium, poverty, and family history. 27734511

2016

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE All participants had a thrombotic workup that included the following: genetic markers: factor V Leiden G1691A and G20210A prothrombin mutations, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms; protein assays: protein C, protein S and antithrombin; other tests: blood typing and screening for hyperhomocysteinemia. 23337711

2013

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE Out of three homozygous cases for C677T MTHFR polymorphism, two of these patients had hy</span>perhomocysteinemia. 23337710

2013

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE Prothrombin G20210A and factor V-Leiden heterozygosity, and MTHFR C677T homozygosity with hyperhomocysteinemia</span> were confirmed. 18360788

2008

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE The C677T mutation of the methylenetetrahydrofolate reductase gene, which may lead to hyperhomocysteinemia, is also considered a risk factor for VTE in some studies. 17401546

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 APS, revealed by anti-beta-2-glycoprotein and anti-prothrombin antibodies positivity, and moderate HHcy related to heterozygous C677T and A1298C point mutations of the MTHFR gene were identified as a possible cause of thrombotic disorder responsible for the widespread presence of cutaneous and cerebral lesions. 16595601

2006

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE These include a group of mostly autosomal dominant, inherited gene mutations leading to a hypercoagulable state, such as factor V Leiden G1691A, factor II or prothrombin G20210A, and hyperhomocysteinemia associated with methylenetetrahydrofolate reductase C677T mutation. 16418978

2006

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE The C677T mutation of the methylenetetrahydrofolate reductase gene may induce hyperhomocysteinemia and could slightly increase the risk of arterial or venous thrombosis and pregnancy loss in individuals with folic acid deficiency. 16185908

2006

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE While results from this study clearly demonstrate a strong association of hyperhomocysteinemia and homozygosity of the MTHFR C677T, but not FV-Leiden or PRT G20210A, mutations with confirmed CAD, they also suggest a potential role for factor V-Leiden in MTHFR C677T carriers. 15353918

2004

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE Genotyping for mutations that are possible causes of moderate hyperhomocysteinemia, such as the thermolabile variant (C677T) of methylenetetrahydrofolate reductase (MTHFR), does not seem useful to identify individuals at higher risk for venous thromboembolism. 11011848

2000

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE The C677T mutation in the MTHFR gene has recently been described as a cause of mild hyperhomocysteinemia. 11124649

2000

dbSNP: rs1188383936
rs1188383936
F2
0.100 GeneticVariation BEFREE We calculated the prevalences of prothrombin G20210A, factor V G1691A (also associated with high risk for DVT) and homozygous methylenetetrahydrofolate reductase (MTHFR) C677T (associated with increased susceptibility to develop hyperhomocysteinemia) in 118 patients with a first episode of DVT and in 416 healthy controls. 10065893

1999