Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507444
rs397507444
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.050 GeneticVariation BEFREE Polymorphism of MTHFR (677C > T and 1298A > C), PAI1 (-675 5G/4G and -844A > G), and F2 (20210G > A), and the F5 Leiden mutation, as well as biochemical parameters for hypercoagulability, were analysed. 31389788

2019

dbSNP: rs397507444
rs397507444
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.050 GeneticVariation BEFREE The laboratory tests revealed high D-dimers, and positive IgG anti-cardiolipin and anti-beta2 glycoproteins I antibodies, whereas the genetic profile for thrombophilia revealed heterozygote mutation in MTHFR C677T and A1298C genes. 31725629

2019

dbSNP: rs397507444
rs397507444
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.050 GeneticVariation BEFREE The important polymorphisms leading to inherited thrombophilia are Factor V Leiden (FVL), Prothrombin G20210A and MTHFR C677T and A1298C. 26135458

2016

dbSNP: rs397507444
rs397507444
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.050 GeneticVariation BEFREE Placenta slides of 65 IUFDs with known maternal thrombophilia test results (compound MTHFR C677T and A1298C heterozygosity, n = 10; MTHFR 677TT homozygosity, n = 3; protein S deficiency, n = 0; factor V Leiden mutation, n = 2; prothrombin gene mutation G20210A, n = 1; lupus anticoagulant, n = 2; antiphospholipid syndrome, n = 1; MTHFR C677T heterozygosity, n = 5; MTHFR A1298C heterozygosity, n = 4; and MTHFR 1298CC homozygosity, n = 2) and of 30 livebirths with positive maternal thrombophilia test results (n = 5, 2, 0, 9, 2, 0, 2, 7, 2 and 1, respectively, for those thrombophilias) were microscopically examined for septation, fetal vessel thrombosis, intimal fibrin cushions, avascular villi, haemorrhagic endovasculitis and fibromuscular sclerosis. 22173239

2012

dbSNP: rs397507444
rs397507444
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.050 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