Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1188383936
rs1188383936
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0600433
Disease:
Activated Protein C Resistance
0.060 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
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0600433
Disease:
Activated Protein C Resistance
0.060 GeneticVariation BEFREE The difference of homocysteine, folate, vitamin B12, antithrombin III activity, protein C activity, free protein S activity, and activated protein C resistance were not statistically significant; and the number of subjects with MTHFR C677T, prothrombin G20210A, and factor V Leiden mutations were similar between the study groups. 25264994 2016
dbSNP: rs1188383936
rs1188383936
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0600433
Disease:
Activated Protein C Resistance
0.060 GeneticVariation BEFREE We detected methylenetetrahydrofolate reductase (MTHFR) A1298C, MTHFR C677T, factor V Leiden, PAI-1, mutant prothrombin G20210A, plasma homocysteine, antithrombin III, protein S and activated protein C resistance. 20868443 2010
dbSNP: rs1188383936
rs1188383936
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0600433
Disease:
Activated Protein C Resistance
0.060 GeneticVariation BEFREE The pooled OR (and 95% CI) were: protein C deficiency, 6.49 (2.96 to 14.27); protein S deficiency, 1.14 (0.34 to 3.80); AT deficiency, 1.02 (0.28 to 3.67); APCr, 1.34 (0.16 to 11.52); FV1691 GA, 1.22 (0.80 to 1.87); PT20210GA, 1.10 (0.51 to 2.34); MTHFR C677T, 1.70 (1.23 to 2.34); and total plasma homocysteine >95th centile, 1.36 (0.53 to 3.51). 15781933 2005
dbSNP: rs1188383936
rs1188383936
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0600433
Disease:
Activated Protein C Resistance
0.060 GeneticVariation BEFREE Over a 36-month period, 46 consecutive Mexican mestizos with a clinical marker associated with a primary hypercoagulable state were prospectively assessed by searching for the sticky platelet syndrome (SPS), the activated protein C resistance (aPCR) phenotype, coagulation protein C activity and antigen, coagulation protein S, antithrombin III, plasminogen, tissue-type plasminogen activator activity, plasminogen activator inhibitor activity, plasminogen activator inhibitor type 1, IgG and IgM isotypes of antiphospholipid antibodies, homocysteine levels, the factor V gene Leiden, Cambridge, Hong Kong, and Liverpool mutations, the 677 C-->T mutation in the 5,10-methylenetetrahydrofolatereductase (MTHFR), and the G20210A polymorphism in the 3'-untranslated region of the prothrombin gene. 15609280 2005
dbSNP: rs1188383936
rs1188383936
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0600433
Disease:
Activated Protein C Resistance
0.060 GeneticVariation BEFREE In addition, the activated protein C resistance phenotype, coagulation protein C activity and antigen, coagulation protein S, antithrombin III, plasminogen, tissue-type plasminogen activator activity, plasminogen activator inhibitor activity, plasminogen activator inhibitor type 1, IgG and IgM isotypes of anti-phospholipid antibodies, homocysteine levels, the factor V gene Leiden mutation, the 677 C->T mutation in the 5,10-methylen-tetrahydrofolate-reductase (MTHFR), and the G20210A polymorphism in the 3'-untranslated region of the prothrombin gene were studied. 12361206 2002