Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
CUI: C0600433
Disease: Activated Protein C Resistance
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: rs1217691063
rs1217691063
CUI: C0600433
Disease: Activated Protein C Resistance
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: rs1217691063
rs1217691063
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.060 GeneticVariation BEFREE Fasting total homocysteine, protein C (PC), protein S (PS), antithrombin (AT), activated protein C resistance (APCR) and lupus anticoagulant (LA) were assessed.MTHFR C677T mutation was determined. 19940469

2010

dbSNP: rs1217691063
rs1217691063
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.060 GeneticVariation BEFREE In addition, abnormal activated protein C resistance (or Factor V Leiden), Factor II G20219A variant, and the thermolabile variant of methylenetetrahydrofolate reductase (MTHFR C677T) need to be considered. 19432826

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0600433
Disease: Activated Protein C Resistance
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: rs1217691063
rs1217691063
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.060 GeneticVariation BEFREE Determinations in blood samples of homocysteine concentrations; the occurrence of 677 C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene; protein C activities; activated protein C resistance ratios; concentrations of free protein S antigen; antithrombin III activities; and the occurrence of factor V Leiden mutation. 10847236

2000