Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
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: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
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: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0600433
Disease:
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
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0600433
Disease:
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
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
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: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0600433
Disease:
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
dbSNP: rs397507444
rs397507444
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0600433
Disease:
Activated Protein C Resistance
0.010 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: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0600433
Disease:
Activated Protein C Resistance
0.010 GeneticVariation BEFREE To assess whether certain abnormalities of the sulfated amino acid metabolism are associated with the occurrence of thromboembolic events in patients with inherited thrombophilic conditions, the levels of homocyst(e)ine, before or after methionine load, and the presence of the Ala223Val substitution in the 5,10-methylenetetrahydrofolate reductase (MTHFR) were evaluated in 119 subjects with a congenital single thrombophilic condition (type I deficiency of antithrombin n = 10, protein C n = 24, protein S n = 16; activated protein C resistance due to factor V Leiden mutation n = 69). 9409277 1997