rs1801133, MTHFR

N. diseases: 174
Disease: Folic acid measurement ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Folic acid measurement
CUI: C0523631
Disease: Folic acid measurement
0.700 GeneticVariation GWASCAT We validated that rs1801133 in MTHFR was significantly involved in serum folate (P = 4.21 × 10<sup>-19</sup>). 29953918 2018
Folic acid measurement
CUI: C0523631
Disease: Folic acid measurement
0.700 GeneticVariation GWASCAT The 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T (rs1801133) variant was the major genetic modifier of all 3 folate-related biomarkers in this Irish population and reached genome-wide significance for red blood cell folate (P = 1.37 × 10-17), serum folate (P = 2.82 × 10-11), and plasma total homocysteine (P = 1.26 × 10-19) concentrations. 30339177 2018