Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801133
rs1801133
MTHFR
CUI: C0523631
Disease: Folic acid measurement
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
dbSNP: rs1801133
rs1801133
MTHFR
CUI: C0523631
Disease: Folic acid measurement
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