Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR p.Ala263Val (p.A263V) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
Associated Disease
myocardial infarction
Source Database
DisGeNET
Description
The rs1801133 polymorphism of methylenetetrahydrofolate reductase gene- the association with 5-year survival in patients with ST-elevation myocardial infarction.
Pubmed
22440940
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0692053360352962
Year of publication
2012
Drugs