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
Coronary heart disease
Source Database
DisGeNET
Description
The rs1801133 polymorphism of the MTHFR gene affects risk of coronary artery disease.
Pubmed
22440940
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.23885591379414
Year of publication
2012
Drugs