Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000423400.7, ENST00000641820.1, ENST00000376583.7, ENST00000376585.6 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
Lack of association between methylenetetrahydrofolate reductase gene A1298C polymorphism and breast cancer susceptibility.
Pubmed
21052845
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0206295822781031
Year of publication
2011
Drugs