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
Malignant neoplasm of breast
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
0.100901024150183
Year of publication
2011
Drugs