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
colorectal cancer
Source Database
DisGeNET
Description
The 677C>T (rs1801133) polymorphism in the MTHFR gene contributes to colorectal cancer risk: a meta-analysis based on 71 research studies.
Pubmed
23437053
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.10687274533595
Year of publication
2013
Drugs