Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR MUTATION
MTHFR MUTATION
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
Malignant neoplasm of breast
Source Database
DisGeNET
Description
Association of MTHFR Ala222Val (rs1801133) polymorphism and breast cancer susceptibility: An update meta-analysis based on 51 research studies.
Pubmed
23217001
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.100901024150183
Year of publication
2012
Drugs