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
Ischemic stroke
Source Database
DisGeNET
Description
In addition, MTHFR rs1801133 also was associated with cerebral hemorrhage (OR = 1.48; 95%CI, 1.16 to 1.89; P = 0.001) but not with ischemic stroke (OR = 1.08; 95%CI, 0.96 to 1.22; P = 0.210).
Pubmed
25144711
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0292074397061496
Year of publication
2014
Drugs