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
Cerebrovascular accident
Source Database
DisGeNET
Description
Methylenetetrahydrofolate reductase gene polymorphisms are associated with ischemic and hemorrhagic stroke: Dual effect of MTHFR polymorphisms C677T and A1298C.
Pubmed
17113927
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.257121971396833
Year of publication
2006
Drugs