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
Kidney Failure, Chronic
Source Database
DisGeNET
Description
MTHFR A1298C polymorphism is associated with cardiovascular risk in end stage renal disease in North Indians.
Pubmed
17899317
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0633333039380402
Year of publication
2008
Drugs