Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR MUTATION
MTHFR MUTATION
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
Associated Disease
obesity
Source Database
DisGeNET
Description
C677t polymorphism of MTHFR and G80A polymorphism of RFC genes and their relation with homocysteine levels in obese Tunisian children.
Pubmed
21681722
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.029294654229586
Year of publication
2011
Drugs