Annotation Detail

Information
Associated Genes
EPHX1
Associated Variants
EPHX1 p.Tyr113His (p.Y113H) ( ENST00000614058.4, ENST00000272167.10, ENST00000366837.5 )
EPHX1 p.His139Arg (p.H139R) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Leu (p.H139L) ( ENST00000614058.4, ENST00000366837.5, ENST00000272167.10 )
EPHX1 p.Tyr113His (p.Y113H) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Arg (p.H139R) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Leu (p.H139L) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
Associated Disease
colorectal cancer
Source Database
DisGeNET
Description
We investigated the risk of colorectal cancer in relation to the EPHX1 Y113H and H139R polymorphisms and assessed effect modifications of cigarette smoking and the other covariates.
Pubmed
22415791
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0326715088263885
Year of publication
2013
Drugs