Annotation Detail
Information
- Associated Genes
- EPHX1
- Associated Variants
-
EPHX1 p.His139Arg (p.H139R)
(
ENST00000272167.10,
ENST00000366837.5,
ENST00000614058.4 )
EPHX1 p.His139Leu (p.H139L) ( ENST00000614058.4, ENST00000366837.5, ENST00000272167.10 )
EPHX1 p.His139Arg (p.H139R) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Leu (p.H139L) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 ) - Associated Disease
- Brain Neoplasms
- Source Database
- DisGeNET
- Description
- We found positive interaction odds ratios (ORs) for both maternal and paternal smoking during pregnancy, EPHX1 H139R, and childhood brain tumors (P(interaction) = 0.02; 0.10), such that children with the high-risk (greater PAH activation) genotype were at a higher risk of brain tumors relative to children with the low-risk genotype when exposed to tobacco smoke during pregnancy.
- Pubmed
- 24260161
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs