Annotation Detail
Information
- Associated Genes
- EPHX1
- Associated Variants
-
EPHX1 p.Tyr113His (p.Y113H)
(
ENST00000614058.4,
ENST00000272167.10,
ENST00000366837.5 )
EPHX1 p.Tyr113His (p.Y113H) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- This study suggests that a coding SNP in EPHX1 (Y113H) may be important in AMD and supports a previous observation of an association with exudative AMD.
- Pubmed
- 15774926
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00527694770136467
- Year of publication
- 2005
Drugs