Annotation Detail
Information
- Associated Genes
- CYP1B1
- Associated Variants
-
CYP1B1 p.Val432= (p.V432=)
(
ENST00000490576.2,
ENST00000494864.1,
ENST00000610745.5,
ENST00000614273.1,
ENST00000714520.1 )
CYP1B1 p.Leu432Val (p.L432V) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 ) - Associated Disease
- Glaucoma, Primary Open Angle
- Source Database
- DisGeNET
- Description
- Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma.
- Pubmed
- 18483560
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.365700279313686
- Year of publication
- 2008
Drugs