Annotation Detail
Information
- Associated Genes
- CYP1B1
- Associated Variants
-
CYP1B1 MUTATION
CYP1B1 MUTATION
CYP1B1 p.Ala119Ser (p.A119S) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Ala119Ser (p.A119S) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 ) - Associated Disease
- Glaucoma, Primary Open Angle
- Source Database
- DisGeNET
- Description
- Moreover, one haplotype consisting of rs1056827 and rs100012 in CYP1B1 gene was significantly associated with a protective effect against POAG (p = 0.0045; OR = 0.3; 95% CI, 0.1-0.7).
- Pubmed
- 23206929
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.365700279313686
- Year of publication
- 2013
Drugs