Annotation Detail
Information
- Associated Genes
- MMP2
- Associated Variants
-
rs1799750
rs1799750
rs243866 ( ENST00000570308.5 )
MMP2 c.-1586C>T ( ENST00000570308.5 )
MMP9 p.Gln279Arg (p.Q279R) ( ENST00000372330.3 )
rs243866 ( ENST00000570308.5 )
MMP2 c.-1586C>T ( ENST00000570308.5 )
MMP9 p.Gln279Arg (p.Q279R) ( ENST00000372330.3 ) - Associated Disease
- Glaucoma, Open-Angle
- Source Database
- DisGeNET
- Description
- Functional gene polymorphisms of these MMPs such as MMP1 -1607 1G/2G (rs1799750), MMP2 -1306 C/T (rs243865), MMP2 -1575 G/A (rs243866), and MMP9 Q279R (rs17576) are thus plausible candidates as risk factors for open angle glaucomas.
- Pubmed
- 20808730
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2010
Drugs