Annotation Detail
Information
- Associated Genes
- HTRA1
- Associated Variants
-
ARMS2 p.Ala69Ser (p.A69S)
(
ENST00000528446.1 )
HTRA1 c.-625G>A ( ENST00000648167.1 )
HTRA1 p.Gly36= (p.G36=) ( ENST00000648167.1, ENST00000368984.8 )
HTRA1 p.Gly36= (p.G36=) ( ENST00000648167.1, ENST00000368984.8 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
HTRA1 c.-625G>A ( ENST00000648167.1 )
HTRA1 p.Gly36= (p.G36=) ( ENST00000368984.8, ENST00000648167.1 )
HTRA1 p.Gly36= (p.G36=) ( ENST00000368984.8, ENST00000648167.1 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- The coding HTRA1 SNP rs2293870, not part of the significant haplotypes containing rs10490924 and rs11200638, showed as strong an association with increased susceptibility to neovascular AMD.
- Pubmed
- 18164066
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.266913741835053
- Year of publication
- 2008
Drugs