Annotation Detail
Information
- Associated Genes
- HTRA1
- Associated Variants
-
ARMS2 p.Ala69Ser (p.A69S)
(
ENST00000528446.1 )
HTRA1 c.-625G>A ( ENST00000648167.1 )
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y) ( ENST00000695981.1, ENST00000695984.1, ENST00000359637.3, ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000695979.1, ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695968.1, ENST00000696030.1, ENST00000696028.1, ENST00000695987.1, ENST00000695978.1, ENST00000696029.1, ENST00000696023.1, ENST00000630130.2, ENST00000696027.1 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
HTRA1 c.-625G>A ( ENST00000648167.1 )
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y) ( ENST00000359637.3, ENST00000367429.9, ENST00000630130.2, ENST00000695968.1, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695978.1, ENST00000695979.1, ENST00000695981.1, ENST00000695984.1, ENST00000695987.1, ENST00000696023.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1, ENST00000696030.1 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- We genotyped three SNPs, rs1061170 (exon 9, CFH), rs11200638 (HTRA1 promoter, -512 bp), and rs10490924 (6.6 kb upstream of HTRA1 in LOC387715/ARMS2) in 333 cases with advanced AMD (choroidal neovascularization [CNV] and geographic atrophy) and 171 age-matched examined controls.
- Pubmed
- 18682806
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.266913741835053
- Year of publication
- 2008
Drugs