Annotation Detail
Information
- Associated Genes
- HTRA1
- Associated Variants
-
HTRA1 c.-625G>A
(
ENST00000648167.1 )
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I) ( ENST00000695968.1, ENST00000696030.1, ENST00000696028.1, ENST00000630130.2, ENST00000696023.1, ENST00000696029.1, ENST00000695978.1, ENST00000695987.1, ENST00000696027.1, ENST00000695981.1, ENST00000359637.3, ENST00000695984.1, ENST00000695970.1, ENST00000367429.9, ENST00000695976.1, ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695979.1 )
SKIC2 c.1212-29G>A ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
HTRA1 c.-625G>A ( ENST00000648167.1 )
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I) ( 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 )
SKIC2 c.1212-29G>A ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH rs800292 and HTRA1 rs11200638.
- Pubmed
- 23260260
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.266913741835053
- Year of publication
- 2013
Drugs