Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
CFH MUTATION
CFH MUTATION
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
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 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
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 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- The presence or absence of RPD was studied among 408 patients with exudative AMD in at least one eye, and the clinical characteristics of those with RPD were investigated as well as genetic polymorphisms of ARMS2 A69S (rs10490924) and CFH I62V (rs800292).
- Pubmed
- 24595987
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2014
Drugs