Annotation Detail
Information
- Associated Genes
- ARMS2
- Associated Variants
-
ARMS2 p.Ala69Ser (p.A69S)
(
ENST00000528446.1 )
ENSG00000289697 c.2237-543G>A, CFH c.2237-543G>A ( ENST00000695984.1, ENST00000695981.1, ENST00000695971.1, ENST00000695969.1, ENST00000695974.1, ENST00000367429.9, ENST00000695970.1, ENST00000695976.1, ENST00000696028.1, ENST00000696027.1, ENST00000696029.1 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
ENSG00000289697 c.2237-543G>A, CFH c.2237-543G>A ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- Variants in CFH rs1410996, ARMS2/HTRA1 A69S, and C3 R102G were significantly associated with an increased risk of AMD.
- Pubmed
- 21906714
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.403743137904031
- Year of publication
- 2011
Drugs