Annotation Detail
Information
- Associated Genes
- HTRA1
- Associated Variants
-
ARMS2 p.Arg3His (p.R3H)
(
ENST00000528446.1 )
HTRA1 SNV
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.Arg3His (p.R3H) ( ENST00000528446.1 )
HTRA1 SNV
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
- macular degeneration
- Source Database
- DisGeNET
- Description
- CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients.
- Pubmed
- 23534868
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00542883744160607
- Year of publication
- 2014
Drugs