Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 c.1337-3410A>C, CFH c.1337-3410A>C
(
ENST00000695981.1,
ENST00000695984.1,
ENST00000367429.9,
ENST00000695970.1,
ENST00000695976.1,
ENST00000695974.1,
ENST00000695969.1,
ENST00000695971.1,
ENST00000696028.1,
ENST00000696029.1,
ENST00000696027.1 )
ENSG00000289697 c.1337-3410A>C, CFH c.1337-3410A>C ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 ) - Associated Disease
- Exudative age-related macular degeneration
- Source Database
- DisGeNET
- Description
- New loci and coding variants confer risk for age-related macular degeneration in East Asians.
- Pubmed
- 25629512
- Original source reporting the Gene Disease association
- GWASCAT
- DisGENET score for the Gene Disease association
- 0.130586233011132
- Year of publication
- 2014
Drugs