Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
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 )
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
- The data suggest that the noncoding variant rs1410996 of the CFH gene moderately increased the risk of exudative AMD in a Chinese population.
- Pubmed
- 19850835
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2010
Drugs