Annotation Detail
Information
- Associated Genes
- COL8A1
- Associated Variants
-
ENSG00000289697 c.3580+48C>T, CFH p.Arg1210Cys (p.R1210C)
(
ENST00000696028.1,
ENST00000696027.1,
ENST00000696029.1,
ENST00000695984.1,
ENST00000695981.1,
ENST00000695971.1,
ENST00000695974.1,
ENST00000367429.9,
ENST00000695970.1,
ENST00000695976.1 )
ENSG00000289697 c.3580+48C>T, CFH p.Arg1210Cys (p.R1210C) ( ENST00000367429.9, 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
- Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration.
- Pubmed
- 24498017
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs