Annotation Detail
Information
- Associated Genes
- CFH
- 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
- Drusen
- Source Database
- DisGeNET
- Description
- The typical phenotype of the complement factor H R1210C rare variant is associated with extensive drusen accumulation in the macula and throughout the fundus, as well as with a high risk for having advanced disease.
- Pubmed
- 25880396
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00434306995328485
- Year of publication
- 2015
Drugs