Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y)
(
ENST00000695981.1,
ENST00000695984.1,
ENST00000359637.3,
ENST00000695976.1,
ENST00000367429.9,
ENST00000695970.1,
ENST00000695979.1,
ENST00000695969.1,
ENST00000695974.1,
ENST00000695971.1,
ENST00000695968.1,
ENST00000696030.1,
ENST00000696028.1,
ENST00000695987.1,
ENST00000695978.1,
ENST00000696029.1,
ENST00000696023.1,
ENST00000630130.2,
ENST00000696027.1 )
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y) ( ENST00000359637.3, ENST00000367429.9, ENST00000630130.2, ENST00000695968.1, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695978.1, ENST00000695979.1, ENST00000695981.1, ENST00000695984.1, ENST00000695987.1, ENST00000696023.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1, ENST00000696030.1 ) - Associated Disease
- macular degeneration
- Source Database
- DisGeNET
- Description
- Y402H polymorphism which has been suggested to be a major risk factor of AMD in Caucasians was found to be only marginally associated with exudative AMD with low frequency, whereas three adjacent SNPs in the CFH gene were significantly associated with AMD in Koreans.
- Pubmed
- 18223247
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0111291167552924
- Year of publication
- 2008
Drugs