Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 c.428-430T>G, CFH c.428-430T>G
(
ENST00000695971.1,
ENST00000695974.1,
ENST00000695969.1,
ENST00000695979.1,
ENST00000695976.1,
ENST00000695970.1,
ENST00000367429.9,
ENST00000359637.3,
ENST00000695984.1,
ENST00000695981.1,
ENST00000696027.1,
ENST00000696023.1,
ENST00000696029.1,
ENST00000630130.2,
ENST00000695987.1,
ENST00000695978.1,
ENST00000696028.1,
ENST00000695968.1,
ENST00000696030.1 )
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.428-430T>G, CFH c.428-430T>G ( 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 )
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
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- Our results validate AMD susceptibility loci near CFH (P < 10(-75)), ARMS2 (P < 10(-59)), C2/CFB (P < 10(-20)), C3 (P < 10(-9)), and CFI (P < 10(-6)).
- Pubmed
- 20385819
- Original source reporting the Gene Disease association
- GWASCAT
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2010
Drugs