Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
FPR1 p.Leu97= (p.L97=)
(
ENST00000304748.5,
ENST00000594900.2,
ENST00000595042.5,
ENST00000600815.2 )
FPR1 p.Leu97Met (p.L97M) ( ENST00000304748.5, ENST00000594900.2, ENST00000595042.5, ENST00000600815.2 )
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I) ( ENST00000695968.1, ENST00000696030.1, ENST00000696028.1, ENST00000630130.2, ENST00000696023.1, ENST00000696029.1, ENST00000695978.1, ENST00000695987.1, ENST00000696027.1, ENST00000695981.1, ENST00000359637.3, ENST00000695984.1, ENST00000695970.1, ENST00000367429.9, ENST00000695976.1, ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695979.1 )
FPR1 p.Leu97= (p.L97=) ( ENST00000304748.5, ENST00000594900.2, ENST00000595042.5, ENST00000600815.2 )
FPR1 p.Leu97Met (p.L97M) ( ENST00000304748.5, ENST00000594900.2, ENST00000595042.5, ENST00000600815.2 )
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I) ( 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
- Combined heterozygous risk alleles of CFH rs800292 GA and FPR1 rs78488639 CA were posed to PCV (P=2.22 × 10(-4), OR=10.47), but not exudative AMD.
- Pubmed
- 25277308
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0111291167552924
- Year of publication
- 2014
Drugs