Annotation Detail

Information
Associated Genes
HTRA1
Associated Variants
HTRA1 c.-625G>A ( ENST00000648167.1 )
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 )
HTRA1 c.-625G>A ( ENST00000648167.1 )
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 )
Associated Disease
age related macular degeneration
Source Database
DisGeNET
Description
Furthermore, FPR1 rs78488639 CA combining with HTRA1 rs11200638 and smoking was also predisposed risks to exudative AMD and PCV.
Pubmed
25277308
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.266913741835053
Year of publication
2014
Drugs