Annotation Detail

Information
Associated Genes
ARMS2
Associated Variants
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
HTRA1 c.-625G>A ( ENST00000648167.1 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
HTRA1 c.-625G>A ( ENST00000648167.1 )
Associated Disease
age related macular degeneration
Source Database
DisGeNET
Description
The HTRA1 promoter SNP (rs11200638) and A69S at LOC387715/ARMS2 were associated with a poorer visual outcome for ranibizumab or bevacizumab treatment in neovascular AMD, suggesting strong pharmacogenetic associations with anti-VEGF treatment.
Pubmed
23582991
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.403743137904031
Year of publication
2013
Drugs