Annotation Detail

Information
Associated Genes
ARMS2
Associated Variants
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
Associated Disease
age related macular degeneration
Source Database
DisGeNET
Description
Among eyes with exudative AMD, RPD is more common in eyes with RAP having a thin choroid at the fovea, especially in old, female patients with the risk variant of ARMS2 A69S.
Pubmed
24595987
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.403743137904031
Year of publication
2014
Drugs