Annotation Detail

Information
Associated Genes
ARMS2
Associated Variants
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
SKIC2 c.1212-29G>A ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
SKIC2 c.1212-29G>A ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
Associated Disease
age related macular degeneration
Source Database
DisGeNET
Description
After adjusting for age, gender, ARMS2 A69S, and CFHI62V, the A allele of rs429608 was significantly protective against neovascular AMD (odds ratio [OR] 0.24, 95% confidence interval [CI] 0.122-0.484, p < 0.001), PCV (OR 0.43, 95% CI 0.262-0.704, p = 0.001), RAP (OR 0.09, 95% CI 0.014-0.581, p = 0.011).
Pubmed
24865191
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.403743137904031
Year of publication
2015
Drugs