Annotation Detail
Information
- Associated Genes
- ARMS2
- Associated Variants
-
ARMS2 p.Arg38= (p.R38=)
(
ENST00000528446.1 )
ARMS2 p.Arg38Ter (p.R38*) ( ENST00000528446.1 )
ARMS2 p.Arg38= (p.R38=) ( ENST00000528446.1 )
ARMS2 p.Arg38Ter (p.R38*) ( ENST00000528446.1 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- PheWAS results indicate that a nonsense variant in ARMS2 (rs2736911) is associated with age-related macular degeneration (AMD).
- Pubmed
- 25074467
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.403743137904031
- Year of publication
- 2014
Drugs