Annotation Detail
Information
- Associated Genes
- HTRA1
- 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 ARMS2/HTRA1 genes at the 10q26 locus have been associated with risk of age-related macular degeneration (AMD), with the most significantly associated variants being A69S (rs10490924), del443ins54 (EU427539) and rs11200638.
- Pubmed
- 23592919
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.266913741835053
- Year of publication
- 2013
Drugs