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
- SNP rs10490924 on chromosome 10 in exon 1 of the ARMS2 gene showed a highly significant association with an odds ratio (OR) of 3.2 (95% CI 2.4-4.2) for the risk allele and rs11200638 located in the proximal promoter region of HTRA1 showed a higher significant association with an OR of 3.4 (95% CI 2.5-4.6) with our AMD cases.
- Pubmed
- 19259132
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.403743137904031
- Year of publication
- 2009
Drugs