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
- Geographic Atrophy
- Source Database
- DisGeNET
- Description
- Comparing combined CNV-GA to GA and CNV only, patients with both had a higher frequency of at-risk alleles at both SNPs within the HTRA1 gene-rs10490924 (52.5%), rs11200638 (52.6%).
- Pubmed
- 22699975
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0116396628910506
- Year of publication
- 2012
Drugs