Annotation Detail
Information
- Associated Genes
- FGF13
- Associated Variants
-
ABCA4 p.His423Arg (p.H423R)
(
ENST00000370225.4,
ENST00000649773.1 )
ABCA4 p.His423Pro (p.H423P) ( ENST00000370225.4, ENST00000649773.1 )
AFG2A c.163+809C>A ( ENST00000274008.5, ENST00000675612.1 )
ABCA4 p.His423Arg (p.H423R) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.His423Pro (p.H423P) ( ENST00000370225.4, ENST00000649773.1 )
AFG2A c.163+809C>A ( ENST00000274008.5, ENST00000675612.1 ) - Associated Disease
- Atrophic condition of skin
- Source Database
- DisGeNET
- Description
- A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associated with atrophic AMD, and the functional SNP rs3112831 at ABCA4 showed a marginal association with the disease.
- Pubmed
- 21106043
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2011
Drugs