Annotation Detail
Information
- Associated Genes
- C2-AS1
- Associated Variants
-
ENSG00000244255 c.530-1292G>C, C2 p.Glu318Asp (p.E318D)
(
ENST00000299367.10,
ENST00000442278.6,
ENST00000447952.7,
ENST00000452323.7,
ENST00000469372.5,
ENST00000497706.6,
ENST00000695637.1,
ENST00000695638.1,
ENST00000695644.1 )
ENSG00000244255 c.530-1292G>C, C2 p.Glu318Asp (p.E318D) ( ENST00000299367.10, ENST00000442278.6, ENST00000447952.7, ENST00000452323.7, ENST00000469372.5, ENST00000497706.6, ENST00000695637.1, ENST00000695638.1, ENST00000695644.1 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
- Pubmed
- 22705344
- Original source reporting the Gene Disease association
- GWASCAT
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- 2012
Drugs