Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Cys130Arg (p.C130R)
(
ENST00000252486.9 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 ) - Associated Disease
- Down syndrome
- Source Database
- DisGeNET
- Description
- As expected, the most strongly associated SNP was the APOE ɛ4 rs429358 variant (HR=2.47 [1.58, 3.87], p=7.52×10(-5)), although variants within the more recently implicated SORL1 and RUNX1 genes were also strongly associated with DAD in DS (HR=0.54 [0.37, 0.80], p=0.002 and HR=1.61 [1.15, 2.26], p=0.006 respectively).
- Pubmed
- 20946940
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0302708011077324
- Year of publication
- 2011
Drugs