Annotation Detail
Information
- Associated Genes
- ADAMTS7
- Associated Variants
-
ADAMTS7 p.Ser214Pro (p.S214P)
(
ENST00000388820.5 )
ADAMTS7 p.Ser214Pro (p.S214P) ( ENST00000388820.5 ) - Associated Disease
- atherosclerosis
- Source Database
- DisGeNET
- Description
- The results of our study indicate that rs3825807 has an effect on ADAMTS7 maturation, thrombospondin-5 cleavage, and VSMC migration, with the variant associated with protection from atherosclerosis and CAD rendering a reduction in ADAMTS7 function.
- Pubmed
- 23415669
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00345279946692324
- Year of publication
- 2013
Drugs