Annotation Detail
Information
- Associated Genes
- CX3CR1
- Associated Variants
-
CX3CR1 p.Thr312Met (p.T312M)
(
ENST00000358309.3,
ENST00000399220.3,
ENST00000541347.5,
ENST00000542107.5 )
CX3CR1 p.Val281Ile (p.V281I) ( ENST00000358309.3, ENST00000399220.3, ENST00000541347.5, ENST00000542107.5 )
CX3CR1 p.Thr312Met (p.T312M) ( ENST00000358309.3, ENST00000399220.3, ENST00000541347.5, ENST00000542107.5 )
CX3CR1 p.Val281Ile (p.V281I) ( ENST00000358309.3, ENST00000399220.3, ENST00000541347.5, ENST00000542107.5 ) - Associated Disease
- coronary artery disease
- Source Database
- DisGeNET
- Description
- Two CX3CR1 mutations, V249I and T280M, reportedly decrease coronary artery disease (CAD) risk independent of established risk factors.
- Pubmed
- 18609106
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0187170146084667
- Year of publication
- 2008
Drugs