Annotation Detail
Information
- Associated Genes
- CX3CL1
- 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
- The CX3CR1 gene encodes the fractalkine (CX3CL1) receptor and has two coding single-nucleotide polymorphisms, V249I and T280M, linked to a lower risk of other inflammatory diseases such as coronary artery disease (CAD) and asthma.
- Pubmed
- 20523302
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00326723398662778
- Year of publication
- 2011
Drugs