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
asthma
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
0.000542883744160607
Year of publication
2011
Drugs