Annotation Detail

Information
Associated Genes
CHRNA3
Associated Variants
CHRNA3 p.Tyr215= (p.Y215=) ( ENST00000348639.7, ENST00000326828.6 )
CHRNA3 p.Tyr215= (p.Y215=) ( ENST00000326828.6, ENST00000348639.7 )
Associated Disease
Chronic Obstructive Airway Disease
Source Database
DisGeNET
Description
In ever-smokers, the CHRNA3 rs1051730 genotype associated with reduced lung function and increased COPD severity.
Pubmed
22441734
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.129077133910489
Year of publication
2012
Drugs