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
nicotine dependence
Source Database
DisGeNET
Description
The CHRNA3 rs1051730 polymorphism has been associated to chronic obstructive pulmonary disease (COPD), lung cancer and nicotine dependence in case-control studies with high smoking exposure; however, its influence on lung function and COPD severity in the general population is largely unknown.
Pubmed
22441734
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.133420203863774
Year of publication
2012
Drugs