Annotation Detail

Information
Associated Genes
CHRNA5
Associated Variants
CHRNA5 MUTATION
CHRNA5 MUTATION
CHRNA5 p.Asp398Asn (p.D398N) ( ENST00000299565.9, ENST00000559554.5 )
CHRNA5 p.Asp398Asn (p.D398N) ( ENST00000299565.9, ENST00000559554.5 )
Associated Disease
Adenocarcinoma of lung (disorder)
Source Database
DisGeNET
Description
The carrier status of the 398N allele at the D398N polymorphism of the CHRNA5 gene was associated with lung adenocarcinoma risk (odds ratio, 1.5; 95% confidence interval, 1.2-2.0) in a population-based series of lung adenocarcinoma patients (n=467) and healthy controls (n=739).
Pubmed
19223495
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00345279946692324
Year of publication
2009
Drugs