Annotation Detail

Information
Associated Genes
CHRNA5
Associated Variants
CHRNA5 p.Asp398Asn (p.D398N) ( ENST00000299565.9, ENST00000559554.5 )
CHRNA5 p.Asp398Asn (p.D398N) ( ENST00000299565.9, ENST00000559554.5 )
Associated Disease
nicotine dependence
Source Database
DisGeNET
Description
Recently a candidate gene study in nicotine dependent cases and nondependent smoking controls reported strong associations between a missense mutation (rs16969968) in exon 5 of the CHRNA5 gene and a variant in the 3'-UTR of the CHRNA3 gene and nicotine dependence.
Pubmed
18414406
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0196633669216207
Year of publication
2009
Drugs