Annotation Detail

Information
Associated Genes
CHRNA3
Associated Variants
CHRNA5 p.Asp398Asn (p.D398N) ( ENST00000299565.9, ENST00000559554.5 )
CHRNA3 c.*546C>T ( ENST00000348639.7, ENST00000326828.6 )
CHRNA5 p.Asp398Asn (p.D398N) ( ENST00000299565.9, ENST00000559554.5 )
CHRNA3 c.*546C>T ( ENST00000326828.6, ENST00000348639.7 )
Associated Disease
Malignant neoplasm of lung
Source Database
DisGeNET
Description
Two variants in the nicotinic acetylcholine receptor subunit genes CHRNA5 and CHRNA3 on 15q25, rs16969968 and rs578776, were associated with cotinine (P = 0.001 and 0.03, respectively) in current smokers and with lung cancer risk (P < 0.001 and P = 0.001, respectively).
Pubmed
21862624
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.179208137073453
Year of publication
2011
Drugs