Annotation Detail
Information
- Associated Genes
- CHRNA5
- 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
- Carcinoma 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
- 0.012486326115694
- Year of publication
- 2011
Drugs