Annotation Detail

Information
Associated Genes
CHRNA3
Associated Variants
CHRNA5 c.259-1837A>G ( ENST00000299565.9, ENST00000559554.5 )
CHRNA5 c.414-529T>C ( ENST00000559554.5, ENST00000299565.9 )
CHRNA5 p.Asp398Asn (p.D398N) ( ENST00000299565.9, ENST00000559554.5 )
CHRNA3 c.*546C>T ( ENST00000348639.7, ENST00000326828.6 )
CHRNA5 c.259-1837A>G ( ENST00000299565.9, ENST00000559554.5 )
CHRNA5 c.414-529T>C ( ENST00000299565.9, ENST00000559554.5 )
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
A four-SNP haplotype spanning CHRNA5 (rs11637635 C, rs17408276 T, rs16969968 G) and CHRNA3 (rs578776 G) was associated with increased lung cancer risk (P = 0.002).
Pubmed
20587604
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.179208137073453
Year of publication
2010
Drugs