Annotation Detail

Information
Associated Genes
CHRNA5
Associated Variants
PML c.1710+1786C>T ( ENST00000436891.7, ENST00000395135.7, ENST00000435786.6, ENST00000354026.10, ENST00000395132.6, ENST00000268059.10, ENST00000565898.5, ENST00000563500.5, ENST00000268058.8, ENST00000564428.5, ENST00000569965.5, ENST00000359928.8 )
CHRNA5 p.Asp398Asn (p.D398N) ( ENST00000299565.9, ENST00000559554.5 )
CHRNA3 c.377+1710A>G ( ENST00000348639.7, ENST00000326828.6 )
PML c.1710+1786C>T ( ENST00000268058.8, ENST00000268059.10, ENST00000354026.10, ENST00000359928.8, ENST00000395132.6, ENST00000395135.7, ENST00000435786.6, ENST00000436891.7, ENST00000563500.5, ENST00000564428.5, ENST00000565898.5, ENST00000569965.5 )
CHRNA5 p.Asp398Asn (p.D398N) ( ENST00000299565.9, ENST00000559554.5 )
CHRNA3 c.377+1710A>G ( ENST00000326828.6, ENST00000348639.7 )
Associated Disease
nicotine dependence
Source Database
DisGeNET
Description
One CHRNA5 (rs16969968) and two CHRNA3 (rs1051703, rs6495308) SNPs were examined for their ability to predict smokers who ever reported ND based on three phenotypic classifications: (1) 25+ CPD, (2) TTF < 10 min, and (3) HSI ≥ 4.
Pubmed
22223462
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0196633669216207
Year of publication
2012
Drugs