Annotation Detail

Information
Associated Genes
SLC6A4
Associated Variants
ANKK1 p.Glu713Lys (p.E713K) ( ENST00000303941.4 )
HTR2A c.-329+609G>A
CHRNA5 p.Asp398Asn (p.D398N) ( ENST00000299565.9, ENST00000559554.5 )
CHRNA3 c.*546C>T ( ENST00000348639.7, ENST00000326828.6 )
CYP2A6 p.Leu160His (p.L160H) ( ENST00000301141.10 )
rs28399433
CYP2A13 p.Arg101Ter (p.R101*) ( ENST00000330436.4 )
CYP2A13 p.Arg257Cys (p.R257C) ( ENST00000330436.4 )
OPRM1 p.Asn133Asp (p.N133D) ( ENST00000229768.9, ENST00000330432.12, ENST00000337049.8, ENST00000360422.8, ENST00000414028.6, ENST00000419506.6, ENST00000428397.6, ENST00000434900.6, ENST00000435918.6, ENST00000452687.6, ENST00000518759.5, ENST00000520708.5, ENST00000524163.5 )
CNR1 c.-63-6233C>G ( ENST00000369499.3, ENST00000369501.3, ENST00000428600.3 )
ANKK1 p.Glu713Lys (p.E713K) ( ENST00000303941.4 )
HTR2A c.-329+609G>A
CHRNA5 p.Asp398Asn (p.D398N) ( ENST00000299565.9, ENST00000559554.5 )
CHRNA3 c.*546C>T ( ENST00000326828.6, ENST00000348639.7 )
CYP2A6 p.Leu160His (p.L160H) ( ENST00000301141.10 )
rs28399433
CYP2A13 p.Arg101Ter (p.R101*) ( ENST00000330436.4 )
CYP2A13 p.Arg257Cys (p.R257C) ( ENST00000330436.4 )
OPRM1 p.Asn133Asp (p.N133D) ( ENST00000229768.9, ENST00000330432.12, ENST00000337049.8, ENST00000360422.8, ENST00000414028.6, ENST00000419506.6, ENST00000428397.6, ENST00000434900.6, ENST00000435918.6, ENST00000452687.6, ENST00000518759.5, ENST00000520708.5, ENST00000524163.5 )
CNR1 c.-63-6233C>G ( ENST00000369499.3, ENST00000369501.3, ENST00000428600.3 )
Associated Disease
nicotine dependence
Source Database
DisGeNET
Description
The purpose of this study was to analyse the association of smoking status and smoking-related phenotypes (included nicotine dependence) with 17 candidate genetic variants: CYP2A6*1×2, CYP2A6*2 (1799T>A) [rs1801272], CYP2A6*9 (-48T>G) [rs28399433], CYP2A6*12, CYP2A13*2 (3375C>T) [rs8192789], CYP2A13*3 (7520C>G), CYP2A13*4 (579G>A), CYP2A13*7 (578C>T) [rs72552266], CYP2B6*4 (785A>G), CYP2B6*9 (516G>T), CHRNA3 546C>T [rs578776], CHRNA5 1192G>A [rs16969968], CNR1 3764C>G [rs6928499], DRD2-ANKK1 2137G>A (Taq1A) [rs1800497], 5HTT LPR, HTR2A -1438A>G [rs6311] and OPRM1 118A>G [rs1799971].
Pubmed
22046326
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00190009310456212
Year of publication
2011
Drugs