Annotation Detail

Information
Associated Genes
SLC6A4
Associated Variants
HTR3B p.Tyr129Ser (p.Y129S) ( ENST00000537778.5, ENST00000260191.8 )
HTR3B c.696+3792G>A ( ENST00000260191.8, ENST00000537778.5 )
HTR3A c.545-56G>T ( ENST00000506841.6, ENST00000299961.5, ENST00000355556.6, ENST00000375498.6, ENST00000504030.7 )
SLC6A4 c.*463T>G ( ENST00000650711.1, ENST00000261707.7, ENST00000401766.6 )
HTR3B p.Tyr129Ser (p.Y129S) ( ENST00000260191.8, ENST00000537778.5 )
HTR3B c.696+3792G>A ( ENST00000260191.8, ENST00000537778.5 )
HTR3A c.545-56G>T ( ENST00000299961.5, ENST00000355556.6, ENST00000375498.6, ENST00000504030.7, ENST00000506841.6 )
SLC6A4 c.*463T>G ( ENST00000261707.7, ENST00000401766.6, ENST00000650711.1 )
Associated Disease
Alcoholic Intoxication, Chronic
Source Database
DisGeNET
Description
Subsequent analysis of these two interaction models revealed an OR of 2.71 and 2.80, respectively, for AD (P < 0.001) in carriers of genotype combinations 5'-HTTLPR:LL/LS(SLC6A4)-rs1042173:TT/TG(SLC6A4)-rs1176744:AC(HTR3B)-rs3782025:AG(HTR3B) and 5'-HTTLPR:LL/LS(SLC6A4)-rs10160548:GT/TT(HTR3A)-rs1176744:AC(HTR3B)-rs3782025:AG(HTR3B).
Pubmed
23757001
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.215482118230241
Year of publication
2013
Drugs