Annotation Detail

Information
Associated Genes
ATF7IP
Associated Variants
ATF7IP MUTATION
ATF7IP MUTATION
rs28386840
SLC6A2 c.-182C>T ( ENST00000568943.6, ENST00000219833.13, ENST00000379906.6, ENST00000414754.7 )
SLC5A7 p.Ile89Val (p.I89V) ( ENST00000264047.3, ENST00000409059.5 )
rs28386840
SLC6A2 c.-182C>T ( ENST00000219833.13, ENST00000379906.6, ENST00000414754.7, ENST00000568943.6 )
SLC5A7 p.Ile89Val (p.I89V) ( ENST00000264047.3, ENST00000409059.5 )
Associated Disease
Recurrent depression
Source Database
DisGeNET
Description
MPT analyses show significant associations of the norepinephrine transporter (NET, SLC6A2) -182 T/C (rs2242446) with recurrent depression [odds ratio, OR = 4.15 (1.91-9.02)], NET -3081 A/T (rs28386840) with increase in appetite [OR = 3.58 (1.53-8.39)] and the presynaptic choline transporter (CHT, SLC5A7) Ile89Val (rs1013940) with HAM-D-17 total score {i.e.
Pubmed
18081710
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2008
Drugs