Annotation Detail

Information
Associated Genes
LEP
Associated Variants
LEPR p.Lys109Arg (p.K109R) ( ENST00000344610.12, ENST00000371058.1, ENST00000371060.7, ENST00000616738.4, ENST00000371059.7, ENST00000349533.11 )
LEPR p.Gln223Arg (p.Q223R) ( ENST00000344610.12, ENST00000371058.1, ENST00000371060.7, ENST00000616738.4, ENST00000371059.7, ENST00000349533.11 )
rs7799039
LEPR p.Lys109Arg (p.K109R) ( ENST00000344610.12, ENST00000349533.11, ENST00000371058.1, ENST00000371059.7, ENST00000371060.7, ENST00000616738.4 )
LEPR p.Gln223Arg (p.Q223R) ( ENST00000344610.12, ENST00000349533.11, ENST00000371058.1, ENST00000371059.7, ENST00000371060.7, ENST00000616738.4 )
rs7799039
Associated Disease
obesity
Source Database
DisGeNET
Description
This study examined the association of a promoter polymorphism of the leptin gene (LEP), G-2548A (rs7799039), and two non-synonymous single nucleotide polymorphisms of the leptin receptor gene (LEPR), K109R (rs1137100) and Q223R (rs1137101), with body weight, body mass index (BMI) and obesity (BMI > or = 30) in Pacific Islanders.
Pubmed
20183928
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.44
Year of publication
2010
Drugs