Annotation Detail

Information
Associated Genes
LEPR
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 )
LEPR p.Lys656Asn (p.K656N) ( ENST00000349533.11, ENST00000616738.4, ENST00000371059.7, ENST00000371060.7, ENST00000344610.12, ENST00000371058.1 )
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 )
LEPR p.Lys656Asn (p.K656N) ( ENST00000344610.12, ENST00000349533.11, ENST00000371058.1, ENST00000371059.7, ENST00000371060.7, ENST00000616738.4 )
Associated Disease
obesity
Source Database
DisGeNET
Description
Three non-synonymous single nucleotide polymorphisms (Q223R, K109R and K656N) of the leptin receptor gene (LEPR) have been tested for association with obesity-related outcomes in multiple studies, showing inconclusive results.
Pubmed
22028824
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.640987722684126
Year of publication
2011
Drugs