Annotation Detail

Information
Associated Genes
LEPR
Associated Variants
LEPR p.Gln223Arg (p.Q223R) ( ENST00000344610.12, ENST00000371058.1, ENST00000371060.7, ENST00000616738.4, ENST00000371059.7, ENST00000349533.11 )
LEPR p.Gln223Arg (p.Q223R) ( ENST00000344610.12, ENST00000349533.11, ENST00000371058.1, ENST00000371059.7, ENST00000371060.7, ENST00000616738.4 )
Associated Disease
obesity
Source Database
DisGeNET
Description
The haplotype combination of LEP c.-2548G>A and LEPR p.Q223R variants was related to a 58% increase in obesity risk.
Pubmed
18273796
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.640987722684126
Year of publication
2007
Drugs