Annotation Detail

Information
Associated Genes
APOE
Associated Variants
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
APOE p.Arg176Cys (p.R176C) ( ENST00000252486.9 )
LEPR p.Lys109Arg (p.K109R) ( ENST00000344610.12, ENST00000371058.1, ENST00000371060.7, ENST00000616738.4, ENST00000371059.7, ENST00000349533.11 )
ATG16L1 p.Thr317Ala (p.T317A) ( ENST00000347464.9, ENST00000373525.9, ENST00000392017.9, ENST00000392018.1, ENST00000392020.8 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
APOE p.Arg176Cys (p.R176C) ( ENST00000252486.9 )
LEPR p.Lys109Arg (p.K109R) ( ENST00000344610.12, ENST00000349533.11, ENST00000371058.1, ENST00000371059.7, ENST00000371060.7, ENST00000616738.4 )
ATG16L1 p.Thr317Ala (p.T317A) ( ENST00000347464.9, ENST00000373525.9, ENST00000392017.9, ENST00000392018.1, ENST00000392020.8 )
Associated Disease
obesity
Source Database
DisGeNET
Description
Prior to multiple testing correction, univariate analysis associated APOE rs429358, rs7412 and ATG16L1 rs2241880 variants with serum lipid levels, while LEPR rs1137100 and ATG16L1 rs2241880 variants were linked to obesity related QTs.
Pubmed
26043189
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.195505919051587
Year of publication
2015
Drugs