Annotation Detail

Information
Associated Genes
APOBR
Associated Variants
APOBR p.Pro428Ala (p.P428A) ( ENST00000564831.6 )
SH2B1 p.Thr484Ala (p.T484A) ( ENST00000322610.12, ENST00000684370.1, ENST00000538342.5, ENST00000618521.4, ENST00000395532.8, ENST00000707128.1, ENST00000337120.9 )
SH2B1 p.Thr484Ser (p.T484S) ( ENST00000395532.8, ENST00000707128.1, ENST00000618521.4, ENST00000538342.5, ENST00000322610.12, ENST00000684370.1, ENST00000337120.9 )
APOBR p.Pro428Ala (p.P428A) ( ENST00000564831.6 )
SH2B1 p.Thr484Ala (p.T484A) ( ENST00000322610.12, ENST00000337120.9, ENST00000395532.8, ENST00000538342.5, ENST00000618521.4, ENST00000684370.1, ENST00000707128.1 )
SH2B1 p.Thr484Ser (p.T484S) ( ENST00000322610.12, ENST00000337120.9, ENST00000395532.8, ENST00000538342.5, ENST00000618521.4, ENST00000684370.1, ENST00000707128.1 )
Associated Disease
obesity
Source Database
DisGeNET
Description
Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R (rs180743) in obese children and adolescents undergoing a 1-year lifestyle intervention.
Pubmed
23519644
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2014
Drugs