Annotation Detail

Information
Associated Genes
SH2B1
Associated Variants
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 )
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
Replication of the SH2B1 rs7498665 association with obesity in a Belgian study population.
Pubmed
22248999
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.277828904395914
Year of publication
2011
Drugs