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
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Pubmed
23563607
Original source reporting the Gene Disease association
GWASCAT
DisGENET score for the Gene Disease association
0.277828904395914
Year of publication
2013
Drugs