Annotation Detail

Information
Associated Genes
SH2B3
Associated Variants
SH2B3 p.Trp262Arg (p.W262R) ( ENST00000341259.7, ENST00000538307.1 )
rs6000782
SH2B3 p.Trp262Arg (p.W262R) ( ENST00000341259.7, ENST00000538307.1 )
rs6000782
Associated Disease
Hepatitis, Autoimmune
Source Database
DisGeNET
Description
We also associated AIH with variants of SH2B3 (rs3184504, 12q24; P = 7.7 × 10(-8)) and CARD10 (rs6000782, 22q13.1; P = 3.0 × 10(-6)).
Pubmed
24768677
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs