Annotation Detail

Information
Associated Genes
PTPN22
Associated Variants
PTPN22 SNV
PTPN22 c.-1123C>G
STAT4 c.274-23582A>C ( ENST00000392320.7, ENST00000358470.8, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 )
PTPN22 SNV
PTPN22 c.-1123C>G
STAT4 c.274-23582A>C ( ENST00000358470.8, ENST00000392320.7, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 )
Associated Disease
Juvenile arthritis
Source Database
DisGeNET
Description
STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms influence the risk of developing juvenile idiopathic arthritis in Han Chinese patients.
Pubmed
25781893
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0187170146084667
Year of publication
2014
Drugs