Annotation Detail

Information
Associated Genes
STAT4
Associated Variants
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000525799.1, ENST00000538253.5, ENST00000420377.6, ENST00000528414.5, ENST00000460620.5, ENST00000359785.10 )
STAT4 c.274-23582A>C ( ENST00000392320.7, ENST00000358470.8, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 )
rs10499194
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 )
STAT4 c.274-23582A>C ( ENST00000358470.8, ENST00000392320.7, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 )
rs10499194
Associated Disease
rheumatoid arthritis
Source Database
DisGeNET
Description
Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confidence interval 0.44-0.83]), PTPN22 rs2476601 (OR 1.61 [95% confidence interval 1.11-2.31]), and STAT4 rs7574865 (OR 1.41 [95% confidence interval 1.06-1.87]) variants.
Pubmed
23450725
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.316739695105088
Year of publication
2013
Drugs