Annotation Detail

Information
Associated Genes
PTPN22
Associated Variants
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000525799.1, ENST00000538253.5, ENST00000420377.6, ENST00000528414.5, ENST00000460620.5, ENST00000359785.10 )
TRAF1 c.228+1826C>T ( ENST00000373887.8, ENST00000540010.1 )
rs3761847 ( ENST00000540010.1 )
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 )
TRAF1 c.228+1826C>T ( ENST00000373887.8, ENST00000540010.1 )
rs3761847 ( ENST00000540010.1 )
Associated Disease
rheumatoid arthritis
Source Database
DisGeNET
Description
We genotyped SNPs rs3761847 and rs7021206 at the TRAF1/C5 locus and rs2476601 SNP in the PTPN22 gene in a Han Chinese cohort composed of 576 patients with RA and 689 controls.
Pubmed
21492465
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.524345610778177
Year of publication
2011
Drugs