Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.730 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs2476601
rs2476601
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.730 GeneticVariation BEFREE The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. 24971461

2014

dbSNP: rs2476601
rs2476601
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.730 GeneticVariation BEFREE SNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (rs2476601) and C13orf31 (rs3764147) genes increase the risk for UC. 23974994

2013

dbSNP: rs2476601
rs2476601
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.730 GeneticVariation BEFREE The aim of this study was to evaluate for the first time the role of the R263Q PTPN22 polymorphism in ulcerative colitis (UC) and Crohn's disease (CD), and to reevaluate the association of the R620W PTPN22 polymorphism with both diseases. 21287672

2011