Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
0.860 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
0.860 GeneticVariation BEFREE The single nucleotide polymorphism (SNP) rs2476601 within the PTPN22 gene locus results in aberrant function of PTPN22 protein and protects from Crohn's disease (CD). 27467733

2016

dbSNP: rs2476601
rs2476601
0.860 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015

dbSNP: rs2476601
rs2476601
0.860 GeneticVariation BEFREE After Bonferroni correction for multiple testing, both the homozygous and the heterozygous variant genotypes of IL23R G>A(rs11209026) (OR(CD,adj): 0.38, 95% CI: 0.21-0.67, p = 0.03; OR(IBD,adj) 0.43, 95% CI: 0.28-0.67, p = 0.007) and PTPN22 1858 G>A(rs2476601) (OR(CD,unadj) 0.54, 95% CI: 0.41-0.72, p = 7*10-4; OR(IBD,unadj): 0.61, 95% CI: 0.48-0.77, p = 0.001) were associated with reduced risk of CD. 24971461

2014

dbSNP: rs2476601
rs2476601
0.860 GeneticVariation BEFREE Our data not only demonstrate a critical role of PTPN22 in regulating macrophage polarization but also provide a molecular explanation for the protective effect of the C1858T SNP in Crohn's disease. 23913970

2013

dbSNP: rs2476601
rs2476601
0.860 GeneticVariation BEFREE The R263Q polymorphism only associated with UC, whereas the R620W was significantly associated with only CD. 21287672

2011

dbSNP: rs2476601
rs2476601
G 0.860 GeneticVariation GWASDB Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463

2010

dbSNP: rs2476601
rs2476601
G 0.860 GeneticVariation GWASCAT Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463

2010

dbSNP: rs2476601
rs2476601
0.860 GeneticVariation BEFREE In a multiple logistic regression model, the strongest association with CD was found for the 1007fs variant (OR = 4.6, 95% CI 3.0-7.0), followed by p.G908R (OR = 2.9, 95% CI 1.5-5.7) and p.R702W (OR = 1.7, 95% CI 1.0-2.9), while no independent association was found for the remaining variants in the CARD15 gene (p.268S, p.955I and p.289S), for the p.R620W variant in the PTPN22 gene or for the g.-308G>A variant in the TNFA gene. 18489434

2008

dbSNP: rs2476601
rs2476601
G 0.860 GeneticVariation GWASCAT Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394

2008

dbSNP: rs2476601
rs2476601
G 0.860 GeneticVariation GWASDB Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394

2008

dbSNP: rs2476601
rs2476601
0.860 GeneticVariation BEFREE Here, we analysed the functionally relevant polymorphism R620W (rs 2476601) of the PTPN22 gene in 146 patients suffering from CD using restriction fragment length polymorphism (RFLP) analyses. 16164701

2005