rs1893217, PTPN2

N. diseases: 14
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.850 GeneticVariation BEFREE The single nucleotide polymorphism (SNP) rs1893217 within the gene locus encoding protein tyrosine phosphatase non-receptor type 2 (PTPN2) results in a dysfunctional PTPN2 protein is associated with Crohn's disease (CD) and exists in perfect linkage disequilibrium with the CD- and ulcerative colitis (UC)-associated PTPN2 SNP rs2542151. 26928573 2016
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.850 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.850 GeneticVariation BEFREE Moreover, a significant increase in CD risk for all carriers of the minor allele of rs1893217 (OR = 1.45, 95 % CI, 1.23-1.70, I (2) = 0 %) and rs7234029 (OR = 1.36, 95 % CI, 1.16-1.59, I (2) = 0 %) were found. 24127071 2014
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.850 GeneticVariation BEFREE In stage 1, we observed associations between 5 intronic SNPs and CD including rs1893217 (P = 2 × 10⁻⁴), the SNP that is in perfect linkage disequilibrium with the lead genome-wide association studies SNP rs2542151. 23518806 2013
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.850 GeneticVariation BEFREE We identified a novel association between the genetic variant, rs1893217, located in intron 7 of the PTPN2 gene and CD. 22021207 2012
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.850 GeneticVariation GWASDB A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease. 21298027 2011
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.850 GeneticVariation GWASCAT Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.850 GeneticVariation GWASDB Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.850 GeneticVariation BEFREE Allelic association analysis (two-tailed) showed that three of the five targeted SNPs were significantly associated with overall susceptibility for CD (ZNF365, r10995271, P = 0.001; PTPN2, rs1893217, P = 0.005; STAT3, rs744166, P = 0.01). 20222910 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.850 GeneticVariation GWASDB Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394 2008
Diabetes Mellitus, Insulin-Dependent
0.830 GeneticVariation BEFREE Our results suggest that rs1893217 may increase the risk of early-onset T1D and affect humoral immunity, while rs478582 may affect Treg subsets. 31030572 2019
Diabetes Mellitus, Insulin-Dependent
0.830 GeneticVariation GWASCAT Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. 25751624 2015
Diabetes Mellitus, Insulin-Dependent
0.830 GeneticVariation BEFREE The rs1893217 (T/C) polymorphism in PTPN2 gene is not associated with type 1 diabetes mellitus in subjects from Southern Brazil. 24936733 2014
Diabetes Mellitus, Insulin-Dependent
0.830 GeneticVariation BEFREE In children with the PTPN2 rs1893217 AA genotype, the VDR rs1544410 AA/AG genotype was associated with a decreased risk of T1D (HR: 0.24, 95% CI: 0.11-0.53, p=0.0004), while in children with the PTPN2 rs1893217 GG/GA genotype, the VDR rs1544410 AA/AG genotype was not associated with T1D (HR: 1.32, 95% CI: 0.43-4.06, p=0.62). 22960018 2013
Diabetes Mellitus, Insulin-Dependent
0.830 GeneticVariation GWASDB A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. 21980299 2011
Diabetes Mellitus, Insulin-Dependent
0.830 GeneticVariation GWASDB Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
Diabetes Mellitus, Insulin-Dependent
0.830 GeneticVariation GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.810 GeneticVariation BEFREE Genome-wide association studies have linked single-nucleotide polymorphisms in the phosphatases <i>PTPN22</i> (rs2476601) and <i>PTPN2</i> (rs1893217) to increased risk for multiple autoimmune diseases. 31722988 2019
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.810 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.810 GeneticVariation BEFREE We investigated associations of PTPN2 SNP rs1893217 and clinical characteristics of inflammatory bowel disease (IBD) patients. 26928573 2016
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.810 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.810 GeneticVariation GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.810 GeneticVariation GWASDB Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.810 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.810 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011