Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		G 0.850 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		G 0.850 GeneticVariation GWASCAT Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463

2010
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		G 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
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
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
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.810 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		G 0.810 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		G 0.810 GeneticVariation GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233

2012
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		G 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
dbSNP: rs11875687
rs11875687
PTPN2
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		C 0.800 GeneticVariation GWASCAT Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. 22057235

2011
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		G 0.800 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		G 0.800 GeneticVariation GWASCAT Multiple common variants for celiac disease influencing immune gene expression. 20190752

2010
dbSNP: rs2847281
rs2847281
PTPN2
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		C 0.800 GeneticVariation GWASCAT Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. 22960999

2012
dbSNP: rs2847281
rs2847281
PTPN2
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		A 0.800 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. 21300955

2011
dbSNP: rs2847297
rs2847297
PTPN2
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		A 0.800 GeneticVariation GWASCAT High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. 24532676

2015
dbSNP: rs2847297
rs2847297
PTPN2
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		G 0.800 GeneticVariation GWASCAT Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. 22446963

2012
dbSNP: rs8083786
rs8083786
PTPN2
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		A 0.800 GeneticVariation GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114

2019
dbSNP: rs8083786
rs8083786
PTPN2
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		G 0.800 GeneticVariation GWASCAT Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342

2014
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		G 0.720 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015
dbSNP: rs514000
rs514000
PTPN2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		C 0.710 GeneticVariation GWASCAT We confirmed 6 previously reported loci in Caucasian: GPR35 at 2q37 (rs3749172; P = 5.30 × 10, odds ratio [OR] = 1.45), ZNF365 at 10q21 (rs224143; P = 2.20 × 10, OR = 1.38), ZMIZ1 at 10q22 (rs1250569; P = 3.05 × 10, OR = 1.30), NKX2-3 at 10q24 (rs4409764; P = 7.93 × 10, OR = 1.32), PTPN2 at 18p11 (rs514000; P = 9.00 × 10, OR = 1.33), and USP25 at 21q11 (rs2823256; P = 2.49 × 10, OR = 1.35), bringing the number of known CD loci (including 3 in the HLA) in Koreans to 15. 25489960

2015
dbSNP: rs12961799
rs12961799
PTPN2
CUI: C1305855
Disease: Body mass index
Body mass index 		C 0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127

2018
dbSNP: rs12967678
rs12967678
PTPN2
CUI: C4049006
Disease: Selective immunoglobulin A deficiency
Selective immunoglobulin A deficiency 		0.700 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016
dbSNP: rs12967678
rs12967678
PTPN2
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016
dbSNP: rs12968719
rs12968719
PTPN2
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs12968719
rs12968719
PTPN2
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs12968719
rs12968719
PTPN2
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016