Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
dbSNP: rs12968719
rs12968719
PTPN2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		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: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		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: rs149850873
rs149850873
PTPN2
CUI: C1858558
Disease: Rheumatoid Arthritis, Systemic Juvenile
Rheumatoid Arthritis, Systemic Juvenile 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs149850873
rs149850873
PTPN2
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs149850873
rs149850873
PTPN2
CUI: C3898105
Disease: Oligoarticular Juvenile Idiopathic Arthritis
Oligoarticular Juvenile Idiopathic Arthritis 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs149850873
rs149850873
PTPN2
CUI: C2931171
Disease: Juvenile pauciarticular chronic arthritis
Juvenile pauciarticular chronic arthritis 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs149850873
rs149850873
PTPN2
CUI: C3890205
Disease: Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs149850873
rs149850873
PTPN2
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs2847273
rs2847273
PTPN2
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs2847281
rs2847281
PTPN2
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. 22960999

2012
dbSNP: rs2852151
rs2852151
PTPN2
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		A 0.700 GeneticVariation GWASCAT Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. 30388399

2018
dbSNP: rs559406
rs559406
PTPN2
CUI: C0033860
Disease: Psoriasis
Psoriasis 		G 0.700 GeneticVariation GWASCAT Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants. 28537254

2017
dbSNP: rs56150366
rs56150366
PTPN2
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		T 0.700 GeneticVariation GWASCAT Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. 30388399

2018
dbSNP: rs62097857
rs62097857
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
dbSNP: rs62097857
rs62097857
PTPN2
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016