Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		T 1.000 GeneticVariation GWASCAT Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. 17554260

2007
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		A 1.000 GeneticVariation GWASCAT A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		1.000 GeneticVariation GWASCAT TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836

2007
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		G 0.860 GeneticVariation GWASCAT Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394

2008
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		1.000 GeneticVariation GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480

2009
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		1.000 GeneticVariation GWASCAT REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088

2009
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		A 0.900 GeneticVariation GWASCAT A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 19838195

2009
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0042900
Disease: Vitiligo
Vitiligo 		A 0.860 GeneticVariation GWASCAT Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. 20410501

2010
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		A 1.000 GeneticVariation GWASCAT Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842

2010
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		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
PTPN22 ; AP4B1-AS1
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		1.000 GeneticVariation GWASCAT A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761

2011
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		A 1.000 GeneticVariation GWASCAT Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393

2011
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0018213
Disease: Graves Disease
Graves Disease 		A 0.900 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229

2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		A 0.850 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229

2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		A 0.720 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229

2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		A 0.900 GeneticVariation GWASCAT Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		A 0.800 GeneticVariation GWASCAT Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		A 1.000 GeneticVariation GWASCAT High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596

2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		A 1.000 GeneticVariation GWASCAT Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342

2014
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		1.000 GeneticVariation GWASCAT Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. 24449572

2014
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		A 1.000 GeneticVariation GWASCAT High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. 24532676

2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		A 0.740 GeneticVariation GWASCAT Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. 25608926

2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		A 1.000 GeneticVariation GWASCAT Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. 25751624

2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		A 1.000 GeneticVariation GWASCAT Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. 25936594

2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		A 0.720 GeneticVariation GWASCAT Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. 25936594

2015