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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		A 1.000 GeneticVariation GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		1.000 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		A 1.000 GeneticVariation GWASCAT Studying the effects of haplotype partitioning methods on the RA-associated genomic results from the North American Rheumatoid Arthritis Consortium (NARAC) dataset. 30891314

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		1.000 GeneticVariation GWASCAT A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus. 27193031

2017
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: 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: 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 genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596

2012
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: 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: 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: 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: 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: 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: 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: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.900 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.900 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		A 0.900 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469

2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.900 GeneticVariation GWASCAT A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus. 27193031

2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.900 GeneticVariation GWASCAT Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. 27399966

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		A 0.900 GeneticVariation GWASCAT Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. 26502338

2015
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