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 		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: 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: 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 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: 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: C0010346
Disease: Crohn Disease
Crohn Disease 		0.860 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.740 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.730 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.710 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.860 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		G 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		G 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		G 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0085655
Disease: Polymyositis
Polymyositis 		A 0.710 GeneticVariation GWASCAT Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups. 26362759

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0027121
Disease: Myositis
Myositis 		A 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups. 26362759

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.800 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016
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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.730 GeneticVariation GWASCAT First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes. 30254083

2018
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C1739108
Disease: Latent Autoimmune Diabetes in Adults
Latent Autoimmune Diabetes in Adults 		0.710 GeneticVariation GWASCAT First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes. 30254083

2018
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: 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 		A 1.000 GeneticVariation GWASCAT Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342

2014
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