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: 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: C0027121
Disease: Myositis
Myositis 		0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

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: 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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
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: 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: 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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		A 0.700 GeneticVariation GWASCAT Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma. 30194254

2018
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: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

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: 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: 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: 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: 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
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: 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: 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: 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