Variant: rs2476601 

    present in Gene: AP4B1-AS1;PTPN22
    present in Chromosome: 1
    Position on Chromosome: 113834946
    Alleles of this Variant: A/G

rs2476601 in AP4B1-AS1;PTPN22 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2476601 in AP4B1-AS1;PTPN22 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2476601 in AP4B1-AS1;PTPN22 gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2476601 in AP4B1-AS1;PTPN22 gene and Alopecia Areata PMID 25608926 2015 Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.

rs2476601 in AP4B1-AS1;PTPN22 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs2476601 in AP4B1-AS1;PTPN22 gene and Asthma PMID 21150878 2011 Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia.

rs2476601 in AP4B1-AS1;PTPN22 gene and Autoantibody measurement PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

rs2476601 in AP4B1-AS1;PTPN22 gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 23055271 2012 Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

rs2476601 in AP4B1-AS1;PTPN22 gene and Autoimmune thyroiditis PMID 25936594 2015 Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.

PMID 22922229 2012 Seven newly identified loci for autoimmune thyroid disease.

rs2476601 in AP4B1-AS1;PTPN22 gene and Basal Cell Cancer PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs2476601 in AP4B1-AS1;PTPN22 gene and Basal Cell Neoplasm PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs2476601 in AP4B1-AS1;PTPN22 gene and Basal cell carcinoma PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs2476601 in AP4B1-AS1;PTPN22 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2476601 in AP4B1-AS1;PTPN22 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs2476601 in AP4B1-AS1;PTPN22 gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 18587394 2008 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

rs2476601 in AP4B1-AS1;PTPN22 gene and Diabetes Mellitus, Insulin-Dependent PMID 25751624 2015 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

PMID 19430480 2009 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

PMID 25936594 2015 Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.

PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

PMID 21980299 2011 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

PMID 17554260 2007 Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.

rs2476601 in AP4B1-AS1;PTPN22 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30254083 2018 First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes.

rs2476601 in AP4B1-AS1;PTPN22 gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2476601 in AP4B1-AS1;PTPN22 gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2476601 in AP4B1-AS1;PTPN22 gene and Graves Disease PMID 22922229 2012 Seven newly identified loci for autoimmune thyroid disease.

rs2476601 in AP4B1-AS1;PTPN22 gene and Hashimoto Disease PMID 22922229 2012 Seven newly identified loci for autoimmune thyroid disease.

rs2476601 in AP4B1-AS1;PTPN22 gene and Hodgkin Disease PMID 30194254 2018 Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.

rs2476601 in AP4B1-AS1;PTPN22 gene and Hypothyroidism PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 22493691 2012 Novel associations for hypothyroidism include known autoimmune risk loci.

rs2476601 in AP4B1-AS1;PTPN22 gene and Immune System Diseases PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

PMID 23055271 2012 Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

rs2476601 in AP4B1-AS1;PTPN22 gene and Latent Autoimmune Diabetes in Adults PMID 30254083 2018 First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes.

rs2476601 in AP4B1-AS1;PTPN22 gene and Lupus Erythematosus, Systemic PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

PMID 19838195 2009 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.

PMID 27193031 2017 A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.

PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

PMID 27399966 2016 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.

rs2476601 in AP4B1-AS1;PTPN22 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2476601 in AP4B1-AS1;PTPN22 gene and Multiple Sclerosis PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

rs2476601 in AP4B1-AS1;PTPN22 gene and Myasthenia Gravis PMID 23055271 2012 Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

rs2476601 in AP4B1-AS1;PTPN22 gene and Myositis PMID 26362759 2016 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.

PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

rs2476601 in AP4B1-AS1;PTPN22 gene and Neutrophil count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2476601 in AP4B1-AS1;PTPN22 gene and Polymyositis PMID 26362759 2016 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.

rs2476601 in AP4B1-AS1;PTPN22 gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs2476601 in AP4B1-AS1;PTPN22 gene and Rheumatoid Arthritis PMID 23143596 2012 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

PMID 30891314 2019 Studying the effects of haplotype partitioning methods on the RA-associated genomic results from the North American Rheumatoid Arthritis Consortium (NARAC) dataset.

PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.

PMID 24449572 2014 Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.

PMID 24532676 2015 High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.

PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

PMID 27193031 2017 A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.

PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

PMID 20453842 2010 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.

PMID 22446963 2012 Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

rs2476601 in AP4B1-AS1;PTPN22 gene and Systemic Scleroderma PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

rs2476601 in AP4B1-AS1;PTPN22 gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs2476601 in AP4B1-AS1;PTPN22 gene and Vitiligo PMID 20410501 2010 Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.

PMID 22561518 2012 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

PMID 21326295 2011 Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.

PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

rs2476601 in AP4B1-AS1;PTPN22 gene and White Blood Cell Count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.