Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
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
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
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
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
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
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
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.800 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs2476601
rs2476601
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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