rs11085727

This is a intron variant variant in the TYK2 gene.

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GWAS Catalog Trait Associations (10)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

neutrophil count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.03
p 1.0e-20
N 261,847
Major Consortium StudyLarge GWAS
European

Thyroid preparation use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele T
OR 0.08
p 1.0e-15
N 305,582
Major Consortium StudyLarge GWAS
European

psoriatic arthritis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.19
p 3.0e-11
N 450,620
Major Consortium StudyLarge GWAS
European

neutrophil percentage of leukocytes

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.02
p 4.0e-10
N 171,542
Large GWAS
European

COVID-19

“A first update on mapping the human genetic architecture of COVID-19.” Nature 608(7921):E1-E10 (2022)
Allele T
OR 1.09
p 3.0e-14
N 2,861,299
Large GWAS
multi-ancestry
Pairo-Castineira E et al. “Genetic mechanisms of critical illness in COVID-19.” Nature 591(7848):92-98 (2021)
Allele T
OR 1.20
p 1.0e-13
N 1,170,871
Large GWAS
multi-ancestry

COVID-19, osteoarthritis

Huang YX et al. “A shared genetic contribution to osteoarthritis and COVID-19 outcomes: a large-scale genome-wide cross-trait analysis.” Frontiers in Immunology 14:1184958 (2023)
Allele T
OR 0.01
p 1.0e-8
N 1,703,231
Large GWAS
European

lymphocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 2.0e-12
N 417,277
Major Consortium StudyLarge GWAS
multi-ancestry

respiratory failure, COVID-19

Degenhardt F et al. “Detailed stratified GWAS analysis for severe COVID-19 in four European populations.” Human Molecular Genetics 31(23):3945-3966 (2022)
Allele T
OR 1.11
p 1.0e-9
N 2,641,520
Large GWAS
European, NR

About TYK2

This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]

View all TYK2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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