rs12720359

This variant is located in the TYK2 gene.

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GWAS Catalog Trait Associations (3)

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

low density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele G
OR 0.06
p 1.0e-37
N 1,320,016
Large GWAS
European
Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)
Allele G
OR 0.04
p 7.0e-9
N 269,545
Major Consortium StudyLarge GWAS
European

total cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele G
OR 0.05
p 6.0e-31
N 1,320,016
Large GWAS
European

non-high density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele G
OR 0.06
p 4.0e-30
N 1,320,016
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
2 submitters1 publication
View on ClinVar →

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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