rs34725611

This is a intron variant variant 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.

psoriasis vulgaris

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.16

p 4.0e-13

N 655,669

Large GWAS

multi-ancestry

psoriasis

Liu S et al. “Novel genetic insight for psoriasis: integrative genome-wide analyses in 863 080 individuals and proteome-wide Mendelian randomization.” Briefings in Bioinformatics 26(1) (2024)

Allele A

OR 0.12

p 2.0e-12

N 863,080

Large GWAS

European

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 A

OR 0.03

p 4.0e-14

N 369,405

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

not specified

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]