rs117633859

This is a upstream gene variant variant in the IL23R gene.

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GWAS Catalog Trait Associations (2)

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

Vogt-Koyanagi-Harada disease

Hou S et al. “Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.” Nature Genetics 46(9):1007-11 (2014)

Allele G

OR 1.82

p 3.0e-21

N 2,783

Large GWAS

East Asian

sarcoidosis

Meguro A et al. “Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis.” Communications Biology 3(1):465 (2020)

Allele G

OR 1.87

p 2.0e-12

N 1,532

Large GWAS

multi-ancestry

About IL23R

The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner. [provided by RefSeq, Jul 2008]

View all IL23R variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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