rs148755083

This is a splice region variant variant in the IL36RN gene.

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GWAS Catalog Trait Associations (1)

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

psoriasis 14, pustular

Zhang Q et al. “Identification of the BTN3A3 Gene as a Molecule Implicated in Generalized Pustular Psoriasis in a Chinese Population.” The Journal of Investigative Dermatology 143(8):1439-1448.e21 (2023)
Allele C
OR 8.24
p 1.0e-18
N 525
Small GWAS
East Asian
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ClinVar annotation

Pathogenic★★★☆
12 submitters12 publications

Acrodermatitis continua suppurativa of Hallopeau (PSORS14); Autoinflammatory syndrome; Generalized pustular psoriasis; IL36RN-related disorder

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About IL36RN

The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]

View all IL36RN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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