rs6679356

This is a intron variant variant in the IL12RB2 gene.

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GWAS Catalog Trait Associations (3)

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

systemic lupus erythematosus

Khunsriraksakul C et al. “Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.” Nature Communications 14(1):668 (2023)
Allele C
OR 0.09
p 8.0e-17
N 718,496
Large GWAS
multi-ancestry

primary biliary cirrhosis

Cordell HJ et al. “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.” Journal of Hepatology 75(3):572-581 (2021)
Allele C
OR 0.44
p 7.0e-63
N 24,510
Meta-analysisLarge GWAS
European
Cordell HJ et al. “International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.” Nature Communications 6:8019 (2015)
Allele C
OR 1.52
p 7.0e-28
N 13,239
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Association study between interleukin-12 receptor β1/β2 genes and allergic rhinitis in the Chinese Han population
AssociationN=1,292Ping Wei et al.(2015)· European Archives of Oto-Rhino-Laryngology

A case-control association study in 543 Chinese Han allergic rhinitis (AR) patients and 749 healthy controls examined four SNPs in IL-12 receptor genes. The homozygous GG genotype of rs438421 in IL-12Rβ1 was significantly increased in AR patients (OR=1.667, p=2.10×10^-5), while the heterozygous AG genotype was protective (OR=0.620, p=1.02×10^-4). No significant associations were found for the three IL-12Rβ2 SNPs (rs3790565, rs3790567, rs6679356) with AR.

Traits studied:Allergic rhinitis
PubMedDOIMetascience Observatory

About IL12RB2

The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. Several transcript variants encoding different isoforms and non-protein coding transcripts have been found for this gene. [provided by RefSeq, Apr 2012]

View all IL12RB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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