rs11657479

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GWAS Catalog Trait Associations (1)

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

interleukin-22 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.05
p 2.0e-14
N 47,745
Large GWAS
European
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Research that mentions this SNP (1)

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Polymorphisms in TBX21 and STAT4 increase the risk of systemic sclerosis: Evidence of possible gene–gene interaction and alterations in Th1/Th2 cytokines
AssociationN=6,784Pravitt Gourh et al.(2009)· Arthritis &amp; Rheumatism

Two independent candidate gene association studies identified SNPs in TBX21 and STAT4 as significant risk factors for systemic sclerosis in North American whites. TBX21 rs11650354 (TT genotype) conferred 3.37-fold increased risk in recessive mode (P=1.4×10⁻¹⁵, combined N=902 cases/4,745 controls), while STAT4 rs11889341 A allele increased risk 1.29-fold in dominant mode (P=2.4×10⁻⁵, combined N=1,039 cases/3,322 controls). Gene-gene interaction analysis revealed synergistic effects on SSc susceptibility with altered Th1/Th2 cytokine profiles.

Traits studied:Systemic sclerosisSystemic sclerosis (diffuse cutaneous)Systemic sclerosis (limited cutaneous)Systemic sclerosis anti-RNA polymerase III antibody positiveSystemic sclerosis anti-topoisomerase I antibody positiveSystemic sclerosis anticentromere antibody positiveSystemic sclerosis with pulmonary fibrosis
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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