rs847

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GWAS Catalog Trait Associations (3)

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

atopic eczema

Sliz E et al. “Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis.” The Journal of Allergy and Clinical Immunology 149(3):1105-1112.e9 (2022)
Allele T
OR 1.10
p 4.0e-17
N 796,661
Large GWAS
European

erythematosquamous dermatosis

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 T
OR 0.08
p 5.0e-14
N 607,207
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Evaluation of interleukin 13 polymorphisms in systemic sclerosis
AssociationN=277Brigitte Granel et al.(2006)· Immunogenetics

This case-control study evaluated four IL13 gene polymorphisms (rs1800925, rs847, rs20541, and rs2243204) in 107 systemic sclerosis (SSc) patients and 170 controls. Two IL13 polymorphisms were associated with SSc: rs1800925 (IL13-1055) and rs2243204 showed associations in both total and diffuse cutaneous SSc populations (p=0.03-0.04). The rs2243204 T allele was more frequent in SSc patients overall (OR=2.3, 95% CI 1.21-4.38) and in diffuse cutaneous SSc (OR=2.95, 95% CI 1.35-6.49), suggesting IL13 polymorphisms may contribute to SSc susceptibility and phenotypic expression.

Traits studied:Diffuse cutaneous systemic sclerosisLimited cutaneous systemic sclerosisSkin fibrosisSystemic sclerosis
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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