rs3024971

This is a downstream gene variant variant in the STAT6 gene.

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GWAS Catalog Trait Associations (12)

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

eosinophil percentage of leukocytes

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 1.0e-33
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.03
p 2.0e-17
N 408,112
Large GWAS
European

asthma

Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele G
OR 0.09
p 2.0e-33
N 1,800,785
Meta-analysisLarge GWAS
multi-ancestry
Valette K et al. “Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank.” Communications Biology 4(1):700 (2021)
Allele G
OR 0.11
p 5.0e-26
N 408,422
Major Consortium StudyLarge GWAS
European
Jia G et al. “Discerning asthma endotypes through comorbidity mapping.” Nature Communications 13(1):6712 (2022)
Allele G
OR 0.90
p 6.0e-19
N 305,098
Large GWAS
multi-ancestry
Han Y et al. “Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma.” Nature Communications 11(1):1776 (2020)
Allele G
OR 1.12
p 3.0e-32
N 303,859
Large GWAS
European
Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele G
OR —
p 1.0e-28
N 281,699
Major Consortium StudyLarge GWAS
European

asthma, Eczematoid dermatitis, allergic rhinitis

Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele T
OR 1.11
p 5.0e-30
N 346,545
Major Consortium StudyLarge GWAS
European

Eczematoid dermatitis, allergic rhinitis

Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele T
OR 1.11
p 7.0e-25
N 323,807
Major Consortium StudyLarge GWAS
European

interleukin-5 receptor subunit alpha measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.06
p 1.0e-15
N 47,745
Large GWAS
European

childhood onset asthma

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.11
p 1.0e-12
N 601,193
Large GWAS
multi-ancestry

allergic disease, age at onset

Ferreira MAR et al. “Age-of-onset information helps identify 76 genetic variants associated with allergic disease.” Plos Genetics 16(6):e1008725 (2020)
Allele T
OR 0.04
p 3.0e-10
N 117,130
Large GWAS
European

allergic disease

Ferreira MAR et al. “Age-of-onset information helps identify 76 genetic variants associated with allergic disease.” Plos Genetics 16(6):e1008725 (2020)
Allele T
OR 0.04
p 6.0e-10
N 477,968
Large GWAS
European

urticaria

Kristjansson RP et al. “Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria.” Communications Biology 6(1):703 (2023)
Allele G
OR 0.91
p 1.0e-9
N 1,270,695
Large GWAS
multi-ancestry

Antihistamine use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.11
p 6.0e-9
N 330,362
Large GWAS
multi-ancestry

About STAT6

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

View all STAT6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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