rs706779

This is a intron variant variant in the IL2RA gene.

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GWAS Catalog Trait Associations (5)

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

hypothyroidism

Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele C
OR 0.07
p 1.0e-42
N 1,178,661
Large GWAS
European

blood protein amount

Orrù V et al. “Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.” Nature Genetics 52(10):1036-1045 (2020)
Allele C
OR 0.29
p 7.0e-31
N 3,657
Large GWAS
European

Vitiligo

Jin Y et al. “Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.” Nature Genetics 48(11):1418-1424 (2016)
Allele T
OR 1.30
p 7.0e-27
N 40,258
Large GWAS
European
Jin Y et al. “Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.” The New England Journal of Medicine 362(18):1686-97 (2010)
Allele T
OR 1.27
p 3.0e-9
N 4,021
Large GWAS
European

basal cell carcinoma

Seviiri M et al. “A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma.” Nature Communications 13(1):7650 (2022)
Allele C
OR —
p 3.0e-26
N 307,684
Large GWAS
European
Choquet H et al. “Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.” Communications Biology 7(1):33 (2024)
Allele C
OR 0.04
p 3.0e-8
N 802,297
Meta-analysisLarge GWAS
European

type 1 diabetes mellitus

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.10
p 3.0e-8
N 590,946
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Possible contribution of GSTP1 and other xenobiotic metabolizing genes to vitiligo susceptibility
AssociationN=200Mikhail M. Minashkin et al.(2013)· Archives of Dermatological Research

A candidate gene association study in 100 Russian vitiligo patients and 100 controls identified a strong novel association between GSTP1 rs1138272 (Ala114Val, OR=13.03, Bonferroni-adjusted P=0.0015) and vitiligo susceptibility. Cumulative analysis of multiple xenobiotic metabolizing genes showed that carrying higher numbers of risk alleles was associated with increased vitiligo risk (9-16 vs 3-8 alleles: OR=2.79, P=0.00063), supporting a polygenic model for vitiligo involving detoxification pathway genes.

Traits studied:Vitiligo
PubMedDOIMetascience Observatory

About IL2RA

The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have significantly elevated levels of IL2R in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020]

View all IL2RA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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