rs3194051

This is a protein-altering variant in the IL7R gene.

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GWAS Catalog Trait Associations (2)

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

platelet-to-lymphocyte ratio

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)

Allele A

OR —

p 2.0e-39

N 234,552

Large GWAS

European

ulcerative colitis

Anderson CA et al. “Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.” Nature Genetics 43(3):246-52 (2011)

Allele G

OR 1.07

p 4.0e-8

N 26,405

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign★★★★

10 submitters4 publications

Immunodeficiency 104; not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Study of the association between the CAPSL-IL7R locus and type 1 diabetes

AssociationN=2,106Santiago JL et al.(2008)· Diabetologia

This case-control association study replicates the CAPSL-IL7R locus association with type 1 diabetes in Spanish (301 cases, 646 controls) and Dutch (429 cases, 720 controls) cohorts. The CAPSL rs1445898 TT genotype confers protection (pooled Mantel-Haenszel OR 0.71, p=0.005), with stronger protective effect in early-onset patients (OR 0.26, p=0.001). IL7R rs6897932 TT genotype also shows protection in early-onset cases (OR 0.18, p=0.02).

Traits studied:Type 1 diabetes

PubMed DOI Metascience Observatory

About IL7R

The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]