rs2296618

This variant is located in the PTPRC gene.

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GWAS Catalog Trait Associations (5)

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

eosinophil count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.04

p 3.0e-35

N 408,112

Large GWAS

European

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 G

OR —

p 1.0e-15

N 234,763

Large GWAS

European

basophil count, eosinophil count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele G

OR 0.04

p 5.0e-12

N 171,771

Large GWAS

European

asthma

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 0.07

p 6.0e-12

N 394,626

Large GWAS

European

Olafsdottir TA et al. “Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.” Nature Communications 11(1):393 (2020)

Allele G

OR 1.06

p 7.0e-10

N 771,388

Large GWAS

European

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 0.06

p 1.0e-10

N 408,422

Major Consortium StudyLarge 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 0.09

p 4.0e-10

N 601,193

Large GWAS

multi-ancestry

Inhalant adrenergic use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)

Allele G

OR 0.08

p 3.0e-9

N 176,445

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

About PTPRC

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012]

rs2296618

GWAS Catalog Trait Associations (5)

eosinophil count

basophil count, eosinophil count

asthma

childhood onset asthma

Inhalant adrenergic use measurement

ClinVar annotation

About PTPRC

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