rs4840568

This is a regulatory region variant variant in the BLK gene.

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GWAS Catalog Trait Associations (1)

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

total blood protein measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.03
p 4.0e-33
N 448,242
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Germline variation in the 3′‐untranslated region of the POU2AF1 gene is associated with susceptibility to lymphoma
FunctionalN=114Kan Zhai et al.(2017)· Molecular Carcinogenesis

This study identified and validated three blood-based gene expression biomarkers (POU2AF1, TCL1A, and BLK) that predict bronchiolitis obliterans syndrome (BOS) development in lung transplant recipients more than 6 months before clinical diagnosis. Using microarray profiling in 107 samples (89 for discovery, 25 for validation), the three genes showed areas under the curve of 0.83, 0.77, and 0.78 respectively with p-values < 0.01 in Kaplan-Meier survival analysis, providing a non-invasive blood signature for risk stratification.

Traits studied:Bronchiolitis obliterans syndromeChronic lung allograft dysfunctionLung transplantation outcome
PubMedDOIMetascience Observatory

About BLK

This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]

View all BLK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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