rs2680880

This variant is located in the CXCR4 gene.

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GWAS Catalog Trait Associations (3)

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

level of T-cell leukemia/lymphoma protein 1A in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 2.0e-13
N 47,745
Large GWAS
European

gut microbiome measurement

Kurilshikov A et al. “Large-scale association analyses identify host factors influencing human gut microbiome composition.” Nature Genetics 53(2):156-165 (2021)
Allele A
OR 6.47
p 1.0e-10
N 18,340
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

not provided; not specified

View on ClinVar →

About CXCR4

This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

View all CXCR4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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