rs11753645

This is a regulatory region variant variant in the CD164 gene.

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GWAS Catalog Trait Associations (1)

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

clonal hematopoiesis

Wen S et al. “Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.” Nature Genetics 57(3):572-582 (2025)

Allele C

OR 0.84

p 9.0e-31

N 398,696

Major Consortium StudyLarge GWAS

European

About CD164

This gene encodes a transmembrane sialomucin and cell adhesion molecule that regulates the proliferation, adhesion and migration of hematopoietic progenitor cells. The encoded protein also interacts with the C-X-C chemokine receptor type 4 and may regulate muscle development. Elevated expression of this gene has been observed in human patients with Sezary syndrome, a type of blood cancer, and a mutation in this gene may be associated with impaired hearing. [provided by RefSeq, Oct 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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