rs9901675

This is a protein-altering variant in the CD68 gene.

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GWAS Catalog Trait Associations (5)

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

immunoglobulin J chain measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.12
p 6.0e-20
N 47,745
Large GWAS
European

CD5 antigen-like measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.11
p 9.0e-20
N 47,745
Large GWAS
European

cathepsin L1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.10
p 3.0e-17
N 47,745
Large GWAS
European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.21
p 5.0e-14
N 10,708
Large GWAS
European
He B et al. “Genome-wide pQTL analysis of protein expression regulatory networks in the human liver.” Bmc Biology 18(1):97 (2020)
Allele A
OR —
β 0.034
p 2.0e-10
N 287
Small GWAS
multi-ancestry

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.03
p 2.0e-10
N 472,730
Large GWAS
East Asian

About CD68

This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]

View all CD68 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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