rs2455069

This is a variant in the CD33 gene that changes a arginine to an glycine.

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GWAS Catalog Trait Associations (3)

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

CD33 molecule amount

Png G et al. “Mapping the serum proteome to neurological diseases using whole genome sequencing.” Nature Communications 12(1):7042 (2021)
Allele A
OR 1.21
p —
N 2,917
Large GWAS
European

myeloid leukocyte count

Orrù V et al. “Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.” Nature Genetics 52(10):1036-1045 (2020)
Allele G
OR 0.39
p 1.0e-32
N 1,857
Large GWAS
European

triglyceride measurement

Tabassum R et al. “Genetic architecture of human plasma lipidome and its link to cardiovascular disease.” Nature Communications 10(1):4329 (2019)
Allele G
OR 0.19
p 9.0e-9
N 2,045
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About CD33

Enables protein phosphatase binding activity; protein tyrosine phosphatase activator activity; and sialic acid binding activity. Involved in several processes, including immune response-regulating signaling pathway; negative regulation of cytokine production; and negative regulation of monocyte activation. Located in Golgi apparatus; external side of plasma membrane; and peroxisome. [provided by Alliance of Genome Resources, Jul 2025]

View all CD33 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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