rs9621

This is a protein-altering variant in the CEACAM5 gene.

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GWAS Catalog Trait Associations (2)

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

serum carcinoembryonic antigen measurement

Olafsson S et al. “Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.” Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 29(1):225-235 (2020)
Allele A
OR 0.71
p 5.0e-201
N 22,309
Large GWAS
European

level of carcinoembryonic antigen-related cell adhesion molecule 5 in blood

Kalnapenkis A et al. “Genetic determinants of plasma protein levels in the Estonian population.” Scientific Reports 14(1):7694 (2024)
Allele A
OR 1.04
p 3.0e-13
N 488
Small GWAS
European

About CEACAM5

This gene encodes a cell surface glycoprotein that represents the founding member of the carcinoembryonic antigen (CEA) family of proteins. The encoded protein is used as a clinical biomarker for gastrointestinal cancers and may promote tumor development through its role as a cell adhesion molecule. Additionally, the encoded protein may regulate differentiation, apoptosis, and cell polarity. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

View all CEACAM5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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