rs1047763

This is a 3 prime utr variant variant in the C1GALT1 gene.

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GWAS Catalog Trait Associations (1)

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

coronary artery disease

Jordà P et al. “Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases.” Npj Genomic Medicine 10(1):65 (2025)

Allele A

OR 5.83

p 6.0e-9

N 675,725

Large GWAS

European

About C1GALT1

The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]

View all C1GALT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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