rs144510878

This variant is located in the SIAE gene.

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GWAS Catalog Trait Associations (1)

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

sialate O-acetylesterase 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 1.60

p 5.0e-92

N 47,745

Large GWAS

European

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ClinVar annotation

Uncertain Significance★☆☆☆

2 submitters4 publications

Autoimmune disease, susceptibility to, 6; not provided

View on ClinVar →

About SIAE

This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]

View all SIAE variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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