rs3753526

This is a synonymous variant in the SOAT1 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (2)

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

neuroimaging measurement

Bhatt RR et al. “The Genetic Architecture of the Human Corpus Callosum and its Subregions.” Nature Communications 16(1):9708 (2025)
Allele C
OR 0.73
p 2.0e-9
N 46,685
Large GWAS
European

About SOAT1

The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]

View all SOAT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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