rs12002854

This is a regulatory region variant variant in the SEC16A gene.

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GWAS Catalog Trait Associations (1)

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

cholesteryl esters to total lipids in large LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele A

OR 0.02

p 2.0e-13

N 450,015

Large GWAS

multi-ancestry

About SEC16A

This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013]

View all SEC16A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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