rs45563939

This is a upstream gene variant variant in the ERGIC3 gene.

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GWAS Catalog Trait Associations (5)

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

non-high density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.03
p 2.0e-31
N 1,320,016
Large GWAS
European

phospholipids in small VLDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 4.0e-13
N 450,015
Large GWAS
multi-ancestry

total lipids in small VLDL

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry

About ERGIC3

Involved in endoplasmic reticulum to Golgi vesicle-mediated transport and positive regulation of intracellular protein transport. Located in membrane. Part of retrograde transporter complex, Golgi to ER. Biomarker of lung adenocarcinoma. [provided by Alliance of Genome Resources, Jul 2025]

View all ERGIC3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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