rs2254537

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

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GWAS Catalog Trait Associations (5)

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

apolipoprotein A 1 measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 5.0e-21
N 136,016
Large GWAS
multi-ancestry

HDL cholesterol change measurement, physical activity

Kilpeläinen TO et al. “Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.” Nature Communications 10(1):376 (2019)
Allele A
OR —
p 2.0e-16
N 120,979
Large GWAS
multi-ancestry

total cholesterol measurement, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 1.0e-12
N 136,016
Large GWAS
multi-ancestry

esterified cholesterol measurement, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 4.0e-12
N 136,016
Large GWAS
multi-ancestry

About GPAM

This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]

View all GPAM variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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