rs1042523

This is a synonymous variant in the PCK1 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (24)

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

triglycerides 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 G
OR 0.02
p 8.0e-15
N 450,015
Large GWAS
multi-ancestry

phospholipids in large 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 G
OR 0.01
p 3.0e-13
N 450,015
Large GWAS
multi-ancestry

concentration of large VLDL particles measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 4.0e-13
N 450,015
Large GWAS
multi-ancestry

concentration of very large VLDL particles measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 7.0e-13
N 450,015
Large GWAS
multi-ancestry

triglyceride measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 1.0e-12
N 450,015
Large GWAS
multi-ancestry

triglycerides in medium 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 G
OR 0.01
p 1.0e-12
N 450,015
Large GWAS
multi-ancestry

free cholesterol in large 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 G
OR 0.01
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry

total lipids in large VLDL

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry

total lipids in very large 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 G
OR 0.01
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry

triglycerides in very large 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 G
OR 0.01
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
5 submitters2 publications

Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCKDC)

View on ClinVar →

About PCK1

This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]

View all PCK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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