rs12589706

This is a intron variant variant in the PCNX1 gene.

GWAS Catalog Trait Associations (10)

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

cholesteryl esters to total lipids in medium VLDL percentage

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 0.01
p 5.0e-13
N 450,015
Large GWAS
multi-ancestry

cholesterol to total lipids in medium VLDL percentage

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 0.01
p 3.0e-12
N 450,015
Large GWAS
multi-ancestry

free cholesterol to total lipids in medium 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 T
OR 0.01
p 3.0e-12
N 450,015
Large GWAS
multi-ancestry

free cholesterol 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 T
OR 0.01
p 5.0e-11
N 450,015
Large GWAS
multi-ancestry

free cholesterol to total lipids in small VLDL percentage

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 0.01
p 5.0e-11
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters to total lipids in very small VLDL percentage

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 0.01
p 7.0e-11
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 0.01
p 7.0e-11
N 450,015
Large GWAS
multi-ancestry

cholesterol to total lipids in very small VLDL percentage

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 0.01
p 1.0e-10
N 450,015
Large GWAS
multi-ancestry

triglycerides to total lipids in very small VLDL percentage

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 0.01
p 1.0e-10
N 450,015
Large GWAS
multi-ancestry

cholesterol to total lipids in large HDL percentage

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 0.01
p 2.0e-10
N 450,015
Large GWAS
multi-ancestry

About PCNX1

This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]

View all PCNX1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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