rs13240994

This is a intron variant variant in the MLXIPL gene.

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GWAS Catalog Trait Associations (22)

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

total lipids in small VLDL

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.09
p 5.0e-64
N 136,016
Large GWAS
multi-ancestry

free cholesterol in small VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.08
p 7.0e-58
N 136,016
Large GWAS
multi-ancestry

triglycerides in small HDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.08
p 2.0e-53
N 136,016
Large GWAS
multi-ancestry

free cholesterol in large HDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.07
p 2.0e-37
N 136,016
Large GWAS
multi-ancestry

cholesteryl esters in medium VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.07
p 2.0e-36
N 136,016
Large GWAS
multi-ancestry

total cholesterol measurement, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 5.0e-34
N 136,016
Large GWAS
multi-ancestry

triglycerides:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 3.0e-33
N 136,016
Large GWAS
multi-ancestry

familial hyperlipidemia

Trinder M et al. “Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia.” Atherosclerosis 340:35-43 (2022)
Allele T
OR 0.17
p 4.0e-32
N 349,222
Large GWAS
European

total cholesterol in small VLDL

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 7.0e-30
N 136,016
Large GWAS
multi-ancestry

apolipoprotein A 1 measurement, apolipoprotein B measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.05
p 4.0e-21
N 136,016
Large GWAS
multi-ancestry

About MLXIPL

This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

View all MLXIPL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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