rs13226650

This is a regulatory region variant variant in the MLXIPL gene.

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GWAS Catalog Trait Associations (11)

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

phospholipids: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 A
OR 0.06
p 2.0e-36
N 136,016
Large GWAS
multi-ancestry

cholesteryl esters: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 A
OR 0.06
p 7.0e-29
N 136,016
Large GWAS
multi-ancestry

cholesterol: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 A
OR 0.06
p 5.0e-27
N 136,016
Large GWAS
multi-ancestry

level of coagulation factor VII in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.06
p 2.0e-24
N 47,745
Large GWAS
European

urate measurement

Tin A et al. “Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.” Nature Genetics 51(10):1459-1474 (2019)
Allele A
OR 0.05
p 1.0e-23
N 288,649
Large GWAS
European

triglyceride measurement, depressive symptom measurement

Bentley AR et al. “Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids.” Translational Psychiatry 15(1):207 (2025)
Allele A
OR —
β 0.006
p 4.0e-15
N 15,949
Large GWAS
Hispanic or Latin American

free cholesterol:total lipids ratio, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 8.0e-15
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 A
OR 0.22
p 2.0e-13
N 349,222
Large GWAS
European

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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