rs13246993

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

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GWAS Catalog Trait Associations (10)

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

triglyceride measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.14
p 8.0e-139
N 153,950
Large GWAS
East Asian
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele A
OR 0.13
p 4.0e-54
N 146,492
Large GWAS
East Asian

gout

Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele A
OR 0.88
p 2.0e-58
N 2,206,883
Large GWAS
European
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele A
OR 0.10
p 4.0e-16
N 1,485,233
Meta-analysisLarge GWAS
multi-ancestry

glutamine measurement

Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)
Allele G
OR 0.07
p 2.0e-33
N 117,944
Large GWAS
European
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele G
OR 0.07
p 6.0e-30
N 131,686
Large GWAS
multi-ancestry

lean body mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele A
OR 0.02
p 6.0e-15
N 337,739
Large GWAS
European

suprabasin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 4.0e-12
N 47,745
Large GWAS
European

protocadherin-9 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 5.0e-12
N 47,745
Large GWAS
European

metabolic syndrome

Ho CY et al. “A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.” Nutrients 16(1) (2023)
Allele G
OR 0.12
p 1.0e-10
N 107,230
Large GWAS
East Asian

triglycerides to total lipids in chylomicrons and extremely large 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 A
OR 0.03
p 2.0e-9
N 203,300
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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