rs35332062

This is a protein-altering variant in the MLXIPL gene.

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GWAS Catalog Trait Associations (19)

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

serum gamma-glutamyl transferase measurement

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele A
OR 0.07
p 4.0e-48
N 288,127
Large GWAS
East Asian

Abnormality of the skeletal system

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 0.02
p 4.0e-28
N 394,642
Large GWAS
European

level of adhesion G-protein coupled receptor D1 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 A
OR 0.07
p 1.0e-20
N 47,745
Large GWAS
European

beta-defensin 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.19
p 4.0e-20
N 10,708
Large GWAS
European

plasma protease C1 inhibitor 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 0.07
p 5.0e-18
N 47,745
Large GWAS
European

ficolin-1 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 0.06
p 5.0e-13
N 47,745
Large GWAS
European

triacylglycerol 52:3 measurement

Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele A
OR 0.16
p 3.0e-10
N 7,173
Large GWAS
European

testosterone measurement

Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele A
OR —
β 0.000
p 1.0e-9
N 158,000
Major Consortium StudyLarge 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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