rs79624003

This is a intron variant variant in the MLXIPL gene.

GWAS Catalog Trait Associations (15)

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

alkaline phosphatase measurement

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.04
p 4.0e-31
N 463,178
Large GWAS
multi-ancestry

monocyte percentage of leukocytes

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.04
p 4.0e-31
N 408,112
Large GWAS
European

alcohol drinking, high density lipoprotein cholesterol measurement

de Vries PS et al. Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele G
OR
p 2.0e-25
N 127,326
Large GWAS
multi-ancestry

neutrophil percentage of leukocytes

Allele G
OR 0.02
p 3.0e-14
N 394,642
Large GWAS
European

alcohol consumption quality, high density lipoprotein cholesterol measurement

de Vries PS et al. Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele G
OR
p 3.0e-21
N 71,394
Large GWAS
multi-ancestry

fatty acid amount

Allele G
OR
p 3.0e-16
N 128,922
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…