rs799158

This is a intron variant variant in the MLXIPL gene.

GWAS Catalog Trait Associations (12)

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

triglyceride measurement

Koskeridis F et al. Pleiotropic genetic architecture and novel loci for C-reactive protein levels. Nature Communications 13(1):6939 (2022)
Allele T
OR 0.10
p 7.0e-55
N 361,194
Large GWAS
European

low density lipoprotein cholesterol measurement

Koskeridis F et al. Pleiotropic genetic architecture and novel loci for C-reactive protein levels. Nature Communications 13(1):6939 (2022)
Allele T
OR 0.03
p 2.0e-24
N 361,194
Large GWAS
European

alkaline phosphatase measurement

Allele C
OR 0.04
p 1.0e-19
N 394,642
Large GWAS
European

interleukin-1 receptor-like 2 measurement

Allele C
OR 0.09
p 1.0e-14
N 47,745
Large GWAS
European

high density lipoprotein cholesterol measurement

Koskeridis F et al. Pleiotropic genetic architecture and novel loci for C-reactive protein levels. Nature Communications 13(1):6939 (2022)
Allele T
OR 0.05
p 1.0e-12
N 361,194
Large GWAS
European

fatty acid amount

Allele T
OR
p 9.0e-12
N 239,268
Large GWAS
European

HMG CoA reductase inhibitor use measurement

Allele T
OR 0.08
p 8.0e-9
N 290,385
Major Consortium StudyLarge GWAS
European
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.08
p 8.0e-9
N 469,111
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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