rs17145750
This variant is located in the MLXIPL gene.
▶GWAS Catalog Trait Associations (46)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (46)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cholesteryl esters to total lipids in IDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.06
p 6.0e-122
N 450,015
Large GWAS
multi-ancestry
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele T
OR 0.08
p 1.0e-41
N 88,329
Large GWAS
European
cholesterol to total lipids in small HDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.06
p 2.0e-115
N 450,015
Large GWAS
multi-ancestry
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele T
OR 0.07
p 1.0e-28
N 88,329
Large GWAS
European
serum gamma-glutamyl transferase measurement
Ghouse J et al. “Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.” Nature Genetics 56(5):827-837 (2024)
Allele C
OR 0.02
p 2.0e-109
N 875,069
Large GWAS
European
Chambers JC et al. “Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.” Nature Genetics 43(11):1131-8 (2011)
Allele C
OR 4.50
p 3.0e-9
N 61,089
Large GWAS
multi-ancestry
cholesteryl esters to total lipids in small HDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.05
p 5.0e-87
N 450,015
Large GWAS
multi-ancestry
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele T
OR 0.06
p 6.0e-23
N 88,329
Large GWAS
European
urate measurement
Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele T
OR 0.05
p 9.0e-65
N 1,029,323
Meta-analysisLarge GWAS
multi-ancestry
cholesterol to total lipids in IDL percentage
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele T
OR 0.10
p 6.0e-61
N 88,329
Large GWAS
European
LDL particle size
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.04
p 3.0e-58
N 450,015
Large GWAS
multi-ancestry
cholesteryl esters:total lipids ratio, intermediate density lipoprotein measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.08
p 7.0e-46
N 115,082
Large GWAS
European
cholesteryl esters to total lipids in large HDL percentage
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele T
OR 0.09
p 9.0e-45
N 88,329
Large GWAS
European
triglycerides to total lipids in large LDL percentage
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele T
OR 0.08
p 3.0e-41
N 88,329
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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