rs626283

This is a regulatory region variant variant in the MBOAT7 gene.

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GWAS Catalog Trait Associations (14)

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

1-palmitoyl-2-linoleoyl-GPI (16:0/18:2) measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele C
OR 0.22
p 7.0e-77
N 14,296
Large GWAS
European

acid sphingomyelinase-like phosphodiesterase 3a measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.05
p 2.0e-33
N 47,745
Large GWAS
European

N-acylethanolamine-hydrolyzing acid amidase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.04
p 8.0e-29
N 47,745
Large GWAS
European

level of protein disulfide isomerase CRELD2 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 C
OR 0.04
p 5.0e-15
N 47,745
Large GWAS
European

1-palmitoyl-2-arachidonoyl-GPI (16:0/20:4) measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele G
OR 0.15
p 8.0e-15
N 6,136
Large GWAS
European

1-oleoyl-GPI (18:1) measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele C
OR 0.11
p 1.0e-11
N 4,958
Large GWAS
European
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Research that mentions this SNP (1)

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Association Between Liver-Specific Gene Polymorphisms and Their Expression Levels With Nonalcoholic Fatty Liver Disease
ReviewLeon A. Adams et al.(2013)· Hepatology

A comprehensive review of the pathogenesis of non-alcoholic fatty liver disease (NAFLD) in children and adolescents, examining the evolution from the 'two-hit theory' to the 'multiple-hit model'. The paper discusses genetic factors including PNPLA3 rs738409 and GCKR rs1260326 polymorphisms, which together account for up to one-third of variability in liver fat content in obese children, along with contributions from MBOAT7, SAMM50, PARVB, TM6SF2, and other genes involved in lipid metabolism.

Traits studied:Fatty liverLiver fibrosisNon-alcoholic fatty liver disease (NAFLD)Non-alcoholic steatohepatitis (NASH)
PubMedDOIMetascience Observatory

About MBOAT7

This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

View all MBOAT7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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