rs149793040
This variant is located in the ACACB gene.
▶GWAS Catalog Trait Associations (32)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (32)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
triglyceride measurement
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.35
p 6.0e-35
N 928,679
Large GWAS
multi-ancestry
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele A
OR 0.22
p 3.0e-17
N 1,320,016
Large 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 A
OR 0.26
p 1.0e-23
N 455,659
Large GWAS
multi-ancestry
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 0.22
p 2.0e-27
N 394,642
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.38
p 2.0e-24
N 391,626
Major Consortium StudyLarge GWAS
European
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.28
p 9.0e-24
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry
Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele A
OR 0.21
p 3.0e-8
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.29
p 5.0e-10
N 115,082
Large GWAS
European
alkaline phosphatase measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.22
p 9.0e-30
N 394,642
Large GWAS
European
Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele G
OR 0.03
p 9.0e-28
N 437,438
Large GWAS
European
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.28
p 2.0e-23
N 355,891
Major Consortium StudyLarge GWAS
multi-ancestry
fatty acid amount
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele G
OR —
p 6.0e-17
N 239,268
Large GWAS
European
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.28
p 4.0e-9
N 115,006
Large GWAS
European
hematocrit
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.14
p 3.0e-14
N 394,642
Large GWAS
European
apolipoprotein A 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 G
OR 0.14
p 2.0e-13
N 394,642
Large GWAS
European
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.21
p 1.0e-12
N 323,833
Major Consortium StudyLarge GWAS
multi-ancestry
high density lipoprotein cholesterol measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.21
p 2.0e-13
N 325,634
Major Consortium StudyLarge GWAS
multi-ancestry
valine measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.33
p 2.0e-12
N 115,052
Large GWAS
European
apolipoprotein B measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.19
p 7.0e-12
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry
triglycerides:total lipids ratio, high density lipoprotein cholesterol measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.31
p 3.0e-11
N 115,082
Large GWAS
European
blood VLDL cholesterol amount
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.31
p 7.0e-11
N 115,082
Large GWAS
European
▶ClinVar annotation
Likely Benign★★★☆
2 submitters2 publicationsAbout ACACB
Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. [provided by RefSeq, Oct 2022]
View all ACACB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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