rs2014355

This is a downstream gene variant variant in the ACADS gene.

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GWAS Catalog Trait Associations (8)

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

butyrylcarnitine 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 T
OR 0.87
p —
N 14,296
Large GWAS
European

ethylmalonate 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 T
OR 0.98
p —
N 14,296
Large GWAS
European

butyrylglycine measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele C
OR 0.56
p 1.0e-202
N 6,044
Large GWAS
European

metabolite measurement

Illig T et al. “A genome-wide perspective of genetic variation in human metabolism.” Nature Genetics 42(2):137-41 (2010)
Allele T
OR 0.22
p 5.0e-96
N 1,029
Large GWAS
European

methylsuccinate 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 T
OR 0.21
p 7.0e-73
N 14,296
Large GWAS
European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.22
p 2.0e-50
N 10,708
Large GWAS
European
He B et al. “Genome-wide pQTL analysis of protein expression regulatory networks in the human liver.” Bmc Biology 18(1):97 (2020)
Allele T
OR 0.30
p 8.0e-16
N 287
Small GWAS
multi-ancestry

serum metabolite level

Li Y et al. “Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.” Journal of the American Society of Nephrology : Jasn 29(5):1513-1524 (2018)
Allele C
OR 0.42
p 4.0e-27
N 1,143
Large GWAS
European

carnitine measurement

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele C
OR 6.58
p 5.0e-11
N 9,363
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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A Genome-Wide Assessment of Variability in Human Serum Metabolism
AssociationN=891Mun-Gwan Hong et al.(2013)· Human Mutation

A genome-wide association study (GWAS) of serum metabolic quantitative trait loci (mQTLs) in 891 Swedish men identified seven replicating loci (PYROXD2, FADS1, PON1, CYP4F2, UGT1A8, ACADL, and LIPC) with variants showing significant associations with metabolite levels (P = 10^-13 to 10^-91). rs4345897:A>G in PYROXD2 showed the strongest association with caprolactam (P = 2.40 × 10^-91), while rs174549:A>G in FADS1 associated with glycerolphosphocholine (P = 1.91 × 10^-30). Pathway analysis implicated genes with acyl-CoA dehydrogenase activity (ACADS, ACADM, ACAD8, ACAD10, ACAD11, ACOXL) and mQTL SNPs were enriched across GWAS catalog regions.

Traits studied:BilirubinButyrylcarnitineCaprolactamDimethylheptanoylcarnitineGlycerolphosphocholineGlycochenodeoxycholic acidHexanoylcarnitineSerum metabolitesStearoylcarnitine
PubMedDOIMetascience Observatory

About ACADS

This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]

View all ACADS variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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