rs1800556

This is a variant in the ACADS gene that changes a arginine to an tryptophan.

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GWAS Catalog Trait Associations (4)

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

ethylmalonate 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 T
OR 0.39
p 2.0e-26
N 8,172
Large GWAS
European
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.42
p 3.0e-20
N 7,930
Large GWAS
multi-ancestry

butyrylcarnitine (C4) 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 T
OR 0.29
p 2.0e-14
N 8,111
Large GWAS
European

serum metabolite level

Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele C
OR 0.48
p 8.0e-12
N 3,926
Large GWAS
Hispanic or Latin American
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ClinVar annotation

Likely Benign★★★☆
11 submitters6 publications

Deficiency of butyryl-CoA dehydrogenase (ACADSD)

View on ClinVar →
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Research that mentions this SNP (1)

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Disease variants in genomes of 44 centenarians
Case reportN=44Yun Freudenberg‐Hua et al.(2014)· Molecular Genetics &amp; Genomic Medicine

Whole genome sequencing of 44 Ashkenazi Jewish centenarians identified 216 coding variants annotated as pathogenic or likely pathogenic in ClinVar. The study found 130 rare variants (MAF <5%) reported to cause degenerative, neoplastic, and cardiac diseases with various inheritance patterns. Notably, several carriers had no clinical manifestations despite carrying variants linked to serious diseases (e.g., an APOE ε4 homozygote without Alzheimer's disease, a UBQLN2 P525S carrier without ALS). These findings suggest incomplete penetrance and reduced clinical significance for many reported disease mutations.

Traits studied:Aging and longevityAlzheimer's diseaseAmyotrophic lateral sclerosisBecker muscular dystrophyBrugada syndromeCancer/NeoplasmCardiac arrhythmiaCardiomyopathyDeafnessDementia with Lewy bodiesDiabetesDuchenne muscular dystrophyEhlers-Danlos syndromeGaucher diseaseGlaucomaHypercholesterolemiaIchthyosisKeratoconusLong QT syndromeObesityParkinson's diseasePremature ovarian failureRetinitis pigmentosa
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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