rs9924150

This is a protein-altering variant in the ACSM2A gene.

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GWAS Catalog Trait Associations (8)

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

indoleacetoylcarnitine 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 G
OR 0.60
p 8.0e-122
N 7,777
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 G
OR 0.53
p 6.0e-23
N 1,869
Large GWAS
multi-ancestry

X-11478 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 G
OR 0.33
p 3.0e-41
N 8,242
Large GWAS
European

indoleacetylglutamine measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.39
p 4.0e-41
N 6,777
Large GWAS
multi-ancestry
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele G
OR 0.42
p 5.0e-40
N 6,161
Large GWAS
European

indole-3-propionate measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.29
p 1.0e-35
N 10,142
Large GWAS
multi-ancestry

level of indole-3-butyric acid in blood

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.43
p 1.0e-15
N 1,721
Large GWAS
multi-ancestry

3-hydroxyhexanoate 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 G
OR 0.19
p 4.0e-15
N 8,268
Large GWAS
European

X-18921 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 G
OR 0.19
p 9.0e-14
N 8,257
Large GWAS
European

X-21319 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 G
OR 0.19
p 2.0e-13
N 8,109
Large GWAS
European

About ACSM2A

This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, through the transfer of acyl-CoA. These enzymes also participate in the glycine conjugation pathway in the detoxification of xenobiotics such as benzoate and ibuprofen. Expression levels of this gene in the kidney may be correlated with kidney function. This gene and its paralog ACSM2B (Gene ID: 348158), both present on chromosome 16, likely arose from a chromosomal duplication event. [provided by RefSeq, May 2017]

View all ACSM2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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