rs7499271

This is a intron variant variant in the ACSM2B gene.

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GWAS Catalog Trait Associations (1)

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

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 T

OR 0.57

p 6.0e-44

N 3,926

Large GWAS

Hispanic or Latin American

Yu B et al. “Genetic determinants influencing human serum metabolome among African Americans.” Plos Genetics 10(3):e1004212 (2014)

Allele T

OR 0.25

p 6.0e-11

N 1,260

Large GWAS

African American or Afro-Caribbean

About ACSM2B

Enables benzoate-CoA ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

View all ACSM2B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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