rs7499358
This is a regulatory region variant variant in the ACSM2B gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
3-hydroxyisovalerate measurement, serum creatinine amount
Valo E et al. “Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function.” Nature Communications 16(1):325 (2025)
Allele A
OR 0.62
p 8.0e-22
N 8,007
Large GWAS
European
beta-hydroxyisovalerate measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.29
p 1.0e-19
N 8,978
Large GWAS
multi-ancestry
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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