rs62217175

This is a intron variant variant in the ACSS1 gene.

GWAS Catalog Trait Associations (1)

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

acetate measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.07
p 3.0e-141
N 450,015
Large GWAS
multi-ancestry
Allele C
OR 0.07
p 1.0e-32
N 88,306
Large GWAS
European

About ACSS1

This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

View all ACSS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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