rs139612538
This is a intron variant variant in the ESCO1 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.
level of Phosphatidylcholine (16:1_18:2) in blood serum
Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele T
OR 0.72
p 7.0e-16
N 7,165
Large GWAS
European
lysophosphatidylcholine measurement
Tabassum R et al. “Genetic architecture of human plasma lipidome and its link to cardiovascular disease.” Nature Communications 10(1):4329 (2019)
Allele T
OR 0.99
p 2.0e-10
N 2,045
Large GWAS
European
About ESCO1
Enables identical protein binding activity; protein-lysine-acetyltransferase activity; and zinc ion binding activity. Involved in peptidyl-lysine acetylation; post-translational protein acetylation; and regulation of DNA replication. Located in chromatin. [provided by Alliance of Genome Resources, Jul 2025]
View all ESCO1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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