rs76119360
This variant is located in the PTER gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
N-acetyl-beta-alanine measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 1.41
p 2.0e-60
N 14,296
Large GWAS
European
▶ClinVar annotation
Likely Benign★★★☆
2 submitters2 publicationsAbout PTER
Enables N-acetyltaurine hydrolase activity. Involved in epithelial cell differentiation and taurine metabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]
View all PTER variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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