rs1055338
This is a downstream gene variant variant in the PTER 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.
N-acetyl-beta-alanine measurement
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele C
OR 0.37
p 2.0e-42
N 8,231
Large GWAS
European
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.18
p 2.0e-13
N 9,000
Large GWAS
multi-ancestry
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele C
OR 0.15
p 4.0e-25
N 4,948
Large GWAS
European
cerebrospinal fluid composition attribute, N-acetyltaurine measurement
Wang C et al. “Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.” Nature Genetics 56(12):2685-2695 (2024)
Allele T
OR 0.05
p 8.0e-15
N 2,602
Large GWAS
European
About 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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