rs6602116

This variant is located in the PTER gene.

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GWAS Catalog Trait Associations (3)

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

serum metabolite level

Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)

Allele G

OR 0.23

p 1.0e-24

N 3,926

Large GWAS

multi-ancestry

N-acetyl-beta-alanine measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)

Allele A

OR 0.15

p 1.0e-23

N 9,000

Large GWAS

multi-ancestry

X-24243 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 A

OR 0.09

p 1.0e-16

N 820

Small 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]