rs11101729
This is a upstream gene variant variant in the PAOX gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
metabolite measurement
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 A
OR 0.30
p 2.0e-35
N 4,840
Large GWAS
European
(N(1) + N(8))-acetylspermidine 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 0.35
p 1.0e-11
N 2,433
Large GWAS
multi-ancestry
cerebrospinal fluid composition attribute, acisoga 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 0.06
p 2.0e-11
N 2,602
Large GWAS
European
About PAOX
Enables polyamine oxidase activity. Involved in polyamine metabolic process and positive regulation of spermidine biosynthetic process. Predicted to be located in cytosol and peroxisomal matrix. Predicted to be active in cytoplasm. Implicated in lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]
View all PAOX variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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