rs11101730
This is a upstream gene variant variant in the PAOX gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
(N(1) + N(8))-acetylspermidine measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.39
p 2.0e-37
N 6,136
Large GWAS
European
X-24020 measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.33
p 7.0e-36
N 8,809
Large GWAS
European
level of N(1)-acetylspermidine in blood
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.42
p 1.0e-21
N 4,992
Large GWAS
multi-ancestry
X-03056--N-[3- 2-Oxopyrrolidin-1-yl propyl]acetamide measurement
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR —
β 0.055
p 3.0e-13
N 7,812
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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