rs55754655

This is a protein-altering variant in the AOX1 gene.

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GWAS Catalog Trait Associations (2)

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

7-methylguanine 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 A

OR 0.17

p 1.0e-31

N 14,296

Large GWAS

European

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)

Allele A

OR 0.16

p 4.0e-13

N 8,239

Large GWAS

European

Hydantoin-5-propionic acid measurement

Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)

Allele G

OR 0.17

p 5.0e-12

N 8,809

Large GWAS

European

About AOX1

Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]

View all AOX1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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