rs74045047

This variant is located in the PERM1 gene.

GWAS Catalog Trait Associations (1)

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

alanine measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 8.0e-34
N 450,015
Large GWAS
multi-ancestry

About PERM1

Involved in response to muscle activity. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all PERM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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