rs532747
This variant is located in the PYGM gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
valine measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 3.0e-19
N 450,015
Large GWAS
multi-ancestry
amino acid measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 2.0e-14
N 450,015
Large GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
11 submitters2 publicationsnot specified; Glycogen storage disease, type V; not provided
View on ClinVar →About PYGM
This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
View all PYGM variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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