rs112676812
This is a intron variant variant in the PM20D1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
DNA topoisomerase 1 measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.48
p 2.0e-69
N 47,745
Large GWAS
European
About PM20D1
Enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides. Involved in several processes, including amide biosynthetic process; amide catabolic process; and amino acid metabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]
View all PM20D1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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