rs144330743
This variant is located in the PM20D2 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.
metabolite measurement
Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)
Allele A
OR 0.42
p 8.0e-25
N 2,466
Large GWAS
multi-ancestry
N-acetylcarnosine measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.39
p 1.0e-24
N 9,181
Large GWAS
multi-ancestry
About PM20D2
Enables dipeptidase activity and identical protein binding activity. Acts upstream of or within proteolysis and regulation of protein metabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all PM20D2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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