rs1772143
This is a intron variant variant in the PM20D1 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
monocyte count
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.02
p 8.0e-26
N 521,594
Large GWAS
European
cortical thickness
van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele A
OR 10.11
p 5.0e-24
N 33,748
Large GWAS
European
brain volume
Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele A
OR 0.09
p 4.0e-19
N 22,133
Major Consortium StudyLarge GWAS
European
neuroimaging measurement
Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele A
OR 0.07
p 2.0e-14
N 21,282
Major Consortium StudyLarge 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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