rs2011614

This is a intron variant variant in the CPD gene.

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GWAS Catalog Trait Associations (1)

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

high density lipoprotein cholesterol measurement

Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)
Allele G
OR 0.01
p 4.0e-13
N 403,943
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 9.0e-10
N 390,103
Large GWAS
multi-ancestry
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele G
OR 0.02
p 3.0e-8
N 361,194
Large GWAS
European

About CPD

The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008]

View all CPD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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