rs13318853

This is a intron variant variant in the CPB1 gene.

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GWAS Catalog Trait Associations (2)

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

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)

Allele G

OR 0.26

p 1.0e-19

N 3,200

Large GWAS

European

carboxypeptidase B measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele A

OR 0.26

p 2.0e-18

N 3,301

Large GWAS

European

About CPB1

Three different procarboxypeptidases A and two different procarboxypeptidases B have been isolated. The B1 and B2 forms differ from each other mainly in isoelectric point. Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum marker for acute pancreatitis and dysfunction of pancreatic transplants. It is not elevated in pancreatic carcinoma. [provided by RefSeq, Jul 2008]

View all CPB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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