rs199695765

This is a stop gained variant in the CPA2 gene.

GWAS Catalog Trait Associations (1)

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

asparaginase-induced acute pancreatitis

Liu C et al. Clinical and Genetic Risk Factors for Acute Pancreatitis in Patients With Acute Lymphoblastic Leukemia. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology 34(18):2133-40 (2016)
Allele T
OR 6.60
p 2.0e-8
N 5,185
Large GWAS
multi-ancestry

About CPA2

Three different forms of human pancreatic procarboxypeptidase A have been isolated. The encoded protein represents the A2 form, which is a monomeric protein with different biochemical properties from the A1 and A3 forms. The A2 form of pancreatic procarboxypeptidase acts on aromatic C-terminal residues and is a secreted protein. [provided by RefSeq, Dec 2008]

View all CPA2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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