rs9581943

This is a regulatory region variant variant in the PDX1 gene.

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GWAS Catalog Trait Associations (4)

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

chymotrypsin-C measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.04
p 8.0e-16
N 47,745
Large GWAS
European

carboxypeptidase A2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.04
p 2.0e-15
N 47,745
Large GWAS
European

pancreatic carcinoma

Klein AP et al. “Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer.” Nature Communications 9(1):556 (2018)
Allele A
OR 1.15
p 5.0e-14
N 21,536
Meta-analysisLarge GWAS
European
Wolpin BM et al. “Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.” Nature Genetics 46(9):994-1000 (2014)
Allele A
OR 1.15
p 2.0e-9
N 6,785
Large GWAS
European

level of carboxypeptidase A1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 9.0e-13
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →

About PDX1

The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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