rs541856133

This variant is located in the CEL gene.

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GWAS Catalog Trait Associations (1)

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

type 1 diabetes mellitus

Chiou J et al. “Interpreting type 1 diabetes risk with genetics and single-cell epigenomics.” Nature 594(7863):398-402 (2021)
Allele T
OR 1.10
p 4.0e-17
N 520,580
Large GWAS
European
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ClinVar annotation

Likely Benign★☆☆☆
1 submitter
View on ClinVar →

About CEL

The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008]

View all CEL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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