rs497078

This variant is located in the CTRC gene.

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GWAS Catalog Trait Associations (2)

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

non-alcoholic pancreatitis

Schmidt AW et al. “Colocalization analysis of pancreas eQTLs with risk loci from alcoholic and novel non-alcoholic chronic pancreatitis GWAS suggests potential disease causing mechanisms.” Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.] 22(4):449-456 (2022)

Allele T

OR 2.28

p 1.0e-21

N 6,624

Large GWAS

European

chronic pancreatitis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.24

p 2.0e-15

N 629,889

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Likely Benign★★★☆

9 submitters4 publications

Hereditary pancreatitis; not specified; not provided

View on ClinVar →

About CTRC

This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]