rs121909293
This is a variant in the CTRC gene that changes a arginine to an tryptophan.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
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 T
OR 0.64
p 6.0e-53
N 47,745
Large GWAS
European
▶ClinVar annotation
Pathogenic★☆☆☆
12 submitters10 publicationsHereditary pancreatitis (PCTT); Pancreatitis, chronic, susceptibility to; not specified
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]
View all CTRC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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