rs201314303

This variant is located in the EPCAM gene.

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GWAS Catalog Trait Associations (1)

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

epithelial cell adhesion molecule measurement

Enroth S et al. “Strong effects of genetic and lifestyle factors on biomarker variation and use of personalized cutoffs.” Nature Communications 5:4684 (2014)

Allele G

OR 2.48

p 7.0e-16

N 970

Small GWAS

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ClinVar annotation

Uncertain Significance★★★☆

5 submitters2 publications

not specified; EPCAM-related disorder; Lynch syndrome 8; not provided; Malignant tumor of urinary bladder

View on ClinVar →

About EPCAM

This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]

View all EPCAM variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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