Variant: rs376155665 

    present in Gene: EPCAM
    present in Chromosome: 2
    Position on Chromosome: 47378939
    Alleles of this Variant: A/C;G;T

rs376155665 in EPCAM gene and Hereditary Nonpolyposis Colorectal Neoplasms PMID 23462293 2013 Absence of cell-surface EpCAM in congenital tufting enteropathy.

PMID 28701297 2017 Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.

PMID 24142340 2014 Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.