Variant: rs606231203 

    present in Gene: EPCAM
    present in Chromosome: 2
    Position on Chromosome: 47375300
    Alleles of this Variant: G/A;T

rs606231203 in EPCAM gene and DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL PMID 18572020 2008 Identification of EpCAM as the gene for congenital tufting enteropathy.

PMID 20981223 2010 Tufting Enteropathy with EpCAM Mutations in Two Siblings.

PMID 23462293 2013 Absence of cell-surface EpCAM in congenital tufting enteropathy.