Gene: EPCAM ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376155665
rs376155665
EPCAM
G 0.700 CausalMutation CLINVAR Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy. 28701297

2017
dbSNP: rs376155665
rs376155665
EPCAM
G 0.700 CausalMutation CLINVAR Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. 24142340

2014
dbSNP: rs376155665
rs376155665
EPCAM
G 0.700 CausalMutation CLINVAR Absence of cell-surface EpCAM in congenital tufting enteropathy. 23462293

2013
dbSNP: rs1558438591
rs1558438591
EPCAM
T 0.700 CausalMutation CLINVAR

dbSNP: rs878854485
rs878854485
EPCAM
T 0.700 CausalMutation CLINVAR

dbSNP: rs878854491
rs878854491
EPCAM ; MIR559
T 0.700 CausalMutation CLINVAR

dbSNP: rs878854496
rs878854496
EPCAM
G 0.700 GeneticVariation CLINVAR