rs397514661

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of an infancy diarrhea mutation

Make rs397514661(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47374035

Gene

EPCAM

is a	snp
is	mentioned by
dbSNP	rs397514661
dbSNP (classic)	rs397514661
ClinGen	rs397514661
ebi	rs397514661
HLI	rs397514661
Exac	rs397514661
Gnomad	rs397514661
Varsome	rs397514661
LitVar	rs397514661
Map	rs397514661
PheGenI	rs397514661
Biobank	rs397514661
1000 genomes	rs397514661
hgdp	rs397514661
ensembl	rs397514661
geneview	rs397514661
scholar	rs397514661
google	rs397514661
pharmgkb	rs397514661
gwascentral	rs397514661
openSNP	rs397514661
23andMe	rs397514661
SNPshot	rs397514661
SNPdbe	rs397514661
MSV3d	rs397514661
GWAS Ctlg	rs397514661

Max Magnitude

3

ClinVar
Risk	rs397514661(A;A) rs397514661(T;T)
Alt	rs397514661(A;A) rs397514661(T;T)
Reference	Rs397514661(C;C)
Significance	Pathogenic
Disease	Diarrhea 5
Variation	info
Gene	EPCAM
CLNDBN	Diarrhea 5, with tufting enteropathy, congenital
Reversed	0
HGVS	NC_000002.11:g.47601174C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033250.24,