rs373597944

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs373597944(A;A)

Make rs373597944(A;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

47375233

Gene

EPCAM

is a	snp
is	mentioned by
dbSNP	rs373597944
dbSNP (classic)	rs373597944
ClinGen	rs373597944
ebi	rs373597944
HLI	rs373597944
Exac	rs373597944
Gnomad	rs373597944
Varsome	rs373597944
LitVar	rs373597944
Map	rs373597944
PheGenI	rs373597944
Biobank	rs373597944
1000 genomes	rs373597944
hgdp	rs373597944
ensembl	rs373597944
geneview	rs373597944
scholar	rs373597944
google	rs373597944
pharmgkb	rs373597944
gwascentral	rs373597944
openSNP	rs373597944
23andMe	rs373597944
SNPshot	rs373597944
SNPdbe	rs373597944
MSV3d	rs373597944
GWAS Ctlg	rs373597944

Max Magnitude

0

ClinVar
Risk	rs373597944(A;A) rs373597944(C;C) rs373597944(T;T)
Alt	rs373597944(A;A) rs373597944(C;C) rs373597944(T;T)
Reference	Rs373597944(G;G)
Significance	Other
Disease	Diarrhea 5
Variation	info
Gene	EPCAM
CLNDBN	Diarrhea 5, with tufting enteropathy, congenital
Reversed	0
HGVS	NC_000002.11:g.47602372G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013610.26,