rs267606785

Orientation

plus

Stabilized

plus

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

Make rs267606785(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47373820

Gene

EPCAM

is a	snp
is	mentioned by
dbSNP	rs267606785
dbSNP (classic)	rs267606785
ClinGen	rs267606785
ebi	rs267606785
HLI	rs267606785
Exac	rs267606785
Gnomad	rs267606785
Varsome	rs267606785
LitVar	rs267606785
Map	rs267606785
PheGenI	rs267606785
Biobank	rs267606785
1000 genomes	rs267606785
hgdp	rs267606785
ensembl	rs267606785
geneview	rs267606785
scholar	rs267606785
google	rs267606785
pharmgkb	rs267606785
gwascentral	rs267606785
openSNP	rs267606785
23andMe	rs267606785
SNPshot	rs267606785
SNPdbe	rs267606785
MSV3d	rs267606785
GWAS Ctlg	rs267606785

Max Magnitude

3

ClinVar
Risk	rs267606785(A;A)
Alt	rs267606785(A;A)
Reference	Rs267606785(G;G)
Significance	Pathogenic
Disease	Diarrhea 5
Variation	info
Gene	EPCAM
CLNDBN	Diarrhea 5, with tufting enteropathy, congenital
Reversed	0
HGVS	NC_000002.11:g.47600959G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013611.27,