rs606231204

Orientation

plus

Stabilized

plus

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

Make rs606231204(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

47377021

Gene	EPCAM, MIR559

is a	snp
is	mentioned by
dbSNP	rs606231204
dbSNP (classic)	rs606231204
ClinGen	rs606231204
ebi	rs606231204
HLI	rs606231204
Exac	rs606231204
Gnomad	rs606231204
Varsome	rs606231204
LitVar	rs606231204
Map	rs606231204
PheGenI	rs606231204
Biobank	rs606231204
1000 genomes	rs606231204
hgdp	rs606231204
ensembl	rs606231204
geneview	rs606231204
scholar	rs606231204
google	rs606231204
pharmgkb	rs606231204
gwascentral	rs606231204
openSNP	rs606231204
23andMe	rs606231204
SNPshot	rs606231204
SNPdbe	rs606231204
MSV3d	rs606231204
GWAS Ctlg	rs606231204

Max Magnitude

3

ClinVar
Risk	rs606231204(C;C)
Alt	rs606231204(C;C)
Reference	Rs606231204(-;-)
Significance	Pathogenic
Disease	Diarrhea 5
Variation	info
Gene	EPCAM MIR559
CLNDBN	Diarrhea 5, with tufting enteropathy, congenital
Reversed	0
HGVS	NC_000002.11:g.47604160dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013612.25,