rs606231281

Orientation

plus

Stabilized

plus

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

Make rs606231281(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

47377012

Gene	EPCAM, MIR559

is a	snp
is	mentioned by
dbSNP	rs606231281
dbSNP (classic)	rs606231281
ClinGen	rs606231281
ebi	rs606231281
HLI	rs606231281
Exac	rs606231281
Gnomad	rs606231281
Varsome	rs606231281
LitVar	rs606231281
Map	rs606231281
PheGenI	rs606231281
Biobank	rs606231281
1000 genomes	rs606231281
hgdp	rs606231281
ensembl	rs606231281
geneview	rs606231281
scholar	rs606231281
google	rs606231281
pharmgkb	rs606231281
gwascentral	rs606231281
openSNP	rs606231281
23andMe	rs606231281
SNPshot	rs606231281
SNPdbe	rs606231281
MSV3d	rs606231281
GWAS Ctlg	rs606231281

Max Magnitude

3

ClinVar
Risk	rs606231281(G;G)
Alt	rs606231281(G;G)
Reference	Rs606231281(A;A)
Significance	Pathogenic
Disease	Diarrhea 5
Variation	info
Gene	EPCAM MIR559
CLNDBN	Diarrhea 5, with tufting enteropathy, congenital
Reversed	0
HGVS	NC_000002.11:g.47604151A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000144937.4,