rs606231203

Orientation

plus

Stabilized

plus

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

Make rs606231203(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

47375300

Gene

EPCAM

is a	snp
is	mentioned by
dbSNP	rs606231203
dbSNP (classic)	rs606231203
ClinGen	rs606231203
ebi	rs606231203
HLI	rs606231203
Exac	rs606231203
Gnomad	rs606231203
Varsome	rs606231203
LitVar	rs606231203
Map	rs606231203
PheGenI	rs606231203
Biobank	rs606231203
1000 genomes	rs606231203
hgdp	rs606231203
ensembl	rs606231203
geneview	rs606231203
scholar	rs606231203
google	rs606231203
pharmgkb	rs606231203
gwascentral	rs606231203
openSNP	rs606231203
23andMe	rs606231203
SNPshot	rs606231203
SNPdbe	rs606231203
MSV3d	rs606231203
GWAS Ctlg	rs606231203

Max Magnitude

3

ClinVar
Risk	rs606231203(A;A) rs606231203(T;T)
Alt	rs606231203(A;A) rs606231203(T;T)
Reference	Rs606231203(G;G)
Significance	Pathogenic
Disease	Diarrhea 5 Lynch syndrome
Variation	info
Gene	EPCAM
CLNDBN	Diarrhea 5, with tufting enteropathy, congenital Lynch syndrome
Reversed	0
HGVS	NC_000002.11:g.47602439G>A; NC_000002.11:g.47602439G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013609.18, RCV000205118.1,