rs376155665

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	6	Lynch syndrome mutation

Make rs376155665(G;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

47378939

Gene

EPCAM

is a	snp
is	mentioned by
dbSNP	rs376155665
dbSNP (classic)	rs376155665
ClinGen	rs376155665
ebi	rs376155665
HLI	rs376155665
Exac	rs376155665
Gnomad	rs376155665
Varsome	rs376155665
LitVar	rs376155665
Map	rs376155665
PheGenI	rs376155665
Biobank	rs376155665
1000 genomes	rs376155665
hgdp	rs376155665
ensembl	rs376155665
geneview	rs376155665
scholar	rs376155665
google	rs376155665
pharmgkb	rs376155665
gwascentral	rs376155665
openSNP	rs376155665
23andMe	rs376155665
SNPshot	rs376155665
SNPdbe	rs376155665
MSV3d	rs376155665
GWAS Ctlg	rs376155665

Max Magnitude

6

ClinVar
Risk	rs376155665(C;C) rs376155665(G;G) rs376155665(T;T)
Alt	rs376155665(C;C) rs376155665(G;G) rs376155665(T;T)
Reference	Rs376155665(A;A)
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.47606078A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000144936.4, RCV000230671.1,