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rs376155665

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs376155665(A;G)
Make rs376155665(G;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position47378939
GeneEPCAM
is asnp
is mentioned by
dbSNPrs376155665
ebirs376155665
HLIrs376155665
Exacrs376155665
Varsomers376155665
Maprs376155665
PheGenIrs376155665
hapmaprs376155665
1000 genomesrs376155665
hgdprs376155665
ensemblrs376155665
gopubmedrs376155665
geneviewrs376155665
scholarrs376155665
googlers376155665
pharmgkbrs376155665
gwascentralrs376155665
openSNPrs376155665
23andMers376155665
23andMe allrs376155665
SNP Nexus

SNPshotrs376155665
SNPdbers376155665
MSV3drs376155665
GWAS Ctlgrs376155665
Max Magnitude0
ClinVar
Risk rs376155665(C,G,T;C,G,T)
Alt rs376155665(C,G,T;C,G,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,