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rs397514661

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514661(C;T)
Make rs397514661(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47374035
GeneEPCAM
is asnp
is mentioned by
dbSNPrs397514661
ebirs397514661
HLIrs397514661
Exacrs397514661
Varsomers397514661
Maprs397514661
PheGenIrs397514661
hapmaprs397514661
1000 genomesrs397514661
hgdprs397514661
ensemblrs397514661
gopubmedrs397514661
geneviewrs397514661
scholarrs397514661
googlers397514661
pharmgkbrs397514661
gwascentralrs397514661
openSNPrs397514661
23andMers397514661
23andMe allrs397514661
SNP Nexus

SNPshotrs397514661
SNPdbers397514661
MSV3drs397514661
GWAS Ctlgrs397514661
Max Magnitude0
ClinVar
Risk rs397514661(A,T;A,T)
Alt rs397514661(A,T;A,T)
Reference rs397514661(C;C)
Significance Pathogenic
Disease Diarrhea 5
Variation info
Gene EPCAM
CLNDBN Diarrhea 5, with tufting enteropathy, congenital
Reversed 0
HGVS NC_000002.11:g.47601174C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033250.24,