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rs373597944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs373597944(A;A)
Make rs373597944(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position47375233
GeneEPCAM
is asnp
is mentioned by
dbSNPrs373597944
ebirs373597944
HLIrs373597944
Exacrs373597944
Varsomers373597944
Maprs373597944
PheGenIrs373597944
hapmaprs373597944
1000 genomesrs373597944
hgdprs373597944
ensemblrs373597944
gopubmedrs373597944
geneviewrs373597944
scholarrs373597944
googlers373597944
pharmgkbrs373597944
gwascentralrs373597944
openSNPrs373597944
23andMers373597944
23andMe allrs373597944
SNP Nexus

SNPshotrs373597944
SNPdbers373597944
MSV3drs373597944
GWAS Ctlgrs373597944
Max Magnitude0
ClinVar
Risk rs373597944(A,C;A,C)
Alt rs373597944(A,C;A,C)
Reference rs373597944(G;G)
Significance Other
Disease Diarrhea 5
Variation info
Gene EPCAM
CLNDBN Diarrhea 5, with tufting enteropathy, congenital
Reversed 0
HGVS NC_000002.11:g.47602372G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013610.26,