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rs267606785

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606785(A;A)
Make rs267606785(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47373820
GeneEPCAM
is asnp
is mentioned by
dbSNPrs267606785
ebirs267606785
HLIrs267606785
Exacrs267606785
Varsomers267606785
Maprs267606785
PheGenIrs267606785
hapmaprs267606785
1000 genomesrs267606785
hgdprs267606785
ensemblrs267606785
gopubmedrs267606785
geneviewrs267606785
scholarrs267606785
googlers267606785
pharmgkbrs267606785
gwascentralrs267606785
openSNPrs267606785
23andMers267606785
23andMe allrs267606785
SNP Nexus

SNPshotrs267606785
SNPdbers267606785
MSV3drs267606785
GWAS Ctlgrs267606785
Max Magnitude0
ClinVar
Risk rs267606785(A;A)
Alt rs267606785(A;A)
Reference rs267606785(G;G)
Significance Pathogenic
Disease Diarrhea 5
Variation info
Gene EPCAM
CLNDBN Diarrhea 5, with tufting enteropathy, congenital
Reversed 0
HGVS NC_000002.11:g.47600959G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013611.27,