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rs606231204

From SNPedia

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Geno Mag Summary
(;) 0 common in clinvar
Make rs606231204(-;-)
Make rs606231204(-;C)
Make rs606231204(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47377021
GeneEPCAM, MIR559
is asnp
is mentioned by
dbSNPrs606231204
ebirs606231204
HLIrs606231204
Exacrs606231204
Varsomers606231204
Maprs606231204
PheGenIrs606231204
hapmaprs606231204
1000 genomesrs606231204
hgdprs606231204
ensemblrs606231204
gopubmedrs606231204
geneviewrs606231204
scholarrs606231204
googlers606231204
pharmgkbrs606231204
gwascentralrs606231204
openSNPrs606231204
23andMers606231204
23andMe allrs606231204
SNP Nexus

SNPshotrs606231204
SNPdbers606231204
MSV3drs606231204
GWAS Ctlgrs606231204
Max Magnitude0
ClinVar
Risk rs606231204(C;C)
Alt rs606231204(C;C)
Reference rs606231204(;)
Significance Pathogenic
Disease Diarrhea 5
Variation info
Gene EPCAM MIR559
CLNDBN Diarrhea 5, with tufting enteropathy, congenital
Reversed 0
HGVS NC_000002.11:g.47604160dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000013612.25,