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rs606231203

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231203(A;A)
Make rs606231203(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47375300
GeneEPCAM
is asnp
is mentioned by
dbSNPrs606231203
ebirs606231203
HLIrs606231203
Exacrs606231203
Varsomers606231203
Maprs606231203
PheGenIrs606231203
hapmaprs606231203
1000 genomesrs606231203
hgdprs606231203
ensemblrs606231203
gopubmedrs606231203
geneviewrs606231203
scholarrs606231203
googlers606231203
pharmgkbrs606231203
gwascentralrs606231203
openSNPrs606231203
23andMers606231203
23andMe allrs606231203
SNP Nexus

SNPshotrs606231203
SNPdbers606231203
MSV3drs606231203
GWAS Ctlgrs606231203
Max Magnitude0
ClinVar
Risk rs606231203(A,T;A,T)
Alt rs606231203(A,T;A,T)
Reference rs606231203(G;G)
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.47602439G>A; NC_000002.11:g.47602439G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013609.18, RCV000205118.1,