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rs878854485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome mutation
Make rs878854485(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position47373519
GeneEPCAM
is asnp
is mentioned by
dbSNPrs878854485
dbSNP (classic)rs878854485
ClinGenrs878854485
ebirs878854485
HLIrs878854485
Exacrs878854485
Gnomadrs878854485
Varsomers878854485
LitVarrs878854485
Maprs878854485
PheGenIrs878854485
Biobankrs878854485
1000 genomesrs878854485
hgdprs878854485
ensemblrs878854485
geneviewrs878854485
scholarrs878854485
googlers878854485
pharmgkbrs878854485
gwascentralrs878854485
openSNPrs878854485
23andMers878854485
SNPshotrs878854485
SNPdbers878854485
MSV3drs878854485
GWAS Ctlgrs878854485
Max Magnitude6
ClinVar
Risk rs878854485(T;T)
Alt rs878854485(T;T)
Reference Rs878854485(C;C)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene EPCAM
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47600658C>T
CLNSRC
CLNACC RCV000226008.1,