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rs878854496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 Lynch syndrome mutation
Make rs878854496(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position47386570
GeneEPCAM
is asnp
is mentioned by
dbSNPrs878854496
dbSNP (classic)rs878854496
ClinGenrs878854496
ebirs878854496
HLIrs878854496
Exacrs878854496
Gnomadrs878854496
Varsomers878854496
LitVarrs878854496
Maprs878854496
PheGenIrs878854496
Biobankrs878854496
1000 genomesrs878854496
hgdprs878854496
ensemblrs878854496
geneviewrs878854496
scholarrs878854496
googlers878854496
pharmgkbrs878854496
gwascentralrs878854496
openSNPrs878854496
23andMers878854496
SNPshotrs878854496
SNPdbers878854496
MSV3drs878854496
GWAS Ctlgrs878854496
Max Magnitude6
ClinVar
Risk rs878854496(G;G)
Alt rs878854496(G;G)
Reference Rs878854496(A;A)
Significance Probable-Pathogenic
Disease Lynch syndrome
Variation info
Gene EPCAM
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47613709A>G
CLNSRC
CLNACC RCV000232256.1,