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rs878854488

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of an infancy diarrhea mutation
(G;G) 0 common in clinvar


Make rs878854488(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position47375237
GeneEPCAM
is asnp
is mentioned by
dbSNPrs878854488
dbSNP (classic)rs878854488
ClinGenrs878854488
ebirs878854488
HLIrs878854488
Exacrs878854488
Gnomadrs878854488
Varsomers878854488
LitVarrs878854488
Maprs878854488
PheGenIrs878854488
Biobankrs878854488
1000 genomesrs878854488
hgdprs878854488
ensemblrs878854488
geneviewrs878854488
scholarrs878854488
googlers878854488
pharmgkbrs878854488
gwascentralrs878854488
openSNPrs878854488
23andMers878854488
SNPshotrs878854488
SNPdbers878854488
MSV3drs878854488
GWAS Ctlgrs878854488
Max Magnitude3
ClinVar
Risk rs878854488(A;A)
Alt rs878854488(A;A)
Reference Rs878854488(G;G)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene EPCAM
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47602376G>A
CLNSRC
CLNACC RCV000229611.1,