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rs863224453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Lynch syndrome mutation
(G;G) 0 common in clinvar


Make rs863224453(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position47385165
GeneEPCAM
is asnp
is mentioned by
dbSNPrs863224453
dbSNP (classic)rs863224453
ClinGenrs863224453
ebirs863224453
HLIrs863224453
Exacrs863224453
Gnomadrs863224453
Varsomers863224453
LitVarrs863224453
Maprs863224453
PheGenIrs863224453
Biobankrs863224453
1000 genomesrs863224453
hgdprs863224453
ensemblrs863224453
geneviewrs863224453
scholarrs863224453
googlers863224453
pharmgkbrs863224453
gwascentralrs863224453
openSNPrs863224453
23andMers863224453
SNPshotrs863224453
SNPdbers863224453
MSV3drs863224453
GWAS Ctlgrs863224453
Max Magnitude6
ClinVar
Risk rs863224453(A;A)
Alt rs863224453(A;A)
Reference Rs863224453(G;G)
Significance Probable-Pathogenic
Disease Lynch syndrome
Variation info
Gene EPCAM
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47612304G>A
CLNSRC
CLNACC RCV000199459.1,