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rs878853831

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTGGAGGT;CTGGAGGT) 0 common in clinvar
Make rs878853831(-;-)
Make rs878853831(-;CTGGAGGT)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position47342141
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs878853831
dbSNP (classic)rs878853831
ClinGenrs878853831
ebirs878853831
HLIrs878853831
Exacrs878853831
Gnomadrs878853831
Varsomers878853831
LitVarrs878853831
Maprs878853831
PheGenIrs878853831
Biobankrs878853831
1000 genomesrs878853831
hgdprs878853831
ensemblrs878853831
geneviewrs878853831
scholarrs878853831
googlers878853831
pharmgkbrs878853831
gwascentralrs878853831
openSNPrs878853831
23andMers878853831
SNPshotrs878853831
SNPdbers878853831
MSV3drs878853831
GWAS Ctlgrs878853831
Max Magnitude0
ClinVar
Risk rs878853831(-;-)
Alt rs878853831(-;-)
Reference Rs878853831(CTGGAGGT;CTGGAGGT)
Significance Pathogenic
Disease Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47363692_47363699delACCTCCAG
CLNSRC
CLNACC RCV000229377.2,