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rs397515947

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515947(-;-)
Make rs397515947(-;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position47339376
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515947
ebirs397515947
HLIrs397515947
Exacrs397515947
Varsomers397515947
Maprs397515947
PheGenIrs397515947
hapmaprs397515947
1000 genomesrs397515947
hgdprs397515947
ensemblrs397515947
gopubmedrs397515947
geneviewrs397515947
scholarrs397515947
googlers397515947
pharmgkbrs397515947
gwascentralrs397515947
openSNPrs397515947
23andMers397515947
23andMe allrs397515947
SNP Nexus

SNPshotrs397515947
SNPdbers397515947
MSV3drs397515947
GWAS Ctlgrs397515947
Max Magnitude0
ClinVar
Risk rs397515947(;)
Alt rs397515947(;)
Reference rs397515947(C;C)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47360927delG
CLNSRC ClinVar
CLNACC RCV000035464.3, RCV000158358.1, RCV000232610.1,