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rs397515970

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs397515970(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47337468
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515970
dbSNP (classic)rs397515970
ClinGenrs397515970
ebirs397515970
HLIrs397515970
Exacrs397515970
Gnomadrs397515970
Varsomers397515970
LitVarrs397515970
Maprs397515970
PheGenIrs397515970
Biobankrs397515970
1000 genomesrs397515970
hgdprs397515970
ensemblrs397515970
geneviewrs397515970
scholarrs397515970
googlers397515970
pharmgkbrs397515970
gwascentralrs397515970
openSNPrs397515970
23andMers397515970
SNPshotrs397515970
SNPdbers397515970
MSV3drs397515970
GWAS Ctlgrs397515970
Max Magnitude6.2
ClinVar
Risk rs397515970(T;T)
Alt rs397515970(T;T)
Reference Rs397515970(-;-)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000011.9:g.47359020dupA
CLNSRC ClinVar
CLNACC RCV000035500.2, RCV000201921.1,