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rs397515931

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 6.2 Familial Hypertrophic Cardiomyopathy
(C;C) 0 common in clinvar


Make rs397515931(-;-)
ReferenceGRCh38 38.1/141
Chromosome11
Position47341172
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515931
dbSNP (classic)rs397515931
ClinGenrs397515931
ebirs397515931
HLIrs397515931
Exacrs397515931
Gnomadrs397515931
Varsomers397515931
LitVarrs397515931
Maprs397515931
PheGenIrs397515931
Biobankrs397515931
1000 genomesrs397515931
hgdprs397515931
ensemblrs397515931
geneviewrs397515931
scholarrs397515931
googlers397515931
pharmgkbrs397515931
gwascentralrs397515931
openSNPrs397515931
23andMers397515931
SNPshotrs397515931
SNPdbers397515931
MSV3drs397515931
GWAS Ctlgrs397515931
Max Magnitude6.2
ClinVar
Risk rs397515931(-;-)
Alt rs397515931(-;-)
Reference Rs397515931(C;C)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47362723delG
CLNSRC ClinVar
CLNACC RCV000035446.3,