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rs397515952

From SNPedia

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


Make rs397515952(-;-)
ReferenceGRCh38 38.1/141
Chromosome11
Position47338665
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515952
dbSNP (classic)rs397515952
ClinGenrs397515952
ebirs397515952
HLIrs397515952
Exacrs397515952
Gnomadrs397515952
Varsomers397515952
LitVarrs397515952
Maprs397515952
PheGenIrs397515952
Biobankrs397515952
1000 genomesrs397515952
hgdprs397515952
ensemblrs397515952
geneviewrs397515952
scholarrs397515952
googlers397515952
pharmgkbrs397515952
gwascentralrs397515952
openSNPrs397515952
23andMers397515952
SNPshotrs397515952
SNPdbers397515952
MSV3drs397515952
GWAS Ctlgrs397515952
Max Magnitude6.2
ClinVar
Risk rs397515952(-;-)
Alt rs397515952(-;-)
Reference Rs397515952(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.47360216delG
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000211802.1,