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rs397516029

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs397516029(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position47332568
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516029
dbSNP (classic)rs397516029
ClinGenrs397516029
ebirs397516029
HLIrs397516029
Exacrs397516029
Gnomadrs397516029
Varsomers397516029
LitVarrs397516029
Maprs397516029
PheGenIrs397516029
Biobankrs397516029
1000 genomesrs397516029
hgdprs397516029
ensemblrs397516029
geneviewrs397516029
scholarrs397516029
googlers397516029
pharmgkbrs397516029
gwascentralrs397516029
openSNPrs397516029
23andMers397516029
SNPshotrs397516029
SNPdbers397516029
MSV3drs397516029
GWAS Ctlgrs397516029
Max Magnitude6.2
ClinVar
Risk rs397516029(C;C)
Alt rs397516029(C;C)
Reference Rs397516029(-;-)
Significance Other
Disease Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354120dupG
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000035601.7, RCV000211827.1,