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rs397516059

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs397516059(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47349876
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516059
dbSNP (classic)rs397516059
ClinGenrs397516059
ebirs397516059
HLIrs397516059
Exacrs397516059
Gnomadrs397516059
Varsomers397516059
LitVarrs397516059
Maprs397516059
PheGenIrs397516059
Biobankrs397516059
1000 genomesrs397516059
hgdprs397516059
ensemblrs397516059
geneviewrs397516059
scholarrs397516059
googlers397516059
pharmgkbrs397516059
gwascentralrs397516059
openSNPrs397516059
23andMers397516059
SNPshotrs397516059
SNPdbers397516059
MSV3drs397516059
GWAS Ctlgrs397516059
Max Magnitude6.2
ClinVar
Risk rs397516059(T;T)
Alt rs397516059(T;T)
Reference Rs397516059(-;-)
Significance Other
Disease Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47371428dupA
CLNSRC ClinVar
CLNACC RCV000035646.3, RCV000223779.2, RCV000225364.1, RCV000467369.1,