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rs397515933

From SNPedia

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


Make rs397515933(-;-)
ReferenceGRCh38 38.1/141
Chromosome11
Position47341143
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515933
dbSNP (classic)rs397515933
ClinGenrs397515933
ebirs397515933
HLIrs397515933
Exacrs397515933
Gnomadrs397515933
Varsomers397515933
LitVarrs397515933
Maprs397515933
PheGenIrs397515933
Biobankrs397515933
1000 genomesrs397515933
hgdprs397515933
ensemblrs397515933
geneviewrs397515933
scholarrs397515933
googlers397515933
pharmgkbrs397515933
gwascentralrs397515933
openSNPrs397515933
23andMers397515933
SNPshotrs397515933
SNPdbers397515933
MSV3drs397515933
GWAS Ctlgrs397515933
Max Magnitude6.2
ClinVar
Risk rs397515933(-;-)
Alt rs397515933(-;-)
Reference Rs397515933(T;T)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47362694delA
CLNSRC ClinVar
CLNACC RCV000035448.2,