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rs397515965

From SNPedia

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


Make rs397515965(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position47337539
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515965
dbSNP (classic)rs397515965
ClinGenrs397515965
ebirs397515965
HLIrs397515965
Exacrs397515965
Gnomadrs397515965
Varsomers397515965
LitVarrs397515965
Maprs397515965
PheGenIrs397515965
Biobankrs397515965
1000 genomesrs397515965
hgdprs397515965
ensemblrs397515965
geneviewrs397515965
scholarrs397515965
googlers397515965
pharmgkbrs397515965
gwascentralrs397515965
openSNPrs397515965
23andMers397515965
SNPshotrs397515965
SNPdbers397515965
MSV3drs397515965
GWAS Ctlgrs397515965
Max Magnitude6.2
ClinVar
Risk rs397515965(A;A)
Alt rs397515965(A;A)
Reference Rs397515965(G;G)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47359090C>T
CLNSRC ClinVar
CLNACC RCV000035490.3, RCV000158150.4, RCV000461443.1,