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rs397515945

From SNPedia

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


Make rs397515945(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47351325
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515945
dbSNP (classic)rs397515945
ClinGenrs397515945
ebirs397515945
HLIrs397515945
Exacrs397515945
Gnomadrs397515945
Varsomers397515945
LitVarrs397515945
Maprs397515945
PheGenIrs397515945
Biobankrs397515945
1000 genomesrs397515945
hgdprs397515945
ensemblrs397515945
geneviewrs397515945
scholarrs397515945
googlers397515945
pharmgkbrs397515945
gwascentralrs397515945
openSNPrs397515945
23andMers397515945
SNPshotrs397515945
SNPdbers397515945
MSV3drs397515945
GWAS Ctlgrs397515945
Max Magnitude6.2
ClinVar
Risk rs397515945(A;A)
Alt rs397515945(A;A)
Reference Rs397515945(G;G)
Significance Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47372876C>T
CLNSRC
CLNACC RCV000035462.2, RCV000208106.1,