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rs397515977

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 6 Familial hypertrophic cardiomyopathy (possible)
(G;G) 0 common in clinvar


Make rs397515977(-;-)
ReferenceGRCh38 38.1/141
Chromosome11
Position47337435
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515977
ClinGenrs397515977
ebirs397515977
HLIrs397515977
Exacrs397515977
Varsomers397515977
Maprs397515977
PheGenIrs397515977
hapmaprs397515977
1000 genomesrs397515977
hgdprs397515977
ensemblrs397515977
gopubmedrs397515977
geneviewrs397515977
scholarrs397515977
googlers397515977
pharmgkbrs397515977
gwascentralrs397515977
openSNPrs397515977
23andMers397515977
23andMe allrs397515977
SNP Nexus

SNPshotrs397515977
SNPdbers397515977
MSV3drs397515977
GWAS Ctlgrs397515977
Max Magnitude6

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].

ClinVar
Risk rs397515977(-;-)
Alt rs397515977(-;-)
Reference Rs397515977(G;G)
Significance Pathogenic
Disease not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47358986delC
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000158367.3, RCV000211808.2, RCV000473384.1,