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rs397515893

From SNPedia

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


Make rs397515893(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position47343158
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515893
dbSNP (old)rs397515893
ClinGenrs397515893
ebirs397515893
HLIrs397515893
Exacrs397515893
Gnomadrs397515893
Varsomers397515893
Maprs397515893
PheGenIrs397515893
Biobankrs397515893
1000 genomesrs397515893
hgdprs397515893
ensemblrs397515893
gopubmedrs397515893
geneviewrs397515893
scholarrs397515893
googlers397515893
pharmgkbrs397515893
gwascentralrs397515893
openSNPrs397515893
23andMers397515893
23andMe allrs397515893
SNP Nexus

SNPshotrs397515893
SNPdbers397515893
MSV3drs397515893
GWAS Ctlgrs397515893
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 rs397515893(A;A)
Alt rs397515893(A;A)
Reference Rs397515893(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47364709C>T
CLNSRC ClinVar
CLNACC RCV000035378.3, RCV000458315.1,