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rs397516072

From SNPedia

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


Make rs397516072(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position47348423
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516072
dbSNP (old)rs397516072
ClinGenrs397516072
ebirs397516072
HLIrs397516072
Exacrs397516072
Gnomadrs397516072
Varsomers397516072
Maprs397516072
PheGenIrs397516072
Biobankrs397516072
1000 genomesrs397516072
hgdprs397516072
ensemblrs397516072
gopubmedrs397516072
geneviewrs397516072
scholarrs397516072
googlers397516072
pharmgkbrs397516072
gwascentralrs397516072
openSNPrs397516072
23andMers397516072
23andMe allrs397516072
SNP Nexus

SNPshotrs397516072
SNPdbers397516072
MSV3drs397516072
GWAS Ctlgrs397516072
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 rs397516072(A;A)
Alt rs397516072(A;A)
Reference Rs397516072(G;G)
Significance Other
Disease Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Variation info
Gene MYBPC3
CLNDBN Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed 1
HGVS NC_000011.9:g.47369974C>T
CLNSRC ClinVar
CLNACC RCV000204012.1, RCV000211829.1, RCV000250001.1,