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rs397515990

From SNPedia

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


Make rs397515990(-;-)
ReferenceGRCh38 38.1/141
Chromosome11
Position47335082
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515990
dbSNP (old)rs397515990
ClinGenrs397515990
ebirs397515990
HLIrs397515990
Exacrs397515990
Gnomadrs397515990
Varsomers397515990
Maprs397515990
PheGenIrs397515990
Biobankrs397515990
1000 genomesrs397515990
hgdprs397515990
ensemblrs397515990
gopubmedrs397515990
geneviewrs397515990
scholarrs397515990
googlers397515990
pharmgkbrs397515990
gwascentralrs397515990
openSNPrs397515990
23andMers397515990
23andMe allrs397515990
SNP Nexus

SNPshotrs397515990
SNPdbers397515990
MSV3drs397515990
GWAS Ctlgrs397515990
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 rs397515990(-;-)
Alt rs397515990(-;-)
Reference Rs397515990(CT;CT)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 Left ventricular noncompaction 10 not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Left ventricular noncompaction 10 not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47356633_47356634delAG
CLNSRC MYBPC3 homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant
CLNACC RCV000035533.6, RCV000054803.2, RCV000158381.4, RCV000208060.1, RCV000225856.2,