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rs397515973

From SNPedia

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


Make rs397515973(-;-)
ReferenceGRCh38 38.1/141
Chromosome11
Position47337455
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515973
ClinGenrs397515973
ebirs397515973
HLIrs397515973
Exacrs397515973
Varsomers397515973
Maprs397515973
PheGenIrs397515973
hapmaprs397515973
1000 genomesrs397515973
hgdprs397515973
ensemblrs397515973
gopubmedrs397515973
geneviewrs397515973
scholarrs397515973
googlers397515973
pharmgkbrs397515973
gwascentralrs397515973
openSNPrs397515973
23andMers397515973
23andMe allrs397515973
SNP Nexus

SNPshotrs397515973
SNPdbers397515973
MSV3drs397515973
GWAS Ctlgrs397515973
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 rs397515973(-;-)
Alt rs397515973(-;-)
Reference Rs397515973(GCGTC;GCGTC)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47359006_47359010delGACGC
CLNSRC MYBPC3 homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant
CLNACC RCV000009142.3, RCV000035503.2, RCV000158478.1,