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rs397515954

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515954(G;T)
Make rs397515954(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47338646
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515954
ebirs397515954
HLIrs397515954
Exacrs397515954
Varsomers397515954
Maprs397515954
PheGenIrs397515954
hapmaprs397515954
1000 genomesrs397515954
hgdprs397515954
ensemblrs397515954
gopubmedrs397515954
geneviewrs397515954
scholarrs397515954
googlers397515954
pharmgkbrs397515954
gwascentralrs397515954
openSNPrs397515954
23andMers397515954
23andMe allrs397515954
SNP Nexus

SNPshotrs397515954
SNPdbers397515954
MSV3drs397515954
GWAS Ctlgrs397515954
Max Magnitude0
ClinVar
Risk rs397515954(T;T)
Alt rs397515954(T;T)
Reference rs397515954(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47360197C>A
CLNSRC ClinVar
CLNACC RCV000035473.4, RCV000158141.1, RCV000211803.1,