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rs397516057

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397516057(A;C)
Make rs397516057(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position47349924
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516057
ebirs397516057
HLIrs397516057
Exacrs397516057
Varsomers397516057
Maprs397516057
PheGenIrs397516057
hapmaprs397516057
1000 genomesrs397516057
hgdprs397516057
ensemblrs397516057
gopubmedrs397516057
geneviewrs397516057
scholarrs397516057
googlers397516057
pharmgkbrs397516057
gwascentralrs397516057
openSNPrs397516057
23andMers397516057
23andMe allrs397516057
SNP Nexus

SNPshotrs397516057
SNPdbers397516057
MSV3drs397516057
GWAS Ctlgrs397516057
Max Magnitude0
ClinVar
Risk rs397516057(C;C)
Alt rs397516057(C;C)
Reference rs397516057(A;A)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47371475T>G
CLNSRC ClinVar
CLNACC RCV000035640.2,