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rs397516013

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516013(A;A)
Make rs397516013(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47333231
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516013
ebirs397516013
HLIrs397516013
Exacrs397516013
Varsomers397516013
Maprs397516013
PheGenIrs397516013
hapmaprs397516013
1000 genomesrs397516013
hgdprs397516013
ensemblrs397516013
gopubmedrs397516013
geneviewrs397516013
scholarrs397516013
googlers397516013
pharmgkbrs397516013
gwascentralrs397516013
openSNPrs397516013
23andMers397516013
23andMe allrs397516013
SNP Nexus

SNPshotrs397516013
SNPdbers397516013
MSV3drs397516013
GWAS Ctlgrs397516013
Max Magnitude0
ClinVar
Risk rs397516013(A,T;A,T)
Alt rs397516013(A,T;A,T)
Reference rs397516013(G;G)
Significance Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354782C>A; NC_000011.9:g.47354782C>T
CLNSRC ClinVar
CLNACC RCV000158224.1, RCV000035575.2,