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rs397516056

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516056(G;T)
Make rs397516056(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47349923
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516056
ebirs397516056
HLIrs397516056
Exacrs397516056
Varsomers397516056
Maprs397516056
PheGenIrs397516056
hapmaprs397516056
1000 genomesrs397516056
hgdprs397516056
ensemblrs397516056
gopubmedrs397516056
geneviewrs397516056
scholarrs397516056
googlers397516056
pharmgkbrs397516056
gwascentralrs397516056
openSNPrs397516056
23andMers397516056
23andMe allrs397516056
SNP Nexus

SNPshotrs397516056
SNPdbers397516056
MSV3drs397516056
GWAS Ctlgrs397516056
Max Magnitude0
ClinVar
Risk rs397516056(C,T;C,T)
Alt rs397516056(C,T;C,T)
Reference rs397516056(G;G)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4
Reversed 1
HGVS NC_000011.9:g.47371474C>A; NC_000011.9:g.47371474C>G
CLNSRC ClinVar
CLNACC RCV000035639.2, RCV000168745.1,