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rs397516030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516030(-;-)
Make rs397516030(-;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position47332569
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516030
ebirs397516030
HLIrs397516030
Exacrs397516030
Varsomers397516030
Maprs397516030
PheGenIrs397516030
hapmaprs397516030
1000 genomesrs397516030
hgdprs397516030
ensemblrs397516030
gopubmedrs397516030
geneviewrs397516030
scholarrs397516030
googlers397516030
pharmgkbrs397516030
gwascentralrs397516030
openSNPrs397516030
23andMers397516030
23andMe allrs397516030
SNP Nexus

SNPshotrs397516030
SNPdbers397516030
MSV3drs397516030
GWAS Ctlgrs397516030
Max Magnitude0
ClinVar
Risk rs397516030(;)
Alt rs397516030(;)
Reference rs397516030(C;C)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354120delG
CLNSRC ClinVar
CLNACC RCV000035602.3, RCV000158405.1, RCV000231140.1,