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rs397515948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397515948(-;-)
Make rs397515948(-;A)
Make rs397515948(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position47339358
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515948
ebirs397515948
HLIrs397515948
Exacrs397515948
Varsomers397515948
Maprs397515948
PheGenIrs397515948
hapmaprs397515948
1000 genomesrs397515948
hgdprs397515948
ensemblrs397515948
gopubmedrs397515948
geneviewrs397515948
scholarrs397515948
googlers397515948
pharmgkbrs397515948
gwascentralrs397515948
openSNPrs397515948
23andMers397515948
23andMe allrs397515948
SNP Nexus

SNPshotrs397515948
SNPdbers397515948
MSV3drs397515948
GWAS Ctlgrs397515948
Max Magnitude0
ClinVar
Risk rs397515948(A;A)
Alt rs397515948(A;A)
Reference rs397515948(;)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47360910dupT
CLNSRC ClinVar
CLNACC RCV000035465.2, RCV000204303.1,