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rs397516007

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397516007(-;-)
Make rs397516007(-;C)
Make rs397516007(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position47333331
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516007
ebirs397516007
HLIrs397516007
Exacrs397516007
Varsomers397516007
Maprs397516007
PheGenIrs397516007
hapmaprs397516007
1000 genomesrs397516007
hgdprs397516007
ensemblrs397516007
gopubmedrs397516007
geneviewrs397516007
scholarrs397516007
googlers397516007
pharmgkbrs397516007
gwascentralrs397516007
openSNPrs397516007
23andMers397516007
23andMe allrs397516007
SNP Nexus

SNPshotrs397516007
SNPdbers397516007
MSV3drs397516007
GWAS Ctlgrs397516007
Max Magnitude0
ClinVar
Risk rs397516007(C;C)
Alt rs397516007(C;C)
Reference rs397516007(;)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354883dupG
CLNSRC ClinVar
CLNACC RCV000035566.4, RCV000158392.2, RCV000168202.1, RCV000211817.1,