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rs730880336

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs730880336(-;CGGCA)
Make rs730880336(CGGCA;CGGCA)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47346254
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880336
ClinGenrs730880336
ebirs730880336
HLIrs730880336
Exacrs730880336
Varsomers730880336
Maprs730880336
PheGenIrs730880336
hapmaprs730880336
1000 genomesrs730880336
hgdprs730880336
ensemblrs730880336
gopubmedrs730880336
geneviewrs730880336
scholarrs730880336
googlers730880336
pharmgkbrs730880336
gwascentralrs730880336
openSNPrs730880336
23andMers730880336
23andMe allrs730880336
SNP Nexus

SNPshotrs730880336
SNPdbers730880336
MSV3drs730880336
GWAS Ctlgrs730880336
Max Magnitude0
ClinVar
Risk rs730880336(CGGCA;CGGCA)
Alt rs730880336(CGGCA;CGGCA)
Reference Rs730880336(-;-)
Significance Pathogenic
Disease Cardiomyopathy Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene MYBPC3
CLNDBN Cardiomyopathy Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000011.9:g.47367806_47367810dupTGCCG
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000158423.1, RCV000211787.1, RCV000483113.1,