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rs730880366

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730880366(-;-)
Make rs730880366(-;C)
Make rs730880366(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47350052
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880366
ebirs730880366
HLIrs730880366
Exacrs730880366
Varsomers730880366
Maprs730880366
PheGenIrs730880366
hapmaprs730880366
1000 genomesrs730880366
hgdprs730880366
ensemblrs730880366
gopubmedrs730880366
geneviewrs730880366
scholarrs730880366
googlers730880366
pharmgkbrs730880366
gwascentralrs730880366
openSNPrs730880366
23andMers730880366
23andMe allrs730880366
SNP Nexus

SNPshotrs730880366
SNPdbers730880366
MSV3drs730880366
GWAS Ctlgrs730880366
Max Magnitude0
ClinVar
Risk rs730880366(C;C)
Alt rs730880366(C;C)
Reference rs730880366(;)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47371604dupG
CLNSRC
CLNACC RCV000156505.2,