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rs730880618

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880618(C;T)
Make rs730880618(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47350035
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880618
dbSNP (classic)rs730880618
ClinGenrs730880618
ebirs730880618
HLIrs730880618
Exacrs730880618
Gnomadrs730880618
Varsomers730880618
LitVarrs730880618
Maprs730880618
PheGenIrs730880618
Biobankrs730880618
1000 genomesrs730880618
hgdprs730880618
ensemblrs730880618
geneviewrs730880618
scholarrs730880618
googlers730880618
pharmgkbrs730880618
gwascentralrs730880618
openSNPrs730880618
23andMers730880618
SNPshotrs730880618
SNPdbers730880618
MSV3drs730880618
GWAS Ctlgrs730880618
Max Magnitude0
ClinVar
Risk rs730880618(T;T)
Alt rs730880618(T;T)
Reference Rs730880618(C;C)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47371586G>A
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000168743.2,