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rs730880341

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs730880341(-;T)
Make rs730880341(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47337708
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880341
dbSNP (classic)rs730880341
ClinGenrs730880341
ebirs730880341
HLIrs730880341
Exacrs730880341
Gnomadrs730880341
Varsomers730880341
LitVarrs730880341
Maprs730880341
PheGenIrs730880341
Biobankrs730880341
1000 genomesrs730880341
hgdprs730880341
ensemblrs730880341
geneviewrs730880341
scholarrs730880341
googlers730880341
pharmgkbrs730880341
gwascentralrs730880341
openSNPrs730880341
23andMers730880341
SNPshotrs730880341
SNPdbers730880341
MSV3drs730880341
GWAS Ctlgrs730880341
Max Magnitude0
ClinVar
Risk rs730880341(T;T)
Alt rs730880341(T;T)
Reference Rs730880341(-;-)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47359260dupA
CLNSRC
CLNACC RCV000154500.3, RCV000211806.1, RCV000234262.1,