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rs730880335

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs730880335(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47350574
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880335
dbSNP (classic)rs730880335
ClinGenrs730880335
ebirs730880335
HLIrs730880335
Exacrs730880335
Gnomadrs730880335
Varsomers730880335
LitVarrs730880335
Maprs730880335
PheGenIrs730880335
Biobankrs730880335
1000 genomesrs730880335
hgdprs730880335
ensemblrs730880335
geneviewrs730880335
scholarrs730880335
googlers730880335
pharmgkbrs730880335
gwascentralrs730880335
openSNPrs730880335
23andMers730880335
SNPshotrs730880335
SNPdbers730880335
MSV3drs730880335
GWAS Ctlgrs730880335
Max Magnitude6.2
ClinVar
Risk rs730880335(T;T)
Alt rs730880335(T;T)
Reference Rs730880335(-;-)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47372126dupA
CLNSRC
CLNACC RCV000154272.2,