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rs730880709

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730880709(A;A)
Make rs730880709(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47346272
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880709
dbSNP (classic)rs730880709
ClinGenrs730880709
ebirs730880709
HLIrs730880709
Exacrs730880709
Gnomadrs730880709
Varsomers730880709
LitVarrs730880709
Maprs730880709
PheGenIrs730880709
Biobankrs730880709
1000 genomesrs730880709
hgdprs730880709
ensemblrs730880709
geneviewrs730880709
scholarrs730880709
googlers730880709
pharmgkbrs730880709
gwascentralrs730880709
openSNPrs730880709
23andMers730880709
SNPshotrs730880709
SNPdbers730880709
MSV3drs730880709
GWAS Ctlgrs730880709
Max Magnitude0
ClinVar
Risk rs730880709(A;A)
Alt rs730880709(A;A)
Reference Rs730880709(T;T)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47367823A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000158471.1,