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rs730880543

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880543(A;A)
Make rs730880543(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position47342731
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880543
dbSNP (classic)rs730880543
ClinGenrs730880543
ebirs730880543
HLIrs730880543
Exacrs730880543
Gnomadrs730880543
Varsomers730880543
LitVarrs730880543
Maprs730880543
PheGenIrs730880543
Biobankrs730880543
1000 genomesrs730880543
hgdprs730880543
ensemblrs730880543
geneviewrs730880543
scholarrs730880543
googlers730880543
pharmgkbrs730880543
gwascentralrs730880543
openSNPrs730880543
23andMers730880543
SNPshotrs730880543
SNPdbers730880543
MSV3drs730880543
GWAS Ctlgrs730880543
Max Magnitude0
ClinVar
Risk rs730880543(A;A)
Alt rs730880543(A;A)
Reference Rs730880543(G;G)
Significance Probable-Pathogenic
Disease not provided Cardiovascular phenotype not specified Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not provided Cardiovascular phenotype not specified Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47364282C>T
CLNSRC
CLNACC RCV000158092.2, RCV000245534.1, RCV000454557.1, RCV000467731.1,