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rs730880596

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880596(A;A)
Make rs730880596(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47332579
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880596
dbSNP (old)rs730880596
ClinGenrs730880596
ebirs730880596
HLIrs730880596
Exacrs730880596
Gnomadrs730880596
Varsomers730880596
Maprs730880596
PheGenIrs730880596
Biobankrs730880596
1000 genomesrs730880596
hgdprs730880596
ensemblrs730880596
gopubmedrs730880596
geneviewrs730880596
scholarrs730880596
googlers730880596
pharmgkbrs730880596
gwascentralrs730880596
openSNPrs730880596
23andMers730880596
23andMe allrs730880596
SNP Nexus

SNPshotrs730880596
SNPdbers730880596
MSV3drs730880596
GWAS Ctlgrs730880596
Max Magnitude0
ClinVar
Risk rs730880596(A;A)
Alt rs730880596(A;A)
Reference Rs730880596(G;G)
Significance Probable-Pathogenic
Disease not specified Hypertrophic cardiomyopathy Peripheral neuropathy
Variation info
Gene MYBPC3
CLNDBN not specified Hypertrophic cardiomyopathy Peripheral neuropathy
Reversed 1
HGVS NC_000011.9:g.47354130C>T
CLNSRC
CLNACC RCV000158247.3, RCV000168378.1, RCV000449593.1,