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rs730880643

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAC;AAC) 0 common in clinvar
Make rs730880643(-;-)
Make rs730880643(-;AAC)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47342657
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880643
dbSNP (classic)rs730880643
ClinGenrs730880643
ebirs730880643
HLIrs730880643
Exacrs730880643
Gnomadrs730880643
Varsomers730880643
LitVarrs730880643
Maprs730880643
PheGenIrs730880643
Biobankrs730880643
1000 genomesrs730880643
hgdprs730880643
ensemblrs730880643
geneviewrs730880643
scholarrs730880643
googlers730880643
pharmgkbrs730880643
gwascentralrs730880643
openSNPrs730880643
23andMers730880643
SNPshotrs730880643
SNPdbers730880643
MSV3drs730880643
GWAS Ctlgrs730880643
Max Magnitude0
ClinVar
Risk rs730880643(-;-)
Alt rs730880643(-;-)
Reference Rs730880643(AAC;AAC)
Significance Probable-Pathogenic
Disease not specified Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47364208_47364210delGTT
CLNSRC
CLNACC RCV000158347.3, RCV000456611.1,