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rs397516080

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs397516080(-;-)
Make rs397516080(-;TT)
ReferenceGRCh38 38.1/141
Chromosome11
Position47346639
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516080
dbSNP (classic)rs397516080
ClinGenrs397516080
ebirs397516080
HLIrs397516080
Exacrs397516080
Gnomadrs397516080
Varsomers397516080
LitVarrs397516080
Maprs397516080
PheGenIrs397516080
Biobankrs397516080
1000 genomesrs397516080
hgdprs397516080
ensemblrs397516080
geneviewrs397516080
scholarrs397516080
googlers397516080
pharmgkbrs397516080
gwascentralrs397516080
openSNPrs397516080
23andMers397516080
SNPshotrs397516080
SNPdbers397516080
MSV3drs397516080
GWAS Ctlgrs397516080
Merged fromRs730880685
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs397516080(TT;TT)
Significance Other
Disease Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47368190_47368191delAA
CLNSRC ClinVar
CLNACC RCV000035677.4, RCV000208183.1,