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rs869025465

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTGGAACTGGCTGACC;GTGGAACTGGCTGACC) 0 common in clinvar
(GTGGAACTGGCTGACCA;GTGGAACTGGCTGACCA) 0 common in clinvar
Make rs869025465(-;-)
Make rs869025465(-;GTGGAACTGGCTGACC)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position47343547
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs869025465
dbSNP (classic)rs869025465
ClinGenrs869025465
ebirs869025465
HLIrs869025465
Exacrs869025465
Gnomadrs869025465
Varsomers869025465
LitVarrs869025465
Maprs869025465
PheGenIrs869025465
Biobankrs869025465
1000 genomesrs869025465
hgdprs869025465
ensemblrs869025465
geneviewrs869025465
scholarrs869025465
googlers869025465
pharmgkbrs869025465
gwascentralrs869025465
openSNPrs869025465
23andMers869025465
SNPshotrs869025465
SNPdbers869025465
MSV3drs869025465
GWAS Ctlgrs869025465
Max Magnitude0
ClinVar
Risk rs869025465(-;-)
Alt rs869025465(-;-)
Reference Rs869025465(GTGGAACTGGCTGACC;GTGGAACTGGCTGACC)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47365098_47365113del16
CLNSRC
CLNACC RCV000208490.1,