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rs869025467

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 6.2 Familial Hypertrophic Cardiomyopathy
(T;T) 0 common in clinvar


Make rs869025467(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position47341001
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs869025467
dbSNP (classic)rs869025467
ClinGenrs869025467
ebirs869025467
HLIrs869025467
Exacrs869025467
Gnomadrs869025467
Varsomers869025467
LitVarrs869025467
Maprs869025467
PheGenIrs869025467
Biobankrs869025467
1000 genomesrs869025467
hgdprs869025467
ensemblrs869025467
geneviewrs869025467
scholarrs869025467
googlers869025467
pharmgkbrs869025467
gwascentralrs869025467
openSNPrs869025467
23andMers869025467
SNPshotrs869025467
SNPdbers869025467
MSV3drs869025467
GWAS Ctlgrs869025467
Max Magnitude6.2
ClinVar
Risk rs869025467(C;C)
Alt rs869025467(C;C)
Reference Rs869025467(T;T)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47362552A>G
CLNSRC
CLNACC RCV000208230.1,