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rs869025459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs869025459(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position47351302
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs869025459
dbSNP (classic)rs869025459
ClinGenrs869025459
ebirs869025459
HLIrs869025459
Exacrs869025459
Gnomadrs869025459
Varsomers869025459
LitVarrs869025459
Maprs869025459
PheGenIrs869025459
Biobankrs869025459
1000 genomesrs869025459
hgdprs869025459
ensemblrs869025459
geneviewrs869025459
scholarrs869025459
googlers869025459
pharmgkbrs869025459
gwascentralrs869025459
openSNPrs869025459
23andMers869025459
SNPshotrs869025459
SNPdbers869025459
MSV3drs869025459
GWAS Ctlgrs869025459
Max Magnitude6.2
ClinVar
Risk rs869025459(T;T)
Alt rs869025459(T;T)
Reference Rs869025459(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47372853C>A
CLNSRC
CLNACC RCV000208292.1,