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rs869025461

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs869025461(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position47333584
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs869025461
dbSNP (classic)rs869025461
ClinGenrs869025461
ebirs869025461
HLIrs869025461
Exacrs869025461
Gnomadrs869025461
Varsomers869025461
LitVarrs869025461
Maprs869025461
PheGenIrs869025461
Biobankrs869025461
1000 genomesrs869025461
hgdprs869025461
ensemblrs869025461
geneviewrs869025461
scholarrs869025461
googlers869025461
pharmgkbrs869025461
gwascentralrs869025461
openSNPrs869025461
23andMers869025461
SNPshotrs869025461
SNPdbers869025461
MSV3drs869025461
GWAS Ctlgrs869025461
Max Magnitude6.2
ClinVar
Risk rs869025461(T;T)
Alt rs869025461(T;T)
Reference Rs869025461(A;A)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47355135T>A
CLNSRC
CLNACC RCV000208447.1,