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rs863224483

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224483(C;T)
Make rs863224483(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47339653
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs863224483
dbSNP (classic)rs863224483
ClinGenrs863224483
ebirs863224483
HLIrs863224483
Exacrs863224483
Gnomadrs863224483
Varsomers863224483
LitVarrs863224483
Maprs863224483
PheGenIrs863224483
Biobankrs863224483
1000 genomesrs863224483
hgdprs863224483
ensemblrs863224483
geneviewrs863224483
scholarrs863224483
googlers863224483
pharmgkbrs863224483
gwascentralrs863224483
openSNPrs863224483
23andMers863224483
SNPshotrs863224483
SNPdbers863224483
MSV3drs863224483
GWAS Ctlgrs863224483
Max Magnitude0
ClinVar
Risk rs863224483(T;T)
Alt rs863224483(T;T)
Reference Rs863224483(C;C)
Significance Pathogenic
Disease Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4
Variation info
Gene MYBPC3
CLNDBN Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4
Reversed 1
HGVS NC_000011.9:g.47361204G>A
CLNSRC
CLNACC RCV000200586.1, RCV000201469.1,