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rs863225272

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs863225272(-;-)
Make rs863225272(-;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47332173
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs863225272
dbSNP (classic)rs863225272
ClinGenrs863225272
ebirs863225272
HLIrs863225272
Exacrs863225272
Gnomadrs863225272
Varsomers863225272
LitVarrs863225272
Maprs863225272
PheGenIrs863225272
Biobankrs863225272
1000 genomesrs863225272
hgdprs863225272
ensemblrs863225272
geneviewrs863225272
scholarrs863225272
googlers863225272
pharmgkbrs863225272
gwascentralrs863225272
openSNPrs863225272
23andMers863225272
SNPshotrs863225272
SNPdbers863225272
MSV3drs863225272
GWAS Ctlgrs863225272
Max Magnitude0
ClinVar
Risk rs863225272(-;-)
Alt rs863225272(-;-)
Reference Rs863225272(CT;CT)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000011.9:g.47353724_47353725delAG
CLNSRC
CLNACC RCV000201872.1,