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rs863225111

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs863225111(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47351303
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs863225111
dbSNP (classic)rs863225111
ClinGenrs863225111
ebirs863225111
HLIrs863225111
Exacrs863225111
Gnomadrs863225111
Varsomers863225111
LitVarrs863225111
Maprs863225111
PheGenIrs863225111
Biobankrs863225111
1000 genomesrs863225111
hgdprs863225111
ensemblrs863225111
geneviewrs863225111
scholarrs863225111
googlers863225111
pharmgkbrs863225111
gwascentralrs863225111
openSNPrs863225111
23andMers863225111
SNPshotrs863225111
SNPdbers863225111
MSV3drs863225111
GWAS Ctlgrs863225111
Max Magnitude6.2
ClinVar
Risk rs863225111(A;A)
Alt rs863225111(A;A)
Reference Rs863225111(-;-)
Significance Probable-Pathogenic
Disease Familial hypertrophic cardiomyopathy 4
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4
Reversed 1
HGVS NC_000011.9:g.47372855dupT
CLNSRC
CLNACC RCV000201490.1,