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rs1060499604

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499604(G;T)
Make rs1060499604(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position47339323
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs1060499604
dbSNP (classic)rs1060499604
ClinGenrs1060499604
ebirs1060499604
HLIrs1060499604
Exacrs1060499604
Gnomadrs1060499604
Varsomers1060499604
LitVarrs1060499604
Maprs1060499604
PheGenIrs1060499604
Biobankrs1060499604
1000 genomesrs1060499604
hgdprs1060499604
ensemblrs1060499604
geneviewrs1060499604
scholarrs1060499604
googlers1060499604
pharmgkbrs1060499604
gwascentralrs1060499604
openSNPrs1060499604
23andMers1060499604
SNPshotrs1060499604
SNPdbers1060499604
MSV3drs1060499604
GWAS Ctlgrs1060499604
Max Magnitude0
ClinVar
Risk rs1060499604(T;T)
Alt rs1060499604(T;T)
Reference Rs1060499604(G;G)
Significance Probable-Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 Left ventricular noncompaction 10
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Left ventricular noncompaction 10
Reversed 1
HGVS NC_000011.9:g.47360874C>A
CLNSRC
CLNACC RCV000477839.1,