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rs397516037

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516037(C;T)
Make rs397516037(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47332189
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516037
dbSNP (classic)rs397516037
ClinGenrs397516037
ebirs397516037
HLIrs397516037
Exacrs397516037
Gnomadrs397516037
Varsomers397516037
LitVarrs397516037
Maprs397516037
PheGenIrs397516037
Biobankrs397516037
1000 genomesrs397516037
hgdprs397516037
ensemblrs397516037
geneviewrs397516037
scholarrs397516037
googlers397516037
pharmgkbrs397516037
gwascentralrs397516037
openSNPrs397516037
23andMers397516037
SNPshotrs397516037
SNPdbers397516037
MSV3drs397516037
GWAS Ctlgrs397516037
Max Magnitude0
ClinVar
Risk rs397516037(T;T)
Alt rs397516037(T;T)
Reference Rs397516037(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47353740G>A
CLNSRC Children's Hospital of Eastern Ontario University Hospital of Geneva
CLNACC RCV000035610.6, RCV000158254.4, RCV000168193.2, RCV000208463.1,