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rs121909376

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909376(A;C)
Make rs121909376(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position47335104
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs121909376
dbSNP (classic)rs121909376
ClinGenrs121909376
ebirs121909376
HLIrs121909376
Exacrs121909376
Gnomadrs121909376
Varsomers121909376
LitVarrs121909376
Maprs121909376
PheGenIrs121909376
Biobankrs121909376
1000 genomesrs121909376
hgdprs121909376
ensemblrs121909376
geneviewrs121909376
scholarrs121909376
googlers121909376
pharmgkbrs121909376
gwascentralrs121909376
openSNPrs121909376
23andMers121909376
SNPshotrs121909376
SNPdbers121909376
MSV3drs121909376
GWAS Ctlgrs121909376
Max Magnitude0
OMIM600958
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121909376(C;C)
Alt rs121909376(C;C)
Reference Rs121909376(A;A)
Significance Pathogenic
Disease Left ventricular noncompaction 10
Variation info
Gene MYBPC3
CLNDBN Left ventricular noncompaction 10
Reversed 1
HGVS NC_000011.9:g.47356655T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009146.6,