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rs121913643

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913643(C;G)
Make rs121913643(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23425413
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913643
dbSNP (classic)rs121913643
ClinGenrs121913643
ebirs121913643
HLIrs121913643
Exacrs121913643
Gnomadrs121913643
Varsomers121913643
LitVarrs121913643
Maprs121913643
PheGenIrs121913643
Biobankrs121913643
1000 genomesrs121913643
hgdprs121913643
ensemblrs121913643
geneviewrs121913643
scholarrs121913643
googlers121913643
pharmgkbrs121913643
gwascentralrs121913643
openSNPrs121913643
23andMers121913643
SNPshotrs121913643
SNPdbers121913643
MSV3drs121913643
GWAS Ctlgrs121913643
Max Magnitude0
OMIM160760
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121913643(G;G)
Alt rs121913643(G;G)
Reference Rs121913643(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 1S
Variation info
Gene MYH7
CLNDBN Dilated cardiomyopathy 1S
Reversed 1
HGVS NC_000014.8:g.23894622G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015165.26,