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rs121913646

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913646(C;T)
Make rs121913646(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23427271
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913646
dbSNP (classic)rs121913646
ClinGenrs121913646
ebirs121913646
HLIrs121913646
Exacrs121913646
Gnomadrs121913646
Varsomers121913646
LitVarrs121913646
Maprs121913646
PheGenIrs121913646
Biobankrs121913646
1000 genomesrs121913646
hgdprs121913646
ensemblrs121913646
geneviewrs121913646
scholarrs121913646
googlers121913646
pharmgkbrs121913646
gwascentralrs121913646
openSNPrs121913646
23andMers121913646
SNPshotrs121913646
SNPdbers121913646
MSV3drs121913646
GWAS Ctlgrs121913646
Max Magnitude0
OMIM160760
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121913646(T;T)
Alt rs121913646(T;T)
Reference Rs121913646(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 1S
Variation info
Gene MYH7
CLNDBN Dilated cardiomyopathy 1S
Reversed 1
HGVS NC_000014.8:g.23896480G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015169.27,