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rs121913645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913645(A;A)
Make rs121913645(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23431650
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913645
dbSNP (classic)rs121913645
ClinGenrs121913645
ebirs121913645
HLIrs121913645
Exacrs121913645
Gnomadrs121913645
Varsomers121913645
LitVarrs121913645
Maprs121913645
PheGenIrs121913645
Biobankrs121913645
1000 genomesrs121913645
hgdprs121913645
ensemblrs121913645
geneviewrs121913645
scholarrs121913645
googlers121913645
pharmgkbrs121913645
gwascentralrs121913645
openSNPrs121913645
23andMers121913645
SNPshotrs121913645
SNPdbers121913645
MSV3drs121913645
GWAS Ctlgrs121913645
Max Magnitude0
OMIM160760
Desc
Variant0026
Relatedalso
ClinVar
Risk rs121913645(A;A)
Alt rs121913645(A;A)
Reference Rs121913645(G;G)
Significance Pathogenic
Disease Dilated cardiomyopathy 1S
Variation info
Gene MYH7
CLNDBN Dilated cardiomyopathy 1S
Reversed 1
HGVS NC_000014.8:g.23900859C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015168.22,