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rs121913644

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913644(C;T)
Make rs121913644(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23425798
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913644
dbSNP (classic)rs121913644
ClinGenrs121913644
ebirs121913644
HLIrs121913644
Exacrs121913644
Gnomadrs121913644
Varsomers121913644
LitVarrs121913644
Maprs121913644
PheGenIrs121913644
Biobankrs121913644
1000 genomesrs121913644
hgdprs121913644
ensemblrs121913644
geneviewrs121913644
scholarrs121913644
googlers121913644
pharmgkbrs121913644
gwascentralrs121913644
openSNPrs121913644
23andMers121913644
SNPshotrs121913644
SNPdbers121913644
MSV3drs121913644
GWAS Ctlgrs121913644
Max Magnitude0
OMIM160760
Desc
Variant0025
Relatedalso
ClinVar
Risk rs121913644(T;T)
Alt rs121913644(T;T)
Reference Rs121913644(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1 not specified Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 not specified Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23895007G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015167.26, RCV000035776.4, RCV000148699.1,