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rs121913654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913654(C;C)
Make rs121913654(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23415176
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913654
ebirs121913654
HLIrs121913654
Exacrs121913654
Varsomers121913654
Maprs121913654
PheGenIrs121913654
hapmaprs121913654
1000 genomesrs121913654
hgdprs121913654
ensemblrs121913654
gopubmedrs121913654
geneviewrs121913654
scholarrs121913654
googlers121913654
pharmgkbrs121913654
gwascentralrs121913654
openSNPrs121913654
23andMers121913654
23andMe allrs121913654
SNP Nexus

SNPshotrs121913654
SNPdbers121913654
MSV3drs121913654
GWAS Ctlgrs121913654
Max Magnitude0
OMIM160760
Desc
Variant0037
Relatedalso
ClinVar
Risk rs121913654(C;C)
Alt rs121913654(C;C)
Reference rs121913654(T;T)
Significance Other
Disease Myosin storage myopathy Familial hypertrophic cardiomyopathy 1 Left ventricular noncompaction 5 not provided
Variation info
Gene MYH7 MHRT
CLNDBN Myosin storage myopathy Familial hypertrophic cardiomyopathy 1 Left ventricular noncompaction 5 not provided
Reversed 1
HGVS NC_000014.8:g.23884385A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015181.26, RCV000015182.26, RCV000015183.26, RCV000158696.1,