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rs121913653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913653(C;T)
Make rs121913653(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23429040
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913653
ebirs121913653
HLIrs121913653
Exacrs121913653
Varsomers121913653
Maprs121913653
PheGenIrs121913653
hapmaprs121913653
1000 genomesrs121913653
hgdprs121913653
ensemblrs121913653
gopubmedrs121913653
geneviewrs121913653
scholarrs121913653
googlers121913653
pharmgkbrs121913653
gwascentralrs121913653
openSNPrs121913653
23andMers121913653
23andMe allrs121913653
SNP Nexus

SNPshotrs121913653
SNPdbers121913653
MSV3drs121913653
GWAS Ctlgrs121913653
Max Magnitude0
OMIM160760
Desc
Variant0036
Relatedalso
ClinVar
Risk rs121913653(T;T)
Alt rs121913653(T;T)
Reference rs121913653(C;C)
Significance Pathogenic
Disease Laing distal myopathy not specified Hypertrophic cardiomyopathy Myopathy
Variation info
Gene MYH7
CLNDBN Laing distal myopathy not specified Hypertrophic cardiomyopathy Myopathy, distal, 1
Reversed 1
HGVS NC_000014.8:g.23898249G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015180.25, RCV000035714.3, RCV000168124.1, RCV000192200.1,