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rs121913635

From SNPedia

Merged intors121913624
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913635(G;T)
Make rs121913635(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23429278
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913635
dbSNP (classic)rs121913635
ClinGenrs121913635
ebirs121913635
HLIrs121913635
Exacrs121913635
Gnomadrs121913635
Varsomers121913635
LitVarrs121913635
Maprs121913635
PheGenIrs121913635
Biobankrs121913635
1000 genomesrs121913635
hgdprs121913635
ensemblrs121913635
geneviewrs121913635
scholarrs121913635
googlers121913635
pharmgkbrs121913635
gwascentralrs121913635
openSNPrs121913635
23andMers121913635
SNPshotrs121913635
SNPdbers121913635
MSV3drs121913635
GWAS Ctlgrs121913635
StatusMerged into rs121913624
Max Magnitude0
OMIM160760
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121913635(T;T)
Alt rs121913635(T;T)
Reference Rs121913635(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000014.8:g.23898487C>A
CLNSRC OMIM Allelic Variant
CLNACC SCV000035414.1,