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rs121913640

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913640(C;C)
Make rs121913640(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23429867
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913640
ebirs121913640
HLIrs121913640
Exacrs121913640
Varsomers121913640
Maprs121913640
PheGenIrs121913640
hapmaprs121913640
1000 genomesrs121913640
hgdprs121913640
ensemblrs121913640
gopubmedrs121913640
geneviewrs121913640
scholarrs121913640
googlers121913640
pharmgkbrs121913640
gwascentralrs121913640
openSNPrs121913640
23andMers121913640
23andMe allrs121913640
SNP Nexus

SNPshotrs121913640
SNPdbers121913640
MSV3drs121913640
GWAS Ctlgrs121913640
Max Magnitude0
OMIM160760
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121913640(C;C)
Alt rs121913640(C;C)
Reference rs121913640(T;T)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1 not specified
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 not specified
Reversed 1
HGVS NC_000014.8:g.23899076A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015150.25, RCV000127019.2,