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rs121913637

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913637(C;T)
Make rs121913637(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23425971
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913637
ebirs121913637
HLIrs121913637
Exacrs121913637
Varsomers121913637
Maprs121913637
PheGenIrs121913637
hapmaprs121913637
1000 genomesrs121913637
hgdprs121913637
ensemblrs121913637
gopubmedrs121913637
geneviewrs121913637
scholarrs121913637
googlers121913637
pharmgkbrs121913637
gwascentralrs121913637
openSNPrs121913637
23andMers121913637
23andMe allrs121913637
SNP Nexus

SNPshotrs121913637
SNPdbers121913637
MSV3drs121913637
GWAS Ctlgrs121913637
Max Magnitude0
OMIM160760
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121913637(T;T)
Alt rs121913637(T;T)
Reference rs121913637(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000014.8:g.23895180G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015160.26, RCV000035768.3, RCV000158512.2,