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rs121913651

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.2 Familial Hypertrophic Cardiomyopathy
(G;G) 0 common in clinvar


Make rs121913651(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position23428631
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913651
dbSNP (classic)rs121913651
ClinGenrs121913651
ebirs121913651
HLIrs121913651
Exacrs121913651
Gnomadrs121913651
Varsomers121913651
LitVarrs121913651
Maprs121913651
PheGenIrs121913651
Biobankrs121913651
1000 genomesrs121913651
hgdprs121913651
ensemblrs121913651
geneviewrs121913651
scholarrs121913651
googlers121913651
pharmgkbrs121913651
gwascentralrs121913651
openSNPrs121913651
23andMers121913651
SNPshotrs121913651
SNPdbers121913651
MSV3drs121913651
GWAS Ctlgrs121913651
Max Magnitude6.2
OMIM160760
Desc
Variant0033
Relatedalso
ClinVar
Risk rs121913651(A;A)
Alt rs121913651(A;A)
Reference Rs121913651(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.23897840C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015176.26,