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rs121913636

From SNPedia

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


Make rs121913636(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23428540
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913636
dbSNP (classic)rs121913636
ClinGenrs121913636
ebirs121913636
HLIrs121913636
Exacrs121913636
Gnomadrs121913636
Varsomers121913636
LitVarrs121913636
Maprs121913636
PheGenIrs121913636
Biobankrs121913636
1000 genomesrs121913636
hgdprs121913636
ensemblrs121913636
geneviewrs121913636
scholarrs121913636
googlers121913636
pharmgkbrs121913636
gwascentralrs121913636
openSNPrs121913636
23andMers121913636
SNPshotrs121913636
SNPdbers121913636
MSV3drs121913636
GWAS Ctlgrs121913636
Max Magnitude6.2
OMIM160760
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121913636(G;G)
Alt rs121913636(G;G)
Reference Rs121913636(T;T)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000014.8:g.23897749A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015159.22,