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rs121913642

From SNPedia

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


Make rs121913642(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position23427879
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913642
dbSNP (classic)rs121913642
ClinGenrs121913642
ebirs121913642
HLIrs121913642
Exacrs121913642
Gnomadrs121913642
Varsomers121913642
LitVarrs121913642
Maprs121913642
PheGenIrs121913642
Biobankrs121913642
1000 genomesrs121913642
hgdprs121913642
ensemblrs121913642
geneviewrs121913642
scholarrs121913642
googlers121913642
pharmgkbrs121913642
gwascentralrs121913642
openSNPrs121913642
23andMers121913642
SNPshotrs121913642
SNPdbers121913642
MSV3drs121913642
GWAS Ctlgrs121913642
Max Magnitude6.2
OMIM160760
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121913642(C;C)
Alt rs121913642(C;C)
Reference Rs121913642(T;T)
Significance Pathogenic
Disease Dilated cardiomyopathy 1S Primary dilated cardiomyopathy
Variation info
Gene MYH7
CLNDBN Dilated cardiomyopathy 1S Primary dilated cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23897088A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015164.27, RCV000211832.1,