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rs121913625

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Familial hypertrophic cardiomyopathy (possible)
Make rs121913625(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23429005
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913625
dbSNP (old)rs121913625
ClinGenrs121913625
ebirs121913625
HLIrs121913625
Exacrs121913625
Gnomadrs121913625
Varsomers121913625
Maprs121913625
PheGenIrs121913625
Biobankrs121913625
1000 genomesrs121913625
hgdprs121913625
ensemblrs121913625
gopubmedrs121913625
geneviewrs121913625
scholarrs121913625
googlers121913625
pharmgkbrs121913625
gwascentralrs121913625
openSNPrs121913625
23andMers121913625
23andMe allrs121913625
SNP Nexus

SNPshotrs121913625
SNPdbers121913625
MSV3drs121913625
GWAS Ctlgrs121913625
Max Magnitude6
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].
OMIM160760
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913625(A;A) rs121913625(T;T)
Alt rs121913625(A;A) rs121913625(T;T)
Reference Rs121913625(C;C)
Significance Other
Disease Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Familial restrictive cardiomyopathy not specified
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Familial restrictive cardiomyopathy not specified
Reversed 1
HGVS NC_000014.8:g.23898214G>A; NC_000014.8:g.23898214G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015145.27, RCV000035717.4, RCV000158799.3, RCV000230258.2, RCV000487453.1, RCV000015190.22, RCV000154254.2,