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rs121913630

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6.2 Familial Hypertrophic Cardiomyopathy
(C;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs121913630(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23425814
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913630
dbSNP (classic)rs121913630
ClinGenrs121913630
ebirs121913630
HLIrs121913630
Exacrs121913630
Gnomadrs121913630
Varsomers121913630
LitVarrs121913630
Maprs121913630
PheGenIrs121913630
Biobankrs121913630
1000 genomesrs121913630
hgdprs121913630
ensemblrs121913630
geneviewrs121913630
scholarrs121913630
googlers121913630
pharmgkbrs121913630
gwascentralrs121913630
openSNPrs121913630
23andMers121913630
SNPshotrs121913630
SNPdbers121913630
MSV3drs121913630
GWAS Ctlgrs121913630
Max Magnitude6.2

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
Variant0008
Relatedalso
ClinVar
Risk rs121913630(G;G) rs121913630(T;T)
Alt rs121913630(G;G) rs121913630(T;T)
Reference Rs121913630(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23895023G>A; NC_000014.8:g.23895023G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015151.29, RCV000035772.6, RCV000158516.3, RCV000253053.1, RCV000462477.1, RCV000035771.2, RCV000158837.3, RCV000201494.1, RCV000227196.2,