Have questions? Visit https://www.reddit.com/r/SNPedia

rs121913627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Familial hypertrophic cardiomyopathy (possible)
(G;G) 0 common in clinvar


Make rs121913627(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position23427657
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913627
dbSNP (old)rs121913627
ClinGenrs121913627
ebirs121913627
HLIrs121913627
Exacrs121913627
Gnomadrs121913627
Varsomers121913627
Maprs121913627
PheGenIrs121913627
Biobankrs121913627
1000 genomesrs121913627
hgdprs121913627
ensemblrs121913627
gopubmedrs121913627
geneviewrs121913627
scholarrs121913627
googlers121913627
pharmgkbrs121913627
gwascentralrs121913627
openSNPrs121913627
23andMers121913627
23andMe allrs121913627
SNP Nexus

SNPshotrs121913627
SNPdbers121913627
MSV3drs121913627
GWAS Ctlgrs121913627
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
Variant0005
Relatedalso
ClinVar
Risk rs121913627(A;A)
Alt rs121913627(A;A)
Reference Rs121913627(G;G)
Significance Other
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.23896866C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015147.29, RCV000035750.6, RCV000223823.1, RCV000252267.1, RCV000473084.1,