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rs121913638

From SNPedia

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


Make rs121913638(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position23425980
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913638
ClinGenrs121913638
ebirs121913638
HLIrs121913638
Exacrs121913638
Varsomers121913638
Maprs121913638
PheGenIrs121913638
hapmaprs121913638
1000 genomesrs121913638
hgdprs121913638
ensemblrs121913638
gopubmedrs121913638
geneviewrs121913638
scholarrs121913638
googlers121913638
pharmgkbrs121913638
gwascentralrs121913638
openSNPrs121913638
23andMers121913638
23andMe allrs121913638
SNP Nexus

SNPshotrs121913638
SNPdbers121913638
MSV3drs121913638
GWAS Ctlgrs121913638
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
Variant0018
Relatedalso
ClinVar
Risk rs121913638(A;A)
Alt rs121913638(A;A)
Reference Rs121913638(G;G)
Significance Other
Disease Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided not specified Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided not specified Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23895189C>T
CLNSRC Children's Hospital of Eastern Ontario OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015161.26, RCV000035767.2, RCV000158511.2, RCV000168863.1, RCV000233499.1,