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rs121913629

From SNPedia

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


Make rs121913629(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position23423984
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913629
dbSNP (classic)rs121913629
ClinGenrs121913629
ebirs121913629
HLIrs121913629
Exacrs121913629
Gnomadrs121913629
Varsomers121913629
LitVarrs121913629
Maprs121913629
PheGenIrs121913629
Biobankrs121913629
1000 genomesrs121913629
hgdprs121913629
ensemblrs121913629
geneviewrs121913629
scholarrs121913629
googlers121913629
pharmgkbrs121913629
gwascentralrs121913629
openSNPrs121913629
23andMers121913629
SNPshotrs121913629
SNPdbers121913629
MSV3drs121913629
GWAS Ctlgrs121913629
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
Variant0007
Relatedalso
ClinVar
Risk rs121913629(A;A)
Alt rs121913629(A;A)
Reference Rs121913629(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1 not specified
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 not specified
Reversed 1
HGVS NC_000014.8:g.23893193C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015149.26, RCV000154208.2,