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rs121909374

From SNPedia

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


Make rs121909374(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position47342578
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs121909374
dbSNP (old)rs121909374
ClinGenrs121909374
ebirs121909374
HLIrs121909374
Exacrs121909374
Gnomadrs121909374
Varsomers121909374
Maprs121909374
PheGenIrs121909374
Biobankrs121909374
1000 genomesrs121909374
hgdprs121909374
ensemblrs121909374
gopubmedrs121909374
geneviewrs121909374
scholarrs121909374
googlers121909374
pharmgkbrs121909374
gwascentralrs121909374
openSNPrs121909374
23andMers121909374
23andMe allrs121909374
SNP Nexus

SNPshotrs121909374
SNPdbers121909374
MSV3drs121909374
GWAS Ctlgrs121909374
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].
OMIM600958
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909374(C;C)
Alt rs121909374(C;C)
Reference Rs121909374(G;G)
Significance Other
Disease not provided Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Cardiovascular phenotype
Variation info
Gene MYBPC3
CLNDBN not provided Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Cardiovascular phenotype
Reversed 1
HGVS NC_000011.9:g.47364129C>A; NC_000011.9:g.47364129C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000494171.1, RCV000009139.8, RCV000035424.5, RCV000158104.4, RCV000199033.3, RCV000201915.1, RCV000247235.1,