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rs397515905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 Familial hypertrophic cardiomyopathy (possible)
Make rs397515905(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47342719
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515905
ebirs397515905
HLIrs397515905
Exacrs397515905
Varsomers397515905
Maprs397515905
PheGenIrs397515905
hapmaprs397515905
1000 genomesrs397515905
hgdprs397515905
ensemblrs397515905
gopubmedrs397515905
geneviewrs397515905
scholarrs397515905
googlers397515905
pharmgkbrs397515905
gwascentralrs397515905
openSNPrs397515905
23andMers397515905
23andMe allrs397515905
SNP Nexus

SNPshotrs397515905
SNPdbers397515905
MSV3drs397515905
GWAS Ctlgrs397515905
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].
ClinVar
Risk rs397515905(A;A) rs397515905(G;G) rs397515905(T;T)
Alt rs397515905(A;A) rs397515905(G;G) rs397515905(T;T)
Reference Rs397515905(C;C)
Significance Pathogenic
Disease not specified not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47364270G>A; NC_000011.9:g.47364270G>C
CLNSRC Children's Hospital of Eastern Ontario UniProtKB (protein)
CLNACC RCV000151132.1, RCV000158093.2, RCV000211726.2,