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

rs397516077

From SNPedia

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


Make rs397516077(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position47347852
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516077
ClinGenrs397516077
ebirs397516077
HLIrs397516077
Exacrs397516077
Varsomers397516077
Maprs397516077
PheGenIrs397516077
hapmaprs397516077
1000 genomesrs397516077
hgdprs397516077
ensemblrs397516077
gopubmedrs397516077
geneviewrs397516077
scholarrs397516077
googlers397516077
pharmgkbrs397516077
gwascentralrs397516077
openSNPrs397516077
23andMers397516077
23andMe allrs397516077
SNP Nexus

SNPshotrs397516077
SNPdbers397516077
MSV3drs397516077
GWAS Ctlgrs397516077
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 rs397516077(A;A)
Alt rs397516077(A;A)
Reference Rs397516077(G;G)
Significance Other
Disease Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47369403C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009138.7, RCV000211731.1,