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

rs397514752

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514752(G;T)
Make rs397514752(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47342733
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397514752
ebirs397514752
HLIrs397514752
Exacrs397514752
Varsomers397514752
Maprs397514752
PheGenIrs397514752
hapmaprs397514752
1000 genomesrs397514752
hgdprs397514752
ensemblrs397514752
gopubmedrs397514752
geneviewrs397514752
scholarrs397514752
googlers397514752
pharmgkbrs397514752
gwascentralrs397514752
openSNPrs397514752
23andMers397514752
23andMe allrs397514752
SNP Nexus

SNPshotrs397514752
SNPdbers397514752
MSV3drs397514752
GWAS Ctlgrs397514752
Max Magnitude0
ClinVar
Risk rs397514752(A,T;A,T)
Alt rs397514752(A,T;A,T)
Reference rs397514752(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4
Reversed 1
HGVS NC_000011.9:g.47364284C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054804.3,