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rs397516020

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516020(A;A)
Make rs397516020(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47332813
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516020
ebirs397516020
HLIrs397516020
Exacrs397516020
Varsomers397516020
Maprs397516020
PheGenIrs397516020
hapmaprs397516020
1000 genomesrs397516020
hgdprs397516020
ensemblrs397516020
gopubmedrs397516020
geneviewrs397516020
scholarrs397516020
googlers397516020
pharmgkbrs397516020
gwascentralrs397516020
openSNPrs397516020
23andMers397516020
23andMe allrs397516020
SNP Nexus

SNPshotrs397516020
SNPdbers397516020
MSV3drs397516020
GWAS Ctlgrs397516020
Max Magnitude0
ClinVar
Risk rs397516020(A,T;A,T)
Alt rs397516020(A,T;A,T)
Reference rs397516020(G;G)
Significance Pathogenic
Disease not provided Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not provided Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354364C>A; NC_000011.9:g.47354364C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000158238.2, RCV000009137.5, RCV000211824.1,