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rs397516072

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516072(A;A)
Make rs397516072(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47348423
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516072
ebirs397516072
HLIrs397516072
Exacrs397516072
Varsomers397516072
Maprs397516072
PheGenIrs397516072
hapmaprs397516072
1000 genomesrs397516072
hgdprs397516072
ensemblrs397516072
gopubmedrs397516072
geneviewrs397516072
scholarrs397516072
googlers397516072
pharmgkbrs397516072
gwascentralrs397516072
openSNPrs397516072
23andMers397516072
23andMe allrs397516072
SNP Nexus

SNPshotrs397516072
SNPdbers397516072
MSV3drs397516072
GWAS Ctlgrs397516072
Max Magnitude0
ClinVar
Risk rs397516072(A;A)
Alt rs397516072(A;A)
Reference rs397516072(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47369974C>T
CLNSRC ClinVar
CLNACC RCV000035666.5, RCV000204012.1, RCV000211829.1,