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rs397515942

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515942(A;A)
Make rs397515942(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47339670
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515942
ebirs397515942
HLIrs397515942
Exacrs397515942
Varsomers397515942
Maprs397515942
PheGenIrs397515942
hapmaprs397515942
1000 genomesrs397515942
hgdprs397515942
ensemblrs397515942
gopubmedrs397515942
geneviewrs397515942
scholarrs397515942
googlers397515942
pharmgkbrs397515942
gwascentralrs397515942
openSNPrs397515942
23andMers397515942
23andMe allrs397515942
SNP Nexus

SNPshotrs397515942
SNPdbers397515942
MSV3drs397515942
GWAS Ctlgrs397515942
Max Magnitude0
ClinVar
Risk rs397515942(A;A)
Alt rs397515942(A;A)
Reference rs397515942(G;G)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Cardiomyopathy not provided
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy Cardiomyopathy not provided
Reversed 1
HGVS NC_000011.9:g.47361221C>T
CLNSRC ClinVar
CLNACC RCV000035459.2, RCV000158132.1, RCV000223849.1,