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rs397516070

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397516070(A;C)
Make rs397516070(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position47348486
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516070
ebirs397516070
HLIrs397516070
Exacrs397516070
Varsomers397516070
Maprs397516070
PheGenIrs397516070
hapmaprs397516070
1000 genomesrs397516070
hgdprs397516070
ensemblrs397516070
gopubmedrs397516070
geneviewrs397516070
scholarrs397516070
googlers397516070
pharmgkbrs397516070
gwascentralrs397516070
openSNPrs397516070
23andMers397516070
23andMe allrs397516070
SNP Nexus

SNPshotrs397516070
SNPdbers397516070
MSV3drs397516070
GWAS Ctlgrs397516070
Max Magnitude0
ClinVar
Risk rs397516070(C;C)
Alt rs397516070(C;C)
Reference rs397516070(A;A)
Significance Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47370037T>G
CLNSRC ClinVar
CLNACC RCV000158307.3, RCV000208413.2,