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rs397515975

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Make rs397515975(CG;TCT)
Make rs397515975(TCT;TCT)
ReferenceGRCh38 38.1/141
Chromosome11
Position47337436
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515975
ebirs397515975
HLIrs397515975
Exacrs397515975
Varsomers397515975
Maprs397515975
PheGenIrs397515975
hapmaprs397515975
1000 genomesrs397515975
hgdprs397515975
ensemblrs397515975
gopubmedrs397515975
geneviewrs397515975
scholarrs397515975
googlers397515975
pharmgkbrs397515975
gwascentralrs397515975
openSNPrs397515975
23andMers397515975
23andMe allrs397515975
SNP Nexus

SNPshotrs397515975
SNPdbers397515975
MSV3drs397515975
GWAS Ctlgrs397515975
Max Magnitude0
ClinVar
Risk rs397515975(TCT;TCT)
Alt rs397515975(TCT;TCT)
Reference rs397515975(CG;CG)
Significance Pathogenic
Disease not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47358987_47358988delCGinsAGA
CLNSRC ClinVar
CLNACC RCV000158369.2, RCV000208351.2,