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rs397515943

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCCT;CCCT) 0 common in clinvar
Make rs397515943(CCCT;GG)
Make rs397515943(GG;GG)
ReferenceGRCh38 38.1/141
Chromosome11
Position47339702
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515943
ebirs397515943
HLIrs397515943
Exacrs397515943
Varsomers397515943
Maprs397515943
PheGenIrs397515943
hapmaprs397515943
1000 genomesrs397515943
hgdprs397515943
ensemblrs397515943
gopubmedrs397515943
geneviewrs397515943
scholarrs397515943
googlers397515943
pharmgkbrs397515943
gwascentralrs397515943
openSNPrs397515943
23andMers397515943
23andMe allrs397515943
SNP Nexus

SNPshotrs397515943
SNPdbers397515943
MSV3drs397515943
GWAS Ctlgrs397515943
Max Magnitude0
ClinVar
Risk rs397515943(GG;GG)
Alt rs397515943(GG;GG)
Reference rs397515943(CCCT;CCCT)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47361253_47361256delAGGGinsCC
CLNSRC ClinVar
CLNACC RCV000035460.2,