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rs397515972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGATGCGCG;AGATGCGCG) 0 common in clinvar
Make rs397515972(-;-)
Make rs397515972(-;AGATGCGCG)
ReferenceGRCh38 38.1/141
Chromosome11
Position47337457
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515972
ebirs397515972
HLIrs397515972
Exacrs397515972
Varsomers397515972
Maprs397515972
PheGenIrs397515972
hapmaprs397515972
1000 genomesrs397515972
hgdprs397515972
ensemblrs397515972
gopubmedrs397515972
geneviewrs397515972
scholarrs397515972
googlers397515972
pharmgkbrs397515972
gwascentralrs397515972
openSNPrs397515972
23andMers397515972
23andMe allrs397515972
SNP Nexus

SNPshotrs397515972
SNPdbers397515972
MSV3drs397515972
GWAS Ctlgrs397515972
Max Magnitude0
ClinVar
Risk rs397515972(;)
Alt rs397515972(;)
Reference rs397515972(AGATGCGCG;AGATGCGCG)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47359008_47359016delCGCGCATCT
CLNSRC ClinVar
CLNACC RCV000035502.2,