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rs397516023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516023(-;-)
Make rs397516023(-;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position47350558
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516023
ebirs397516023
HLIrs397516023
Exacrs397516023
Varsomers397516023
Maprs397516023
PheGenIrs397516023
hapmaprs397516023
1000 genomesrs397516023
hgdprs397516023
ensemblrs397516023
gopubmedrs397516023
geneviewrs397516023
scholarrs397516023
googlers397516023
pharmgkbrs397516023
gwascentralrs397516023
openSNPrs397516023
23andMers397516023
23andMe allrs397516023
SNP Nexus

SNPshotrs397516023
SNPdbers397516023
MSV3drs397516023
GWAS Ctlgrs397516023
Max Magnitude0
ClinVar
Risk rs397516023(;)
Alt rs397516023(;)
Reference rs397516023(C;C)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47372109delG
CLNSRC ClinVar
CLNACC RCV000035593.2,