Have questions? Visit https://www.reddit.com/r/SNPedia

rs397516006

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.2 Familial Hypertrophic Cardiomyopathy
(G;G) 0 common in clinvar


Make rs397516006(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position47333291
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516006
dbSNP (classic)rs397516006
ClinGenrs397516006
ebirs397516006
HLIrs397516006
Exacrs397516006
Gnomadrs397516006
Varsomers397516006
LitVarrs397516006
Maprs397516006
PheGenIrs397516006
Biobankrs397516006
1000 genomesrs397516006
hgdprs397516006
ensemblrs397516006
geneviewrs397516006
scholarrs397516006
googlers397516006
pharmgkbrs397516006
gwascentralrs397516006
openSNPrs397516006
23andMers397516006
SNPshotrs397516006
SNPdbers397516006
MSV3drs397516006
GWAS Ctlgrs397516006
Max Magnitude6.2
ClinVar
Risk rs397516006(A;A)
Alt rs397516006(A;A)
Reference Rs397516006(G;G)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354842C>T
CLNSRC ClinVar
CLNACC RCV000035565.3,