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rs397515910

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 6.2 Familial Hypertrophic Cardiomyopathy
(T;T) 0 common in clinvar
Make rs397515910(G;G)
Make rs397515910(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47342627
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515910
dbSNP (classic)rs397515910
ClinGenrs397515910
ebirs397515910
HLIrs397515910
Exacrs397515910
Gnomadrs397515910
Varsomers397515910
LitVarrs397515910
Maprs397515910
PheGenIrs397515910
Biobankrs397515910
1000 genomesrs397515910
hgdprs397515910
ensemblrs397515910
geneviewrs397515910
scholarrs397515910
googlers397515910
pharmgkbrs397515910
gwascentralrs397515910
openSNPrs397515910
23andMers397515910
SNPshotrs397515910
SNPdbers397515910
MSV3drs397515910
GWAS Ctlgrs397515910
Max Magnitude6.2
ClinVar
Risk rs397515910(A;A) rs397515910(G;G)
Alt rs397515910(A;A) rs397515910(G;G)
Reference Rs397515910(T;T)
Significance Other
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47364178A>C; NC_000011.9:g.47364178A>T
CLNSRC ClinVar
CLNACC RCV000035413.5, RCV000208299.1,