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rs397515969

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs397515969(A;A)
Make rs397515969(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47337481
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515969
dbSNP (classic)rs397515969
ClinGenrs397515969
ebirs397515969
HLIrs397515969
Exacrs397515969
Gnomadrs397515969
Varsomers397515969
LitVarrs397515969
Maprs397515969
PheGenIrs397515969
Biobankrs397515969
1000 genomesrs397515969
hgdprs397515969
ensemblrs397515969
geneviewrs397515969
scholarrs397515969
googlers397515969
pharmgkbrs397515969
gwascentralrs397515969
openSNPrs397515969
23andMers397515969
SNPshotrs397515969
SNPdbers397515969
MSV3drs397515969
GWAS Ctlgrs397515969
Max Magnitude6.2
ClinVar
Risk rs397515969(A;A) rs397515969(C;C)
Alt rs397515969(A;A) rs397515969(C;C)
Reference Rs397515969(G;G)
Significance Probable-Pathogenic
Disease not specified
Variation info
Gene MYBPC3
CLNDBN not specified
Reversed 1
HGVS NC_000011.9:g.47359032C>G; NC_000011.9:g.47359032C>T
CLNSRC
CLNACC RCV000156245.1, RCV000035498.2,