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rs377225516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs377225516(G;G)
Make rs377225516(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47351347
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs377225516
dbSNP (classic)rs377225516
ClinGenrs377225516
ebirs377225516
HLIrs377225516
Exacrs377225516
Gnomadrs377225516
Varsomers377225516
LitVarrs377225516
Maprs377225516
PheGenIrs377225516
Biobankrs377225516
1000 genomesrs377225516
hgdprs377225516
ensemblrs377225516
geneviewrs377225516
scholarrs377225516
googlers377225516
pharmgkbrs377225516
gwascentralrs377225516
openSNPrs377225516
23andMers377225516
SNPshotrs377225516
SNPdbers377225516
MSV3drs377225516
GWAS Ctlgrs377225516
Max Magnitude0
ClinVar
Risk rs377225516(G;G)
Alt rs377225516(G;G)
Reference Rs377225516(T;T)
Significance Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000011.9:g.47372898T>G
CLNSRC
CLNACC RCV000035444.5, RCV000148667.1, RCV000475481.1,