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rs397516053

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516053(A;A)
Make rs397516053(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47350038
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516053
ebirs397516053
HLIrs397516053
Exacrs397516053
Varsomers397516053
Maprs397516053
PheGenIrs397516053
hapmaprs397516053
1000 genomesrs397516053
hgdprs397516053
ensemblrs397516053
gopubmedrs397516053
geneviewrs397516053
scholarrs397516053
googlers397516053
pharmgkbrs397516053
gwascentralrs397516053
openSNPrs397516053
23andMers397516053
23andMe allrs397516053
SNP Nexus

SNPshotrs397516053
SNPdbers397516053
MSV3drs397516053
GWAS Ctlgrs397516053
Max Magnitude0
ClinVar
Risk rs397516053(A;A)
Alt rs397516053(A;A)
Reference rs397516053(C;C)
Significance Probable-Pathogenic
Disease not specified not provided Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified not provided Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47371589G>T
CLNSRC
CLNACC RCV000035634.2, RCV000158284.2, RCV000228800.1,