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rs397515992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515992(C;T)
Make rs397515992(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47335042
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515992
ebirs397515992
HLIrs397515992
Exacrs397515992
Varsomers397515992
Maprs397515992
PheGenIrs397515992
hapmaprs397515992
1000 genomesrs397515992
hgdprs397515992
ensemblrs397515992
gopubmedrs397515992
geneviewrs397515992
scholarrs397515992
googlers397515992
pharmgkbrs397515992
gwascentralrs397515992
openSNPrs397515992
23andMers397515992
23andMe allrs397515992
SNP Nexus

SNPshotrs397515992
SNPdbers397515992
MSV3drs397515992
GWAS Ctlgrs397515992
Max Magnitude0
ClinVar
Risk rs397515992(T;T)
Alt rs397515992(T;T)
Reference rs397515992(C;C)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000011.9:g.47356593G>A
CLNSRC ClinVar
CLNACC RCV000035540.2, RCV000158195.2, RCV000201916.1,