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rs397516044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516044(A;A)
Make rs397516044(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47331882
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516044
ebirs397516044
HLIrs397516044
Exacrs397516044
Varsomers397516044
Maprs397516044
PheGenIrs397516044
hapmaprs397516044
1000 genomesrs397516044
hgdprs397516044
ensemblrs397516044
gopubmedrs397516044
geneviewrs397516044
scholarrs397516044
googlers397516044
pharmgkbrs397516044
gwascentralrs397516044
openSNPrs397516044
23andMers397516044
23andMe allrs397516044
SNP Nexus

SNPshotrs397516044
SNPdbers397516044
MSV3drs397516044
GWAS Ctlgrs397516044
Max Magnitude0
ClinVar
Risk rs397516044(A;A)
Alt rs397516044(A;A)
Reference rs397516044(G;G)
Significance Pathogenic
Disease not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47353433C>T
CLNSRC ClinVar
CLNACC RCV000158273.2, RCV000208066.2,