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rs397516008

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397516008(-;-)
Make rs397516008(-;T)
Make rs397516008(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47333297
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516008
ebirs397516008
HLIrs397516008
Exacrs397516008
Varsomers397516008
Maprs397516008
PheGenIrs397516008
hapmaprs397516008
1000 genomesrs397516008
hgdprs397516008
ensemblrs397516008
gopubmedrs397516008
geneviewrs397516008
scholarrs397516008
googlers397516008
pharmgkbrs397516008
gwascentralrs397516008
openSNPrs397516008
23andMers397516008
23andMe allrs397516008
SNP Nexus

SNPshotrs397516008
SNPdbers397516008
MSV3drs397516008
GWAS Ctlgrs397516008
Max Magnitude0
ClinVar
Risk rs397516008(T;T)
Alt rs397516008(T;T)
Reference Rs397516008(;)
Significance Pathogenic
Disease not provided Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Variation info
Gene MYBPC3
CLNDBN not provided Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed 1
HGVS NC_000011.9:g.47354848_47354849insA
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000158395.2, RCV000211818.2, RCV000252468.1,