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rs397516022

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397516022(A;T)
Make rs397516022(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47332704
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516022
ClinGenrs397516022
ebirs397516022
HLIrs397516022
Exacrs397516022
Varsomers397516022
Maprs397516022
PheGenIrs397516022
hapmaprs397516022
1000 genomesrs397516022
hgdprs397516022
ensemblrs397516022
gopubmedrs397516022
geneviewrs397516022
scholarrs397516022
googlers397516022
pharmgkbrs397516022
gwascentralrs397516022
openSNPrs397516022
23andMers397516022
23andMe allrs397516022
SNP Nexus

SNPshotrs397516022
SNPdbers397516022
MSV3drs397516022
GWAS Ctlgrs397516022
Max Magnitude0
ClinVar
Risk rs397516022(G;G) rs397516022(T;T)
Alt rs397516022(G;G) rs397516022(T;T)
Reference Rs397516022(A;A)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354255T>A; NC_000011.9:g.47354255T>C
CLNSRC ClinVar
CLNACC RCV000211825.1, RCV000168818.1,