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rs397516113

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397516113(A;G)
Make rs397516113(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23427876
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516113
dbSNP (classic)rs397516113
ClinGenrs397516113
ebirs397516113
HLIrs397516113
Exacrs397516113
Gnomadrs397516113
Varsomers397516113
LitVarrs397516113
Maprs397516113
PheGenIrs397516113
Biobankrs397516113
1000 genomesrs397516113
hgdprs397516113
ensemblrs397516113
geneviewrs397516113
scholarrs397516113
googlers397516113
pharmgkbrs397516113
gwascentralrs397516113
openSNPrs397516113
23andMers397516113
SNPshotrs397516113
SNPdbers397516113
MSV3drs397516113
GWAS Ctlgrs397516113
Max Magnitude0
ClinVar
Risk rs397516113(G;G)
Alt rs397516113(G;G)
Reference Rs397516113(A;A)
Significance Probable-Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN not specified Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23897085T>C
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000035732.3, RCV000168857.2,