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rs397516121

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 6.2 Familial Hypertrophic Cardiomyopathy
(T;T) 0 common in clinvar


Make rs397516121(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position23427716
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516121
dbSNP (classic)rs397516121
ClinGenrs397516121
ebirs397516121
HLIrs397516121
Exacrs397516121
Gnomadrs397516121
Varsomers397516121
LitVarrs397516121
Maprs397516121
PheGenIrs397516121
Biobankrs397516121
1000 genomesrs397516121
hgdprs397516121
ensemblrs397516121
geneviewrs397516121
scholarrs397516121
googlers397516121
pharmgkbrs397516121
gwascentralrs397516121
openSNPrs397516121
23andMers397516121
SNPshotrs397516121
SNPdbers397516121
MSV3drs397516121
GWAS Ctlgrs397516121
Max Magnitude6.2
ClinVar
Risk rs397516121(C;C)
Alt rs397516121(C;C)
Reference Rs397516121(T;T)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23896925A>G
CLNSRC ClinVar
CLNACC RCV000035747.2,