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rs397516127

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516127(C;T)
Make rs397516127(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23426834
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516127
dbSNP (classic)rs397516127
ClinGenrs397516127
ebirs397516127
HLIrs397516127
Exacrs397516127
Gnomadrs397516127
Varsomers397516127
LitVarrs397516127
Maprs397516127
PheGenIrs397516127
Biobankrs397516127
1000 genomesrs397516127
hgdprs397516127
ensemblrs397516127
geneviewrs397516127
scholarrs397516127
googlers397516127
pharmgkbrs397516127
gwascentralrs397516127
openSNPrs397516127
23andMers397516127
SNPshotrs397516127
SNPdbers397516127
MSV3drs397516127
GWAS Ctlgrs397516127
Max Magnitude0
ClinVar
Risk rs397516127(T;T)
Alt rs397516127(T;T)
Reference Rs397516127(C;C)
Significance Other
Disease Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23896043G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000157358.4, RCV000158821.3, RCV000459608.1,