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rs397516272

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516272(C;T)
Make rs397516272(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23430924
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516272
dbSNP (classic)rs397516272
ClinGenrs397516272
ebirs397516272
HLIrs397516272
Exacrs397516272
Gnomadrs397516272
Varsomers397516272
LitVarrs397516272
Maprs397516272
PheGenIrs397516272
Biobankrs397516272
1000 genomesrs397516272
hgdprs397516272
ensemblrs397516272
geneviewrs397516272
scholarrs397516272
googlers397516272
pharmgkbrs397516272
gwascentralrs397516272
openSNPrs397516272
23andMers397516272
SNPshotrs397516272
SNPdbers397516272
MSV3drs397516272
GWAS Ctlgrs397516272
Max Magnitude0
ClinVar
Risk rs397516272(T;T)
Alt rs397516272(T;T)
Reference Rs397516272(C;C)
Significance Probable-Pathogenic
Disease not specified Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYH7
CLNDBN not specified Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000014.8:g.23900133G>A
CLNSRC ClinVar
CLNACC RCV000036008.3, RCV000201478.1,