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rs397516155

From SNPedia

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


Make rs397516155(-;-)
ReferenceGRCh38 38.1/142
Chromosome14
Position23424907
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516155
dbSNP (classic)rs397516155
ClinGenrs397516155
ebirs397516155
HLIrs397516155
Exacrs397516155
Gnomadrs397516155
Varsomers397516155
LitVarrs397516155
Maprs397516155
PheGenIrs397516155
Biobankrs397516155
1000 genomesrs397516155
hgdprs397516155
ensemblrs397516155
geneviewrs397516155
scholarrs397516155
googlers397516155
pharmgkbrs397516155
gwascentralrs397516155
openSNPrs397516155
23andMers397516155
SNPshotrs397516155
SNPdbers397516155
MSV3drs397516155
GWAS Ctlgrs397516155
Max Magnitude6.2
ClinVar
Risk rs397516155(-;-)
Alt rs397516155(-;-)
Reference Rs397516155(AAG;AAG)
Significance Probable-Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 not provided Cardiovascular phenotype
Variation info
Gene MYH7
CLNDBN not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 not provided Cardiovascular phenotype
Reversed 1
HGVS NC_000014.8:g.23894116_23894118delCTT
CLNSRC ClinVar
CLNACC RCV000035802.2, RCV000143922.2, RCV000168354.1, RCV000201461.1, RCV000223913.1, RCV000248308.1,