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rs397516132

From SNPedia

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


Make rs397516132(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position23426021
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516132
dbSNP (classic)rs397516132
ClinGenrs397516132
ebirs397516132
HLIrs397516132
Exacrs397516132
Gnomadrs397516132
Varsomers397516132
LitVarrs397516132
Maprs397516132
PheGenIrs397516132
Biobankrs397516132
1000 genomesrs397516132
hgdprs397516132
ensemblrs397516132
geneviewrs397516132
scholarrs397516132
googlers397516132
pharmgkbrs397516132
gwascentralrs397516132
openSNPrs397516132
23andMers397516132
SNPshotrs397516132
SNPdbers397516132
MSV3drs397516132
GWAS Ctlgrs397516132
Max Magnitude6.2
ClinVar
Risk rs397516132(A;A)
Alt rs397516132(A;A)
Reference Rs397516132(T;T)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene MYH7
CLNDBN Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000014.8:g.23895230A>T
CLNSRC ClinVar
CLNACC RCV000035763.2, RCV000158508.1,