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rs587779392

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779392(C;C)
Make rs587779392(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23416122
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs587779392
dbSNP (classic)rs587779392
ClinGenrs587779392
ebirs587779392
HLIrs587779392
Exacrs587779392
Gnomadrs587779392
Varsomers587779392
LitVarrs587779392
Maprs587779392
PheGenIrs587779392
Biobankrs587779392
1000 genomesrs587779392
hgdprs587779392
ensemblrs587779392
geneviewrs587779392
scholarrs587779392
googlers587779392
pharmgkbrs587779392
gwascentralrs587779392
openSNPrs587779392
23andMers587779392
SNPshotrs587779392
SNPdbers587779392
MSV3drs587779392
GWAS Ctlgrs587779392
Max Magnitude0
ClinVar
Risk rs587779392(C;C)
Alt rs587779392(C;C)
Reference Rs587779392(T;T)
Significance Pathogenic
Disease Myopathy Hypertrophic cardiomyopathy
Variation info
Gene MYH7 MHRT
CLNDBN Myopathy, distal, 1 Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23885331A>G
CLNSRC
CLNACC RCV000132752.2, RCV000459843.1,