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rs587779393

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779393(C;C)
Make rs587779393(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23416020
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs587779393
dbSNP (classic)rs587779393
ClinGenrs587779393
ebirs587779393
HLIrs587779393
Exacrs587779393
Gnomadrs587779393
Varsomers587779393
LitVarrs587779393
Maprs587779393
PheGenIrs587779393
Biobankrs587779393
1000 genomesrs587779393
hgdprs587779393
ensemblrs587779393
geneviewrs587779393
scholarrs587779393
googlers587779393
pharmgkbrs587779393
gwascentralrs587779393
openSNPrs587779393
23andMers587779393
SNPshotrs587779393
SNPdbers587779393
MSV3drs587779393
GWAS Ctlgrs587779393
Max Magnitude0
ClinVar
Risk rs587779393(C;C)
Alt rs587779393(C;C)
Reference Rs587779393(T;T)
Significance Pathogenic
Disease Myopathy
Variation info
Gene MYH7 MHRT
CLNDBN Myopathy, distal, 1
Reversed 1
HGVS NC_000014.8:g.23885229A>G
CLNSRC
CLNACC RCV000132754.2,