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rs587779394

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAG;GAG) 0 common in clinvar
Make rs587779394(-;-)
Make rs587779394(-;GAG)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23415779
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs587779394
dbSNP (classic)rs587779394
ClinGenrs587779394
ebirs587779394
HLIrs587779394
Exacrs587779394
Gnomadrs587779394
Varsomers587779394
LitVarrs587779394
Maprs587779394
PheGenIrs587779394
Biobankrs587779394
1000 genomesrs587779394
hgdprs587779394
ensemblrs587779394
geneviewrs587779394
scholarrs587779394
googlers587779394
pharmgkbrs587779394
gwascentralrs587779394
openSNPrs587779394
23andMers587779394
SNPshotrs587779394
SNPdbers587779394
MSV3drs587779394
GWAS Ctlgrs587779394
Max Magnitude0
ClinVar
Risk rs587779394(-;-)
Alt rs587779394(-;-)
Reference Rs587779394(GAG;GAG)
Significance Pathogenic
Disease Myopathy
Variation info
Gene MYH7 MHRT
CLNDBN Myopathy, distal, 1
Reversed 1
HGVS NC_000014.8:g.23884988_23884990delCTC
CLNSRC
CLNACC RCV000132756.2,