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rs587783859

From SNPedia

Orientationplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs587783859(-;-)
Make rs587783859(-;AA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150649736
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783859
ebirs587783859
HLIrs587783859
Exacrs587783859
Varsomers587783859
Maprs587783859
PheGenIrs587783859
hapmaprs587783859
1000 genomesrs587783859
hgdprs587783859
ensemblrs587783859
gopubmedrs587783859
geneviewrs587783859
scholarrs587783859
googlers587783859
pharmgkbrs587783859
gwascentralrs587783859
openSNPrs587783859
23andMers587783859
23andMe allrs587783859
SNP Nexus

SNPshotrs587783859
SNPdbers587783859
MSV3drs587783859
GWAS Ctlgrs587783859
Max Magnitude0
ClinVar
Risk rs587783859(;)
Alt rs587783859(;)
Reference rs587783859(AA;AA)
Significance Pathogenic
Disease Severe X-linked myotubular myopathy
Variation info
Gene MTM1
CLNDBN Severe X-linked myotubular myopathy
Reversed 0
HGVS NC_000023.10:g.149818209_149818210delAA
CLNSRC
CLNACC RCV000146486.1,