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rs587783864

From SNPedia

Orientationplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs587783864(-;-)
Make rs587783864(-;TT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150649809
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783864
ebirs587783864
HLIrs587783864
Exacrs587783864
Varsomers587783864
Maprs587783864
PheGenIrs587783864
hapmaprs587783864
1000 genomesrs587783864
hgdprs587783864
ensemblrs587783864
gopubmedrs587783864
geneviewrs587783864
scholarrs587783864
googlers587783864
pharmgkbrs587783864
gwascentralrs587783864
openSNPrs587783864
23andMers587783864
23andMe allrs587783864
SNP Nexus

SNPshotrs587783864
SNPdbers587783864
MSV3drs587783864
GWAS Ctlgrs587783864
Max Magnitude0
ClinVar
Risk rs587783864(;)
Alt rs587783864(;)
Reference rs587783864(TT;TT)
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.149818282_149818283delTT
CLNSRC
CLNACC RCV000146491.1,