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rs587783752

From SNPedia

Orientationplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs587783752(-;-)
Make rs587783752(-;AA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150657855
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783752
ebirs587783752
HLIrs587783752
Exacrs587783752
Varsomers587783752
Maprs587783752
PheGenIrs587783752
hapmaprs587783752
1000 genomesrs587783752
hgdprs587783752
ensemblrs587783752
gopubmedrs587783752
geneviewrs587783752
scholarrs587783752
googlers587783752
pharmgkbrs587783752
gwascentralrs587783752
openSNPrs587783752
23andMers587783752
23andMe allrs587783752
SNP Nexus

SNPshotrs587783752
SNPdbers587783752
MSV3drs587783752
GWAS Ctlgrs587783752
Max Magnitude0
ClinVar
Risk rs587783752(;)
Alt rs587783752(;)
Reference rs587783752(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.149826328_149826329delAA
CLNSRC
CLNACC RCV000146373.1,