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rs587783822

From SNPedia

Orientationplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs587783822(-;-)
Make rs587783822(-;AT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150619092
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783822
ebirs587783822
HLIrs587783822
Exacrs587783822
Varsomers587783822
Maprs587783822
PheGenIrs587783822
hapmaprs587783822
1000 genomesrs587783822
hgdprs587783822
ensemblrs587783822
gopubmedrs587783822
geneviewrs587783822
scholarrs587783822
googlers587783822
pharmgkbrs587783822
gwascentralrs587783822
openSNPrs587783822
23andMers587783822
23andMe allrs587783822
SNP Nexus

SNPshotrs587783822
SNPdbers587783822
MSV3drs587783822
GWAS Ctlgrs587783822
Max Magnitude0
ClinVar
Risk rs587783822(;)
Alt rs587783822(;)
Reference rs587783822(AT;AT)
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.149787565_149787566delAT
CLNSRC
CLNACC RCV000146447.1,