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rs587783826

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783826(-;-)
Make rs587783826(-;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150619126
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783826
ebirs587783826
HLIrs587783826
Exacrs587783826
Varsomers587783826
Maprs587783826
PheGenIrs587783826
hapmaprs587783826
1000 genomesrs587783826
hgdprs587783826
ensemblrs587783826
gopubmedrs587783826
geneviewrs587783826
scholarrs587783826
googlers587783826
pharmgkbrs587783826
gwascentralrs587783826
openSNPrs587783826
23andMers587783826
23andMe allrs587783826
SNP Nexus

SNPshotrs587783826
SNPdbers587783826
MSV3drs587783826
GWAS Ctlgrs587783826
Max Magnitude0
ClinVar
Risk rs587783826(;)
Alt rs587783826(;)
Reference rs587783826(T;T)
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.149787599delT
CLNSRC
CLNACC RCV000146451.1,