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rs587783794

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783794(C;C)
Make rs587783794(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150660450
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783794
ebirs587783794
HLIrs587783794
Exacrs587783794
Varsomers587783794
Maprs587783794
PheGenIrs587783794
hapmaprs587783794
1000 genomesrs587783794
hgdprs587783794
ensemblrs587783794
gopubmedrs587783794
geneviewrs587783794
scholarrs587783794
googlers587783794
pharmgkbrs587783794
gwascentralrs587783794
openSNPrs587783794
23andMers587783794
23andMe allrs587783794
SNP Nexus

SNPshotrs587783794
SNPdbers587783794
MSV3drs587783794
GWAS Ctlgrs587783794
Max Magnitude0
ClinVar
Risk rs587783794(C;C)
Alt rs587783794(C;C)
Reference rs587783794(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.149828923T>C
CLNSRC
CLNACC RCV000146416.1,