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rs587783853

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783853(G;T)
Make rs587783853(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150645747
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783853
ebirs587783853
HLIrs587783853
Exacrs587783853
Varsomers587783853
Maprs587783853
PheGenIrs587783853
hapmaprs587783853
1000 genomesrs587783853
hgdprs587783853
ensemblrs587783853
gopubmedrs587783853
geneviewrs587783853
scholarrs587783853
googlers587783853
pharmgkbrs587783853
gwascentralrs587783853
openSNPrs587783853
23andMers587783853
23andMe allrs587783853
SNP Nexus

SNPshotrs587783853
SNPdbers587783853
MSV3drs587783853
GWAS Ctlgrs587783853
Max Magnitude0
ClinVar
Risk rs587783853(T;T)
Alt rs587783853(T;T)
Reference rs587783853(G;G)
Significance Probable-Pathogenic
Disease Severe X-linked myotubular myopathy
Variation info
Gene MTM1
CLNDBN Severe X-linked myotubular myopathy
Reversed 0
HGVS NC_000023.10:g.149814220G>T
CLNSRC
CLNACC RCV000146480.1,