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rs587783858

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783858(A;A)
Make rs587783858(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150645872
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783858
ebirs587783858
HLIrs587783858
Exacrs587783858
Varsomers587783858
Maprs587783858
PheGenIrs587783858
hapmaprs587783858
1000 genomesrs587783858
hgdprs587783858
ensemblrs587783858
gopubmedrs587783858
geneviewrs587783858
scholarrs587783858
googlers587783858
pharmgkbrs587783858
gwascentralrs587783858
openSNPrs587783858
23andMers587783858
23andMe allrs587783858
SNP Nexus

SNPshotrs587783858
SNPdbers587783858
MSV3drs587783858
GWAS Ctlgrs587783858
Max Magnitude0
ClinVar
Risk rs587783858(A;A)
Alt rs587783858(A;A)
Reference rs587783858(G;G)
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.149814345G>A
CLNSRC
CLNACC RCV000146485.1,