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rs587783757

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783757(A;A)
Make rs587783757(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150657904
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783757
ebirs587783757
HLIrs587783757
Exacrs587783757
Varsomers587783757
Maprs587783757
PheGenIrs587783757
hapmaprs587783757
1000 genomesrs587783757
hgdprs587783757
ensemblrs587783757
gopubmedrs587783757
geneviewrs587783757
scholarrs587783757
googlers587783757
pharmgkbrs587783757
gwascentralrs587783757
openSNPrs587783757
23andMers587783757
23andMe allrs587783757
SNP Nexus

SNPshotrs587783757
SNPdbers587783757
MSV3drs587783757
GWAS Ctlgrs587783757
Max Magnitude0
ClinVar
Risk rs587783757(A;A)
Alt rs587783757(A;A)
Reference rs587783757(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.149826377G>A
CLNSRC
CLNACC RCV000146378.1,