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rs587783779

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783779(A;A)
Make rs587783779(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150659757
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783779
ebirs587783779
HLIrs587783779
Exacrs587783779
Varsomers587783779
Maprs587783779
PheGenIrs587783779
hapmaprs587783779
1000 genomesrs587783779
hgdprs587783779
ensemblrs587783779
gopubmedrs587783779
geneviewrs587783779
scholarrs587783779
googlers587783779
pharmgkbrs587783779
gwascentralrs587783779
openSNPrs587783779
23andMers587783779
23andMe allrs587783779
SNP Nexus

SNPshotrs587783779
SNPdbers587783779
MSV3drs587783779
GWAS Ctlgrs587783779
Max Magnitude0
ClinVar
Risk rs587783779(A;A)
Alt rs587783779(A;A)
Reference rs587783779(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.149828230G>A
CLNSRC
CLNACC RCV000146400.1,