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rs587783847

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783847(C;T)
Make rs587783847(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641404
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783847
ebirs587783847
HLIrs587783847
Exacrs587783847
Varsomers587783847
Maprs587783847
PheGenIrs587783847
hapmaprs587783847
1000 genomesrs587783847
hgdprs587783847
ensemblrs587783847
gopubmedrs587783847
geneviewrs587783847
scholarrs587783847
googlers587783847
pharmgkbrs587783847
gwascentralrs587783847
openSNPrs587783847
23andMers587783847
23andMe allrs587783847
SNP Nexus

SNPshotrs587783847
SNPdbers587783847
MSV3drs587783847
GWAS Ctlgrs587783847
Max Magnitude0
ClinVar
Risk rs587783847(T;T)
Alt rs587783847(T;T)
Reference rs587783847(C;C)
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.149809877C>T
CLNSRC
CLNACC RCV000146473.1,