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rs587783841

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783841(C;T)
Make rs587783841(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641354
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783841
ebirs587783841
HLIrs587783841
Exacrs587783841
Varsomers587783841
Maprs587783841
PheGenIrs587783841
hapmaprs587783841
1000 genomesrs587783841
hgdprs587783841
ensemblrs587783841
gopubmedrs587783841
geneviewrs587783841
scholarrs587783841
googlers587783841
pharmgkbrs587783841
gwascentralrs587783841
openSNPrs587783841
23andMers587783841
23andMe allrs587783841
SNP Nexus

SNPshotrs587783841
SNPdbers587783841
MSV3drs587783841
GWAS Ctlgrs587783841
Max Magnitude0
ClinVar
Risk rs587783841(T;T)
Alt rs587783841(T;T)
Reference rs587783841(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.149809827C>T
CLNSRC
CLNACC RCV000146466.1,