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rs587783857

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783857(C;T)
Make rs587783857(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150596519
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783857
ebirs587783857
HLIrs587783857
Exacrs587783857
Varsomers587783857
Maprs587783857
PheGenIrs587783857
hapmaprs587783857
1000 genomesrs587783857
hgdprs587783857
ensemblrs587783857
gopubmedrs587783857
geneviewrs587783857
scholarrs587783857
googlers587783857
pharmgkbrs587783857
gwascentralrs587783857
openSNPrs587783857
23andMers587783857
23andMe allrs587783857
SNP Nexus

SNPshotrs587783857
SNPdbers587783857
MSV3drs587783857
GWAS Ctlgrs587783857
Max Magnitude0
ClinVar
Risk rs587783857(T;T)
Alt rs587783857(T;T)
Reference rs587783857(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.149764983C>T
CLNSRC
CLNACC RCV000146484.1,