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rs587783854

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783854(C;T)
Make rs587783854(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150645761
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783854
ebirs587783854
HLIrs587783854
Exacrs587783854
Varsomers587783854
Maprs587783854
PheGenIrs587783854
hapmaprs587783854
1000 genomesrs587783854
hgdprs587783854
ensemblrs587783854
gopubmedrs587783854
geneviewrs587783854
scholarrs587783854
googlers587783854
pharmgkbrs587783854
gwascentralrs587783854
openSNPrs587783854
23andMers587783854
23andMe allrs587783854
SNP Nexus

SNPshotrs587783854
SNPdbers587783854
MSV3drs587783854
GWAS Ctlgrs587783854
Max Magnitude0
ClinVar
Risk rs587783854(T;T)
Alt rs587783854(T;T)
Reference rs587783854(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.149814234C>T
CLNSRC
CLNACC RCV000146481.1,