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rs587783783

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783783(C;C)
Make rs587783783(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150660384
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783783
ebirs587783783
HLIrs587783783
Exacrs587783783
Varsomers587783783
Maprs587783783
PheGenIrs587783783
hapmaprs587783783
1000 genomesrs587783783
hgdprs587783783
ensemblrs587783783
gopubmedrs587783783
geneviewrs587783783
scholarrs587783783
googlers587783783
pharmgkbrs587783783
gwascentralrs587783783
openSNPrs587783783
23andMers587783783
23andMe allrs587783783
SNP Nexus

SNPshotrs587783783
SNPdbers587783783
MSV3drs587783783
GWAS Ctlgrs587783783
Max Magnitude0
ClinVar
Risk rs587783783(C;C)
Alt rs587783783(C;C)
Reference rs587783783(T;T)
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.149828857T>C
CLNSRC
CLNACC RCV000146404.1,