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rs587783834

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783834(A;A)
Make rs587783834(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641289
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783834
ebirs587783834
HLIrs587783834
Exacrs587783834
Varsomers587783834
Maprs587783834
PheGenIrs587783834
hapmaprs587783834
1000 genomesrs587783834
hgdprs587783834
ensemblrs587783834
gopubmedrs587783834
geneviewrs587783834
scholarrs587783834
googlers587783834
pharmgkbrs587783834
gwascentralrs587783834
openSNPrs587783834
23andMers587783834
23andMe allrs587783834
SNP Nexus

SNPshotrs587783834
SNPdbers587783834
MSV3drs587783834
GWAS Ctlgrs587783834
Max Magnitude0
ClinVar
Risk rs587783834(A;A)
Alt rs587783834(A;A)
Reference rs587783834(G;G)
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.149809762G>A
CLNSRC
CLNACC RCV000146459.1,