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rs587783811

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783811(G;G)
Make rs587783811(G;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150598688
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783811
ebirs587783811
HLIrs587783811
Exacrs587783811
Varsomers587783811
Maprs587783811
PheGenIrs587783811
hapmaprs587783811
1000 genomesrs587783811
hgdprs587783811
ensemblrs587783811
gopubmedrs587783811
geneviewrs587783811
scholarrs587783811
googlers587783811
pharmgkbrs587783811
gwascentralrs587783811
openSNPrs587783811
23andMers587783811
23andMe allrs587783811
SNP Nexus

SNPshotrs587783811
SNPdbers587783811
MSV3drs587783811
GWAS Ctlgrs587783811
Max Magnitude0
ClinVar
Risk rs587783811(G;G)
Alt rs587783811(G;G)
Reference rs587783811(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.149767152T>G
CLNSRC
CLNACC RCV000146436.1,