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rs587783828

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783828(G;T)
Make rs587783828(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150639012
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783828
ebirs587783828
HLIrs587783828
Exacrs587783828
Varsomers587783828
Maprs587783828
PheGenIrs587783828
hapmaprs587783828
1000 genomesrs587783828
hgdprs587783828
ensemblrs587783828
gopubmedrs587783828
geneviewrs587783828
scholarrs587783828
googlers587783828
pharmgkbrs587783828
gwascentralrs587783828
openSNPrs587783828
23andMers587783828
23andMe allrs587783828
SNP Nexus

SNPshotrs587783828
SNPdbers587783828
MSV3drs587783828
GWAS Ctlgrs587783828
Max Magnitude0
ClinVar
Risk rs587783828(T;T)
Alt rs587783828(T;T)
Reference rs587783828(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.149807485G>T
CLNSRC
CLNACC RCV000146453.1,