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rs587783840

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783840(G;G)
Make rs587783840(G;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641351
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783840
ebirs587783840
HLIrs587783840
Exacrs587783840
Varsomers587783840
Maprs587783840
PheGenIrs587783840
hapmaprs587783840
1000 genomesrs587783840
hgdprs587783840
ensemblrs587783840
gopubmedrs587783840
geneviewrs587783840
scholarrs587783840
googlers587783840
pharmgkbrs587783840
gwascentralrs587783840
openSNPrs587783840
23andMers587783840
23andMe allrs587783840
SNP Nexus

SNPshotrs587783840
SNPdbers587783840
MSV3drs587783840
GWAS Ctlgrs587783840
Max Magnitude0
ClinVar
Risk rs587783840(G;G)
Alt rs587783840(G;G)
Reference rs587783840(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.149809824T>G
CLNSRC
CLNACC RCV000146465.1,