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rs587783856

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783856(G;G)
Make rs587783856(G;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150645795
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783856
ebirs587783856
HLIrs587783856
Exacrs587783856
Varsomers587783856
Maprs587783856
PheGenIrs587783856
hapmaprs587783856
1000 genomesrs587783856
hgdprs587783856
ensemblrs587783856
gopubmedrs587783856
geneviewrs587783856
scholarrs587783856
googlers587783856
pharmgkbrs587783856
gwascentralrs587783856
openSNPrs587783856
23andMers587783856
23andMe allrs587783856
SNP Nexus

SNPshotrs587783856
SNPdbers587783856
MSV3drs587783856
GWAS Ctlgrs587783856
Max Magnitude0
ClinVar
Risk rs587783856(G;G)
Alt rs587783856(G;G)
Reference rs587783856(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.149814268T>G
CLNSRC
CLNACC RCV000146483.1,