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rs587783793

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783793(G;T)
Make rs587783793(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150660444
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783793
ebirs587783793
HLIrs587783793
Exacrs587783793
Varsomers587783793
Maprs587783793
PheGenIrs587783793
hapmaprs587783793
1000 genomesrs587783793
hgdprs587783793
ensemblrs587783793
gopubmedrs587783793
geneviewrs587783793
scholarrs587783793
googlers587783793
pharmgkbrs587783793
gwascentralrs587783793
openSNPrs587783793
23andMers587783793
23andMe allrs587783793
SNP Nexus

SNPshotrs587783793
SNPdbers587783793
MSV3drs587783793
GWAS Ctlgrs587783793
Max Magnitude0
ClinVar
Risk rs587783793(T;T)
Alt rs587783793(T;T)
Reference rs587783793(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.149828917G>T
CLNSRC
CLNACC RCV000146415.1,