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rs587783753

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783753(C;T)
Make rs587783753(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150596543
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783753
ebirs587783753
HLIrs587783753
Exacrs587783753
Varsomers587783753
Maprs587783753
PheGenIrs587783753
hapmaprs587783753
1000 genomesrs587783753
hgdprs587783753
ensemblrs587783753
gopubmedrs587783753
geneviewrs587783753
scholarrs587783753
googlers587783753
pharmgkbrs587783753
gwascentralrs587783753
openSNPrs587783753
23andMers587783753
23andMe allrs587783753
SNP Nexus

SNPshotrs587783753
SNPdbers587783753
MSV3drs587783753
GWAS Ctlgrs587783753
Max Magnitude0
ClinVar
Risk rs587783753(T;T)
Alt rs587783753(T;T)
Reference rs587783753(C;C)
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.149765007C>T
CLNSRC
CLNACC RCV000146374.1,