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rs587783787

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783787(C;C)
Make rs587783787(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150660405
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783787
ebirs587783787
HLIrs587783787
Exacrs587783787
Varsomers587783787
Maprs587783787
PheGenIrs587783787
hapmaprs587783787
1000 genomesrs587783787
hgdprs587783787
ensemblrs587783787
gopubmedrs587783787
geneviewrs587783787
scholarrs587783787
googlers587783787
pharmgkbrs587783787
gwascentralrs587783787
openSNPrs587783787
23andMers587783787
23andMe allrs587783787
SNP Nexus

SNPshotrs587783787
SNPdbers587783787
MSV3drs587783787
GWAS Ctlgrs587783787
Max Magnitude0
ClinVar
Risk rs587783787(C,G;C,G)
Alt rs587783787(C,G;C,G)
Reference rs587783787(T;T)
Significance Probable-Pathogenic
Disease Severe X-linked myotubular myopathy
Variation info
Gene MTM1
CLNDBN Severe X-linked myotubular myopathy
Reversed 0
HGVS NC_000023.10:g.149828878T>C; NC_000023.10:g.149828878T>G
CLNSRC
CLNACC RCV000146408.1, RCV000146409.1,