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rs587783792

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783792(C;T)
Make rs587783792(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150660437
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783792
ebirs587783792
HLIrs587783792
Exacrs587783792
Varsomers587783792
Maprs587783792
PheGenIrs587783792
hapmaprs587783792
1000 genomesrs587783792
hgdprs587783792
ensemblrs587783792
gopubmedrs587783792
geneviewrs587783792
scholarrs587783792
googlers587783792
pharmgkbrs587783792
gwascentralrs587783792
openSNPrs587783792
23andMers587783792
23andMe allrs587783792
SNP Nexus

SNPshotrs587783792
SNPdbers587783792
MSV3drs587783792
GWAS Ctlgrs587783792
Max Magnitude0
ClinVar
Risk rs587783792(T;T)
Alt rs587783792(T;T)
Reference rs587783792(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.149828910C>T
CLNSRC
CLNACC RCV000146414.1,