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rs587783844

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783844(A;T)
Make rs587783844(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150592680
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783844
ebirs587783844
HLIrs587783844
Exacrs587783844
Varsomers587783844
Maprs587783844
PheGenIrs587783844
hapmaprs587783844
1000 genomesrs587783844
hgdprs587783844
ensemblrs587783844
gopubmedrs587783844
geneviewrs587783844
scholarrs587783844
googlers587783844
pharmgkbrs587783844
gwascentralrs587783844
openSNPrs587783844
23andMers587783844
23andMe allrs587783844
SNP Nexus

SNPshotrs587783844
SNPdbers587783844
MSV3drs587783844
GWAS Ctlgrs587783844
Max Magnitude0
ClinVar
Risk rs587783844(T;T)
Alt rs587783844(T;T)
Reference rs587783844(A;A)
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.149761142A>T
CLNSRC
CLNACC RCV000146469.1,