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rs587783776

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783776(A;A)
Make rs587783776(A;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150659728
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783776
ebirs587783776
HLIrs587783776
Exacrs587783776
Varsomers587783776
Maprs587783776
PheGenIrs587783776
hapmaprs587783776
1000 genomesrs587783776
hgdprs587783776
ensemblrs587783776
gopubmedrs587783776
geneviewrs587783776
scholarrs587783776
googlers587783776
pharmgkbrs587783776
gwascentralrs587783776
openSNPrs587783776
23andMers587783776
23andMe allrs587783776
SNP Nexus

SNPshotrs587783776
SNPdbers587783776
MSV3drs587783776
GWAS Ctlgrs587783776
Max Magnitude0
ClinVar
Risk rs587783776(A;A)
Alt rs587783776(A;A)
Reference rs587783776(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.149828201T>A
CLNSRC
CLNACC RCV000146397.1,