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rs587783799

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783799(A;A)
Make rs587783799(A;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150660486
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783799
ebirs587783799
HLIrs587783799
Exacrs587783799
Varsomers587783799
Maprs587783799
PheGenIrs587783799
hapmaprs587783799
1000 genomesrs587783799
hgdprs587783799
ensemblrs587783799
gopubmedrs587783799
geneviewrs587783799
scholarrs587783799
googlers587783799
pharmgkbrs587783799
gwascentralrs587783799
openSNPrs587783799
23andMers587783799
23andMe allrs587783799
SNP Nexus

SNPshotrs587783799
SNPdbers587783799
MSV3drs587783799
GWAS Ctlgrs587783799
Max Magnitude0
ClinVar
Risk rs587783799(A;A)
Alt rs587783799(A;A)
Reference rs587783799(T;T)
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.149828959T>A
CLNSRC
CLNACC RCV000146423.1,