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rs587783759

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783759(A;A)
Make rs587783759(A;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150657927
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783759
ebirs587783759
HLIrs587783759
Exacrs587783759
Varsomers587783759
Maprs587783759
PheGenIrs587783759
hapmaprs587783759
1000 genomesrs587783759
hgdprs587783759
ensemblrs587783759
gopubmedrs587783759
geneviewrs587783759
scholarrs587783759
googlers587783759
pharmgkbrs587783759
gwascentralrs587783759
openSNPrs587783759
23andMers587783759
23andMe allrs587783759
SNP Nexus

SNPshotrs587783759
SNPdbers587783759
MSV3drs587783759
GWAS Ctlgrs587783759
Max Magnitude0
ClinVar
Risk rs587783759(A;A)
Alt rs587783759(A;A)
Reference rs587783759(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.149826400C>A
CLNSRC
CLNACC RCV000146380.1,