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rs587783750

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783750(C;C)
Make rs587783750(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150649884
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783750
ebirs587783750
HLIrs587783750
Exacrs587783750
Varsomers587783750
Maprs587783750
PheGenIrs587783750
hapmaprs587783750
1000 genomesrs587783750
hgdprs587783750
ensemblrs587783750
gopubmedrs587783750
geneviewrs587783750
scholarrs587783750
googlers587783750
pharmgkbrs587783750
gwascentralrs587783750
openSNPrs587783750
23andMers587783750
23andMe allrs587783750
SNP Nexus

SNPshotrs587783750
SNPdbers587783750
MSV3drs587783750
GWAS Ctlgrs587783750
Max Magnitude0
ClinVar
Risk rs587783750(C;C)
Alt rs587783750(C;C)
Reference rs587783750(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.149818357T>C
CLNSRC
CLNACC RCV000146371.1,