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rs587783851

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783851(C;C)
Make rs587783851(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150645687
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783851
ClinGenrs587783851
ebirs587783851
HLIrs587783851
Exacrs587783851
Varsomers587783851
Maprs587783851
PheGenIrs587783851
hapmaprs587783851
1000 genomesrs587783851
hgdprs587783851
ensemblrs587783851
gopubmedrs587783851
geneviewrs587783851
scholarrs587783851
googlers587783851
pharmgkbrs587783851
gwascentralrs587783851
openSNPrs587783851
23andMers587783851
23andMe allrs587783851
SNP Nexus

SNPshotrs587783851
SNPdbers587783851
MSV3drs587783851
GWAS Ctlgrs587783851
Max Magnitude0
ClinVar
Risk rs587783851(C;C)
Alt rs587783851(C;C)
Reference Rs587783851(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.149814160T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000146477.1,