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rs587783845

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783845(C;T)
Make rs587783845(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641377
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783845
ebirs587783845
HLIrs587783845
Exacrs587783845
Varsomers587783845
Maprs587783845
PheGenIrs587783845
hapmaprs587783845
1000 genomesrs587783845
hgdprs587783845
ensemblrs587783845
gopubmedrs587783845
geneviewrs587783845
scholarrs587783845
googlers587783845
pharmgkbrs587783845
gwascentralrs587783845
openSNPrs587783845
23andMers587783845
23andMe allrs587783845
SNP Nexus

SNPshotrs587783845
SNPdbers587783845
MSV3drs587783845
GWAS Ctlgrs587783845
Max Magnitude0
ClinVar
Risk rs587783845(T;T)
Alt rs587783845(T;T)
Reference rs587783845(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.149809850C>T
CLNSRC
CLNACC RCV000146470.1,