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rs587783860

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783860(-;-)
Make rs587783860(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150649760
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783860
ebirs587783860
HLIrs587783860
Exacrs587783860
Varsomers587783860
Maprs587783860
PheGenIrs587783860
hapmaprs587783860
1000 genomesrs587783860
hgdprs587783860
ensemblrs587783860
gopubmedrs587783860
geneviewrs587783860
scholarrs587783860
googlers587783860
pharmgkbrs587783860
gwascentralrs587783860
openSNPrs587783860
23andMers587783860
23andMe allrs587783860
SNP Nexus

SNPshotrs587783860
SNPdbers587783860
MSV3drs587783860
GWAS Ctlgrs587783860
Max Magnitude0
ClinVar
Risk rs587783860(;)
Alt rs587783860(;)
Reference rs587783860(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.149818233delC
CLNSRC
CLNACC RCV000146487.1,