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rs587783775

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783775(-;-)
Make rs587783775(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150659710
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783775
ebirs587783775
HLIrs587783775
Exacrs587783775
Varsomers587783775
Maprs587783775
PheGenIrs587783775
hapmaprs587783775
1000 genomesrs587783775
hgdprs587783775
ensemblrs587783775
gopubmedrs587783775
geneviewrs587783775
scholarrs587783775
googlers587783775
pharmgkbrs587783775
gwascentralrs587783775
openSNPrs587783775
23andMers587783775
23andMe allrs587783775
SNP Nexus

SNPshotrs587783775
SNPdbers587783775
MSV3drs587783775
GWAS Ctlgrs587783775
Max Magnitude0
ClinVar
Risk rs587783775(;)
Alt rs587783775(;)
Reference rs587783775(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.149828183delC
CLNSRC
CLNACC RCV000146396.1,