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rs587783808

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783808(-;-)
Make rs587783808(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150671575
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783808
ebirs587783808
HLIrs587783808
Exacrs587783808
Varsomers587783808
Maprs587783808
PheGenIrs587783808
hapmaprs587783808
1000 genomesrs587783808
hgdprs587783808
ensemblrs587783808
gopubmedrs587783808
geneviewrs587783808
scholarrs587783808
googlers587783808
pharmgkbrs587783808
gwascentralrs587783808
openSNPrs587783808
23andMers587783808
23andMe allrs587783808
SNP Nexus

SNPshotrs587783808
SNPdbers587783808
MSV3drs587783808
GWAS Ctlgrs587783808
Max Magnitude0
ClinVar
Risk rs587783808(;)
Alt rs587783808(;)
Reference rs587783808(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.149840048delC
CLNSRC
CLNACC RCV000146432.1,