Have questions? Visit https://www.reddit.com/r/SNPedia

rs587783850

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783850(A;A)
Make rs587783850(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150645683
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783850
ebirs587783850
HLIrs587783850
Exacrs587783850
Varsomers587783850
Maprs587783850
PheGenIrs587783850
hapmaprs587783850
1000 genomesrs587783850
hgdprs587783850
ensemblrs587783850
gopubmedrs587783850
geneviewrs587783850
scholarrs587783850
googlers587783850
pharmgkbrs587783850
gwascentralrs587783850
openSNPrs587783850
23andMers587783850
23andMe allrs587783850
SNP Nexus

SNPshotrs587783850
SNPdbers587783850
MSV3drs587783850
GWAS Ctlgrs587783850
Max Magnitude0
ClinVar
Risk rs587783850(A;A)
Alt rs587783850(A;A)
Reference rs587783850(G;G)
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.149814156G>A
CLNSRC
CLNACC RCV000146476.1,