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

rs587783802

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783802(-;-)
Make rs587783802(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150663474
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783802
ebirs587783802
HLIrs587783802
Exacrs587783802
Varsomers587783802
Maprs587783802
PheGenIrs587783802
hapmaprs587783802
1000 genomesrs587783802
hgdprs587783802
ensemblrs587783802
gopubmedrs587783802
geneviewrs587783802
scholarrs587783802
googlers587783802
pharmgkbrs587783802
gwascentralrs587783802
openSNPrs587783802
23andMers587783802
23andMe allrs587783802
SNP Nexus

SNPshotrs587783802
SNPdbers587783802
MSV3drs587783802
GWAS Ctlgrs587783802
Max Magnitude0
ClinVar
Risk rs587783802(;)
Alt rs587783802(;)
Reference rs587783802(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.149831947delC
CLNSRC
CLNACC RCV000146426.1,