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

rs587783863

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783863(C;C)
Make rs587783863(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150649806
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783863
ebirs587783863
HLIrs587783863
Exacrs587783863
Varsomers587783863
Maprs587783863
PheGenIrs587783863
hapmaprs587783863
1000 genomesrs587783863
hgdprs587783863
ensemblrs587783863
gopubmedrs587783863
geneviewrs587783863
scholarrs587783863
googlers587783863
pharmgkbrs587783863
gwascentralrs587783863
openSNPrs587783863
23andMers587783863
23andMe allrs587783863
SNP Nexus

SNPshotrs587783863
SNPdbers587783863
MSV3drs587783863
GWAS Ctlgrs587783863
Max Magnitude0
ClinVar
Risk rs587783863(C;C)
Alt rs587783863(C;C)
Reference rs587783863(T;T)
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.149818279T>C
CLNSRC
CLNACC RCV000146490.1,