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

rs587783766

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783766(A;A)
Make rs587783766(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150658011
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783766
ebirs587783766
HLIrs587783766
Exacrs587783766
Varsomers587783766
Maprs587783766
PheGenIrs587783766
hapmaprs587783766
1000 genomesrs587783766
hgdprs587783766
ensemblrs587783766
gopubmedrs587783766
geneviewrs587783766
scholarrs587783766
googlers587783766
pharmgkbrs587783766
gwascentralrs587783766
openSNPrs587783766
23andMers587783766
23andMe allrs587783766
SNP Nexus

SNPshotrs587783766
SNPdbers587783766
MSV3drs587783766
GWAS Ctlgrs587783766
Max Magnitude0
ClinVar
Risk rs587783766(A;A)
Alt rs587783766(A;A)
Reference rs587783766(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.149826484G>A
CLNSRC
CLNACC RCV000146387.1,