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

rs587783755

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783755(A;A)
Make rs587783755(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150657899
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783755
ebirs587783755
HLIrs587783755
Exacrs587783755
Varsomers587783755
Maprs587783755
PheGenIrs587783755
hapmaprs587783755
1000 genomesrs587783755
hgdprs587783755
ensemblrs587783755
gopubmedrs587783755
geneviewrs587783755
scholarrs587783755
googlers587783755
pharmgkbrs587783755
gwascentralrs587783755
openSNPrs587783755
23andMers587783755
23andMe allrs587783755
SNP Nexus

SNPshotrs587783755
SNPdbers587783755
MSV3drs587783755
GWAS Ctlgrs587783755
Max Magnitude0
ClinVar
Risk rs587783755(A;A)
Alt rs587783755(A;A)
Reference rs587783755(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.149826372G>A
CLNSRC
CLNACC RCV000146376.1,