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

rs587783758

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783758(A;T)
Make rs587783758(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150657906
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783758
ebirs587783758
HLIrs587783758
Exacrs587783758
Varsomers587783758
Maprs587783758
PheGenIrs587783758
hapmaprs587783758
1000 genomesrs587783758
hgdprs587783758
ensemblrs587783758
gopubmedrs587783758
geneviewrs587783758
scholarrs587783758
googlers587783758
pharmgkbrs587783758
gwascentralrs587783758
openSNPrs587783758
23andMers587783758
23andMe allrs587783758
SNP Nexus

SNPshotrs587783758
SNPdbers587783758
MSV3drs587783758
GWAS Ctlgrs587783758
Max Magnitude0
ClinVar
Risk rs587783758(T;T)
Alt rs587783758(T;T)
Reference rs587783758(A;A)
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.149826379A>T
CLNSRC
CLNACC RCV000146379.1,