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

rs587783832

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783832(C;T)
Make rs587783832(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641275
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783832
ebirs587783832
HLIrs587783832
Exacrs587783832
Varsomers587783832
Maprs587783832
PheGenIrs587783832
hapmaprs587783832
1000 genomesrs587783832
hgdprs587783832
ensemblrs587783832
gopubmedrs587783832
geneviewrs587783832
scholarrs587783832
googlers587783832
pharmgkbrs587783832
gwascentralrs587783832
openSNPrs587783832
23andMers587783832
23andMe allrs587783832
SNP Nexus

SNPshotrs587783832
SNPdbers587783832
MSV3drs587783832
GWAS Ctlgrs587783832
Max Magnitude0
ClinVar
Risk rs587783832(T;T)
Alt rs587783832(T;T)
Reference rs587783832(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.149809748C>T
CLNSRC
CLNACC RCV000146457.1,