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

rs587783774

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783774(C;T)
Make rs587783774(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150659710
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783774
ebirs587783774
HLIrs587783774
Exacrs587783774
Varsomers587783774
Maprs587783774
PheGenIrs587783774
hapmaprs587783774
1000 genomesrs587783774
hgdprs587783774
ensemblrs587783774
gopubmedrs587783774
geneviewrs587783774
scholarrs587783774
googlers587783774
pharmgkbrs587783774
gwascentralrs587783774
openSNPrs587783774
23andMers587783774
23andMe allrs587783774
SNP Nexus

SNPshotrs587783774
SNPdbers587783774
MSV3drs587783774
GWAS Ctlgrs587783774
Max Magnitude0
ClinVar
Risk rs587783774(T;T)
Alt rs587783774(T;T)
Reference rs587783774(C;C)
Significance Probable-Pathogenic
Disease Severe X-linked myotubular myopathy
Variation info
Gene MTM1
CLNDBN Severe X-linked myotubular myopathy
Reversed 0
HGVS NC_000023.10:g.149828183C>T
CLNSRC
CLNACC RCV000146395.1,