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

rs587783770

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783770(C;C)
Make rs587783770(C;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150659663
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783770
ebirs587783770
HLIrs587783770
Exacrs587783770
Varsomers587783770
Maprs587783770
PheGenIrs587783770
hapmaprs587783770
1000 genomesrs587783770
hgdprs587783770
ensemblrs587783770
gopubmedrs587783770
geneviewrs587783770
scholarrs587783770
googlers587783770
pharmgkbrs587783770
gwascentralrs587783770
openSNPrs587783770
23andMers587783770
23andMe allrs587783770
SNP Nexus

SNPshotrs587783770
SNPdbers587783770
MSV3drs587783770
GWAS Ctlgrs587783770
Max Magnitude0
ClinVar
Risk rs587783770(C;C)
Alt rs587783770(C;C)
Reference rs587783770(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.149828136G>C
CLNSRC
CLNACC RCV000146391.1,