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rs587783764

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783764(G;T)
Make rs587783764(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150658000
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783764
ebirs587783764
HLIrs587783764
Exacrs587783764
Varsomers587783764
Maprs587783764
PheGenIrs587783764
hapmaprs587783764
1000 genomesrs587783764
hgdprs587783764
ensemblrs587783764
gopubmedrs587783764
geneviewrs587783764
scholarrs587783764
googlers587783764
pharmgkbrs587783764
gwascentralrs587783764
openSNPrs587783764
23andMers587783764
23andMe allrs587783764
SNP Nexus

SNPshotrs587783764
SNPdbers587783764
MSV3drs587783764
GWAS Ctlgrs587783764
Max Magnitude0
ClinVar
Risk rs587783764(T;T)
Alt rs587783764(T;T)
Reference rs587783764(G;G)
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.149826473G>T
CLNSRC
CLNACC RCV000146385.1,