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rs587783786

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783786(G;T)
Make rs587783786(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150660395
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783786
ebirs587783786
HLIrs587783786
Exacrs587783786
Varsomers587783786
Maprs587783786
PheGenIrs587783786
hapmaprs587783786
1000 genomesrs587783786
hgdprs587783786
ensemblrs587783786
gopubmedrs587783786
geneviewrs587783786
scholarrs587783786
googlers587783786
pharmgkbrs587783786
gwascentralrs587783786
openSNPrs587783786
23andMers587783786
23andMe allrs587783786
SNP Nexus

SNPshotrs587783786
SNPdbers587783786
MSV3drs587783786
GWAS Ctlgrs587783786
Max Magnitude0
ClinVar
Risk rs587783786(T;T)
Alt rs587783786(T;T)
Reference rs587783786(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.149828868G>T
CLNSRC
CLNACC RCV000146407.1,