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rs587783825

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783825(C;G)
Make rs587783825(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150619115
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783825
ebirs587783825
HLIrs587783825
Exacrs587783825
Varsomers587783825
Maprs587783825
PheGenIrs587783825
hapmaprs587783825
1000 genomesrs587783825
hgdprs587783825
ensemblrs587783825
gopubmedrs587783825
geneviewrs587783825
scholarrs587783825
googlers587783825
pharmgkbrs587783825
gwascentralrs587783825
openSNPrs587783825
23andMers587783825
23andMe allrs587783825
SNP Nexus

SNPshotrs587783825
SNPdbers587783825
MSV3drs587783825
GWAS Ctlgrs587783825
Max Magnitude0
ClinVar
Risk rs587783825(G;G)
Alt rs587783825(G;G)
Reference rs587783825(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.149787588C>G
CLNSRC
CLNACC RCV000146450.1,