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rs587783842

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783842(A;G)
Make rs587783842(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641369
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783842
ebirs587783842
HLIrs587783842
Exacrs587783842
Varsomers587783842
Maprs587783842
PheGenIrs587783842
hapmaprs587783842
1000 genomesrs587783842
hgdprs587783842
ensemblrs587783842
gopubmedrs587783842
geneviewrs587783842
scholarrs587783842
googlers587783842
pharmgkbrs587783842
gwascentralrs587783842
openSNPrs587783842
23andMers587783842
23andMe allrs587783842
SNP Nexus

SNPshotrs587783842
SNPdbers587783842
MSV3drs587783842
GWAS Ctlgrs587783842
Max Magnitude0
ClinVar
Risk rs587783842(G;G)
Alt rs587783842(G;G)
Reference rs587783842(A;A)
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.149809842A>G
CLNSRC
CLNACC RCV000146467.1,