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rs587783769

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783769(A;A)
Make rs587783769(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150658032
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783769
ebirs587783769
HLIrs587783769
Exacrs587783769
Varsomers587783769
Maprs587783769
PheGenIrs587783769
hapmaprs587783769
1000 genomesrs587783769
hgdprs587783769
ensemblrs587783769
gopubmedrs587783769
geneviewrs587783769
scholarrs587783769
googlers587783769
pharmgkbrs587783769
gwascentralrs587783769
openSNPrs587783769
23andMers587783769
23andMe allrs587783769
SNP Nexus

SNPshotrs587783769
SNPdbers587783769
MSV3drs587783769
GWAS Ctlgrs587783769
Max Magnitude0
ClinVar
Risk rs587783769(A;A)
Alt rs587783769(A;A)
Reference rs587783769(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.149826505G>A
CLNSRC
CLNACC RCV000146390.1,