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rs587783778

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783778(A;A)
Make rs587783778(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150659740
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783778
ebirs587783778
HLIrs587783778
Exacrs587783778
Varsomers587783778
Maprs587783778
PheGenIrs587783778
hapmaprs587783778
1000 genomesrs587783778
hgdprs587783778
ensemblrs587783778
gopubmedrs587783778
geneviewrs587783778
scholarrs587783778
googlers587783778
pharmgkbrs587783778
gwascentralrs587783778
openSNPrs587783778
23andMers587783778
23andMe allrs587783778
SNP Nexus

SNPshotrs587783778
SNPdbers587783778
MSV3drs587783778
GWAS Ctlgrs587783778
Max Magnitude0
ClinVar
Risk rs587783778(A;A)
Alt rs587783778(A;A)
Reference rs587783778(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.149828213G>A
CLNSRC
CLNACC RCV000146399.1,