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rs587783788

From SNPedia

Orientationplus
Geno Mag Summary
(AAA;AAA) 0 common in clinvar
Make rs587783788(-;-)
Make rs587783788(-;AAA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150598594
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783788
ebirs587783788
HLIrs587783788
Exacrs587783788
Varsomers587783788
Maprs587783788
PheGenIrs587783788
hapmaprs587783788
1000 genomesrs587783788
hgdprs587783788
ensemblrs587783788
gopubmedrs587783788
geneviewrs587783788
scholarrs587783788
googlers587783788
pharmgkbrs587783788
gwascentralrs587783788
openSNPrs587783788
23andMers587783788
23andMe allrs587783788
SNP Nexus

SNPshotrs587783788
SNPdbers587783788
MSV3drs587783788
GWAS Ctlgrs587783788
Max Magnitude0
ClinVar
Risk rs587783788(;)
Alt rs587783788(;)
Reference rs587783788(AAA;AAA)
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.149767058_149767060delAAA
CLNSRC
CLNACC RCV000146410.1,