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rs587783791

From SNPedia

Orientationplus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
Make rs587783791(-;-)
Make rs587783791(-;AGAA)
Make rs587783791(AGAA;AGAA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150598596
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783791
ebirs587783791
HLIrs587783791
Exacrs587783791
Varsomers587783791
Maprs587783791
PheGenIrs587783791
hapmaprs587783791
1000 genomesrs587783791
hgdprs587783791
ensemblrs587783791
gopubmedrs587783791
geneviewrs587783791
scholarrs587783791
googlers587783791
pharmgkbrs587783791
gwascentralrs587783791
openSNPrs587783791
23andMers587783791
23andMe allrs587783791
SNP Nexus

SNPshotrs587783791
SNPdbers587783791
MSV3drs587783791
GWAS Ctlgrs587783791
Max Magnitude0
ClinVar
Risk rs587783791(;)
Alt rs587783791(;)
Reference rs587783791(AAAG;AAAG)
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.149767060_149767063delAGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000011806.10,