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rs587783797

From SNPedia

Orientationplus
Geno Mag Summary
(AGAC;AGAC) 0 common in clinvar
Make rs587783797(-;-)
Make rs587783797(-;ACAG)
Make rs587783797(ACAG;ACAG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150660481
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783797
ebirs587783797
HLIrs587783797
Exacrs587783797
Varsomers587783797
Maprs587783797
PheGenIrs587783797
hapmaprs587783797
1000 genomesrs587783797
hgdprs587783797
ensemblrs587783797
gopubmedrs587783797
geneviewrs587783797
scholarrs587783797
googlers587783797
pharmgkbrs587783797
gwascentralrs587783797
openSNPrs587783797
23andMers587783797
23andMe allrs587783797
SNP Nexus

SNPshotrs587783797
SNPdbers587783797
MSV3drs587783797
GWAS Ctlgrs587783797
Max Magnitude0
ClinVar
Risk rs587783797(;)
Alt rs587783797(;)
Reference rs587783797(AGAC;AGAC)
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.149828954_149828957delACAG
CLNSRC
CLNACC RCV000146420.1,