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rs587783833

From SNPedia

Orientationplus
Geno Mag Summary
(CCAATCA;CCAATCA) 0 common in clinvar
Make rs587783833(-;-)
Make rs587783833(-;ATCACCA)
Make rs587783833(ATCACCA;ATCACCA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641279
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783833
ebirs587783833
HLIrs587783833
Exacrs587783833
Varsomers587783833
Maprs587783833
PheGenIrs587783833
hapmaprs587783833
1000 genomesrs587783833
hgdprs587783833
ensemblrs587783833
gopubmedrs587783833
geneviewrs587783833
scholarrs587783833
googlers587783833
pharmgkbrs587783833
gwascentralrs587783833
openSNPrs587783833
23andMers587783833
23andMe allrs587783833
SNP Nexus

SNPshotrs587783833
SNPdbers587783833
MSV3drs587783833
GWAS Ctlgrs587783833
Max Magnitude0
ClinVar
Risk rs587783833(;)
Alt rs587783833(;)
Reference rs587783833(CCAATCA;CCAATCA)
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.149809752_149809758delATCACCA
CLNSRC
CLNACC RCV000146458.1,