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rs587783773

From SNPedia

Orientationplus
Geno Mag Summary
(AACC;AACC) 0 common in clinvar
Make rs587783773(-;-)
Make rs587783773(-;ACCA)
Make rs587783773(ACCA;ACCA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150659686
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783773
ebirs587783773
HLIrs587783773
Exacrs587783773
Varsomers587783773
Maprs587783773
PheGenIrs587783773
hapmaprs587783773
1000 genomesrs587783773
hgdprs587783773
ensemblrs587783773
gopubmedrs587783773
geneviewrs587783773
scholarrs587783773
googlers587783773
pharmgkbrs587783773
gwascentralrs587783773
openSNPrs587783773
23andMers587783773
23andMe allrs587783773
SNP Nexus

SNPshotrs587783773
SNPdbers587783773
MSV3drs587783773
GWAS Ctlgrs587783773
Max Magnitude0
ClinVar
Risk rs587783773(;)
Alt rs587783773(;)
Reference rs587783773(AACC;AACC)
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.149828159_149828162delACCA
CLNSRC
CLNACC RCV000146394.1,