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rs587783772

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783772(A;A)
Make rs587783772(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150659665
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783772
ebirs587783772
HLIrs587783772
Exacrs587783772
Varsomers587783772
Maprs587783772
PheGenIrs587783772
hapmaprs587783772
1000 genomesrs587783772
hgdprs587783772
ensemblrs587783772
gopubmedrs587783772
geneviewrs587783772
scholarrs587783772
googlers587783772
pharmgkbrs587783772
gwascentralrs587783772
openSNPrs587783772
23andMers587783772
23andMe allrs587783772
SNP Nexus

SNPshotrs587783772
SNPdbers587783772
MSV3drs587783772
GWAS Ctlgrs587783772
Max Magnitude0
ClinVar
Risk rs587783772(A;A)
Alt rs587783772(A;A)
Reference rs587783772(G;G)
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.149828138G>A
CLNSRC
CLNACC RCV000146393.1,