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rs587783815

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783815(-;-)
Make rs587783815(-;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150614609
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783815
ebirs587783815
HLIrs587783815
Exacrs587783815
Varsomers587783815
Maprs587783815
PheGenIrs587783815
hapmaprs587783815
1000 genomesrs587783815
hgdprs587783815
ensemblrs587783815
gopubmedrs587783815
geneviewrs587783815
scholarrs587783815
googlers587783815
pharmgkbrs587783815
gwascentralrs587783815
openSNPrs587783815
23andMers587783815
23andMe allrs587783815
SNP Nexus

SNPshotrs587783815
SNPdbers587783815
MSV3drs587783815
GWAS Ctlgrs587783815
Max Magnitude0
ClinVar
Risk rs587783815(;)
Alt rs587783815(;)
Reference rs587783815(T;T)
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.149783082delT
CLNSRC
CLNACC RCV000146440.1,