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rs587783824

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783824(-;-)
Make rs587783824(-;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150619097
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783824
ebirs587783824
HLIrs587783824
Exacrs587783824
Varsomers587783824
Maprs587783824
PheGenIrs587783824
hapmaprs587783824
1000 genomesrs587783824
hgdprs587783824
ensemblrs587783824
gopubmedrs587783824
geneviewrs587783824
scholarrs587783824
googlers587783824
pharmgkbrs587783824
gwascentralrs587783824
openSNPrs587783824
23andMers587783824
23andMe allrs587783824
SNP Nexus

SNPshotrs587783824
SNPdbers587783824
MSV3drs587783824
GWAS Ctlgrs587783824
Max Magnitude0
ClinVar
Risk rs587783824(;)
Alt rs587783824(;)
Reference rs587783824(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.149787570delT
CLNSRC
CLNACC RCV000146449.1,