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rs587783862

From SNPedia

Orientationplus
Geno Mag Summary
(TTC;TTC) 0 common in clinvar
Make rs587783862(-;-)
Make rs587783862(-;CTT)
Make rs587783862(CTT;CTT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150649772
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783862
ebirs587783862
HLIrs587783862
Exacrs587783862
Varsomers587783862
Maprs587783862
PheGenIrs587783862
hapmaprs587783862
1000 genomesrs587783862
hgdprs587783862
ensemblrs587783862
gopubmedrs587783862
geneviewrs587783862
scholarrs587783862
googlers587783862
pharmgkbrs587783862
gwascentralrs587783862
openSNPrs587783862
23andMers587783862
23andMe allrs587783862
SNP Nexus

SNPshotrs587783862
SNPdbers587783862
MSV3drs587783862
GWAS Ctlgrs587783862
Max Magnitude0
ClinVar
Risk rs587783862(;)
Alt rs587783862(;)
Reference rs587783862(TTC;TTC)
Significance Probable-Pathogenic
Disease Severe X-linked myotubular myopathy
Variation info
Gene MTM1
CLNDBN Severe X-linked myotubular myopathy
Reversed 0
HGVS NC_000023.10:g.149818245_149818247delCTT
CLNSRC
CLNACC RCV000146489.1,