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rs587783839

From SNPedia

Orientationplus
Geno Mag Summary
(ACTT;ACTT) 0 common in clinvar
Make rs587783839(-;-)
Make rs587783839(-;TTAC)
Make rs587783839(TTAC;TTAC)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641331
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783839
ebirs587783839
HLIrs587783839
Exacrs587783839
Varsomers587783839
Maprs587783839
PheGenIrs587783839
hapmaprs587783839
1000 genomesrs587783839
hgdprs587783839
ensemblrs587783839
gopubmedrs587783839
geneviewrs587783839
scholarrs587783839
googlers587783839
pharmgkbrs587783839
gwascentralrs587783839
openSNPrs587783839
23andMers587783839
23andMe allrs587783839
SNP Nexus

SNPshotrs587783839
SNPdbers587783839
MSV3drs587783839
GWAS Ctlgrs587783839
Max Magnitude0
ClinVar
Risk rs587783839(;)
Alt rs587783839(;)
Reference rs587783839(ACTT;ACTT)
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.149809804_149809807delTTAC
CLNSRC
CLNACC RCV000146464.1,