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rs797045717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTAAA;GTAAA) 0 common in clinvar
Make rs797045717(-;-)
Make rs797045717(-;AGTAA)
Make rs797045717(AGTAA;AGTAA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150614699
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045717
dbSNP (old)rs797045717
ClinGenrs797045717
ebirs797045717
HLIrs797045717
Exacrs797045717
Gnomadrs797045717
Varsomers797045717
Maprs797045717
PheGenIrs797045717
Biobankrs797045717
1000 genomesrs797045717
hgdprs797045717
ensemblrs797045717
gopubmedrs797045717
geneviewrs797045717
scholarrs797045717
googlers797045717
pharmgkbrs797045717
gwascentralrs797045717
openSNPrs797045717
23andMers797045717
23andMe allrs797045717
SNP Nexus

SNPshotrs797045717
SNPdbers797045717
MSV3drs797045717
GWAS Ctlgrs797045717
Max Magnitude0
ClinVar
Risk rs797045717(-;-)
Alt rs797045717(-;-)
Reference Rs797045717(GTAAA;GTAAA)
Significance Pathogenic
Disease Severe X-linked myotubular myopathy not provided
Variation info
Gene MTM1
CLNDBN Severe X-linked myotubular myopathy not provided
Reversed 0
HGVS NC_000023.10:g.149783172_149783176delAGTAA
CLNSRC
CLNACC RCV000195024.1, RCV000256076.1,