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rs797045715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAACAGGT;AAAACAGGT) 0 common in clinvar
Make rs797045715(-;-)
Make rs797045715(-;AACAGGTAA)
Make rs797045715(AACAGGTAA;AACAGGTAA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150659752
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045715
dbSNP (old)rs797045715
ClinGenrs797045715
ebirs797045715
HLIrs797045715
Exacrs797045715
Varsomers797045715
Maprs797045715
PheGenIrs797045715
Biobankrs797045715
1000 genomesrs797045715
hgdprs797045715
ensemblrs797045715
gopubmedrs797045715
geneviewrs797045715
scholarrs797045715
googlers797045715
pharmgkbrs797045715
gwascentralrs797045715
openSNPrs797045715
23andMers797045715
23andMe allrs797045715
SNP Nexus

SNPshotrs797045715
SNPdbers797045715
MSV3drs797045715
GWAS Ctlgrs797045715
Max Magnitude0
ClinVar
Risk rs797045715(-;-)
Alt rs797045715(-;-)
Reference Rs797045715(AAAACAGGT;AAAACAGGT)
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.149828225_149828233delAACAGGTAA
CLNSRC
CLNACC RCV000192959.1,