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rs797045719

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045719(-;G)
Make rs797045719(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150641289
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045719
dbSNP (old)rs797045719
ClinGenrs797045719
ebirs797045719
HLIrs797045719
Exacrs797045719
Gnomadrs797045719
Varsomers797045719
Maprs797045719
PheGenIrs797045719
Biobankrs797045719
1000 genomesrs797045719
hgdprs797045719
ensemblrs797045719
gopubmedrs797045719
geneviewrs797045719
scholarrs797045719
googlers797045719
pharmgkbrs797045719
gwascentralrs797045719
openSNPrs797045719
23andMers797045719
23andMe allrs797045719
SNP Nexus

SNPshotrs797045719
SNPdbers797045719
MSV3drs797045719
GWAS Ctlgrs797045719
Max Magnitude0
ClinVar
Risk rs797045719(G;G)
Alt rs797045719(G;G)
Reference Rs797045719(-;-)
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.149809762dupG
CLNSRC
CLNACC RCV000195004.1,