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rs797044503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs797044503(-;-)
Make rs797044503(-;GT)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150660432
GeneMTM1
is asnp
is mentioned by
dbSNPrs797044503
dbSNP (classic)rs797044503
ClinGenrs797044503
ebirs797044503
HLIrs797044503
Exacrs797044503
Gnomadrs797044503
Varsomers797044503
LitVarrs797044503
Maprs797044503
PheGenIrs797044503
Biobankrs797044503
1000 genomesrs797044503
hgdprs797044503
ensemblrs797044503
geneviewrs797044503
scholarrs797044503
googlers797044503
pharmgkbrs797044503
gwascentralrs797044503
openSNPrs797044503
23andMers797044503
SNPshotrs797044503
SNPdbers797044503
MSV3drs797044503
GWAS Ctlgrs797044503
Max Magnitude0
ClinVar
Risk rs797044503(-;-)
Alt rs797044503(-;-)
Reference Rs797044503(GT;GT)
Significance Pathogenic
Disease not provided Severe X-linked myotubular myopathy
Variation info
Gene MTM1
CLNDBN not provided Severe X-linked myotubular myopathy
Reversed 0
HGVS NC_000023.10:g.149828905_149828906delGT
CLNSRC
CLNACC RCV000153518.3, RCV000388294.1,