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rs797045713

From SNPedia

Orientationplus
Make rs797045713(-;-)
Make rs797045713(-;CTC)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150659707
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045713
ebirs797045713
HLIrs797045713
Exacrs797045713
Varsomers797045713
Maprs797045713
PheGenIrs797045713
hapmaprs797045713
1000 genomesrs797045713
hgdprs797045713
ensemblrs797045713
gopubmedrs797045713
geneviewrs797045713
scholarrs797045713
googlers797045713
pharmgkbrs797045713
gwascentralrs797045713
openSNPrs797045713
23andMers797045713
23andMe allrs797045713
SNP Nexus

SNPshotrs797045713
SNPdbers797045713
MSV3drs797045713
GWAS Ctlgrs797045713
Max Magnitude
ClinVar
Risk rs797045713(;)
Alt rs797045713(;)
Reference rs797045713(CTC;CTC)
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.149828180_149828182delCTC
CLNSRC
CLNACC RCV000193932.1,