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rs797045720

From SNPedia

Orientationplus
Make rs797045720(-;-)
Make rs797045720(-;AAAC)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150645809
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045720
ClinGenrs797045720
ebirs797045720
HLIrs797045720
Exacrs797045720
Varsomers797045720
Maprs797045720
PheGenIrs797045720
hapmaprs797045720
1000 genomesrs797045720
hgdprs797045720
ensemblrs797045720
gopubmedrs797045720
geneviewrs797045720
scholarrs797045720
googlers797045720
pharmgkbrs797045720
gwascentralrs797045720
openSNPrs797045720
23andMers797045720
23andMe allrs797045720
SNP Nexus

SNPshotrs797045720
SNPdbers797045720
MSV3drs797045720
GWAS Ctlgrs797045720
Max Magnitude
ClinVar
Risk
Alt
Reference Rs797045720(AAAC;AAAC)
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.149814282_149814285delAAAC
CLNSRC
CLNACC RCV000193231.1,