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rs797044504

From SNPedia

Orientationplus
Make rs797044504(-;-)
Make rs797044504(-;AAGT)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150663612
GeneMTM1
is asnp
is mentioned by
dbSNPrs797044504
ClinGenrs797044504
ebirs797044504
HLIrs797044504
Exacrs797044504
Varsomers797044504
Maprs797044504
PheGenIrs797044504
hapmaprs797044504
1000 genomesrs797044504
hgdprs797044504
ensemblrs797044504
gopubmedrs797044504
geneviewrs797044504
scholarrs797044504
googlers797044504
pharmgkbrs797044504
gwascentralrs797044504
openSNPrs797044504
23andMers797044504
23andMe allrs797044504
SNP Nexus

SNPshotrs797044504
SNPdbers797044504
MSV3drs797044504
GWAS Ctlgrs797044504
Max Magnitude
ClinVar
Risk
Alt
Reference Rs797044504(AAGT;AAGT)
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.149832085_149832088delAAGT
CLNSRC HGMD
CLNACC RCV000153519.2, RCV000174668.1,