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rs797045714

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045714(-;A)
Make rs797045714(A;A)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150596564
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045714
ClinGenrs797045714
ebirs797045714
HLIrs797045714
Exacrs797045714
Varsomers797045714
Maprs797045714
PheGenIrs797045714
hapmaprs797045714
1000 genomesrs797045714
hgdprs797045714
ensemblrs797045714
gopubmedrs797045714
geneviewrs797045714
scholarrs797045714
googlers797045714
pharmgkbrs797045714
gwascentralrs797045714
openSNPrs797045714
23andMers797045714
23andMe allrs797045714
SNP Nexus

SNPshotrs797045714
SNPdbers797045714
MSV3drs797045714
GWAS Ctlgrs797045714
Max Magnitude0
ClinVar
Risk rs797045714(A;A)
Alt rs797045714(A;A)
Reference Rs797045714(;)
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.149765028dupA
CLNSRC
CLNACC RCV000194745.1,