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rs797045712

From SNPedia

Orientationplus
Make rs797045712(-;-)
Make rs797045712(-;A)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150659686
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045712
ebirs797045712
HLIrs797045712
Exacrs797045712
Varsomers797045712
Maprs797045712
PheGenIrs797045712
hapmaprs797045712
1000 genomesrs797045712
hgdprs797045712
ensemblrs797045712
gopubmedrs797045712
geneviewrs797045712
scholarrs797045712
googlers797045712
pharmgkbrs797045712
gwascentralrs797045712
openSNPrs797045712
23andMers797045712
23andMe allrs797045712
SNP Nexus

SNPshotrs797045712
SNPdbers797045712
MSV3drs797045712
GWAS Ctlgrs797045712
Max Magnitude
ClinVar
Risk rs797045712(;)
Alt rs797045712(;)
Reference rs797045712(A;A)
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.149828159delA
CLNSRC
CLNACC RCV000192715.1,