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rs1057516031

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516031(G;T)
Make rs1057516031(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position150598681
GeneMTM1
is asnp
is mentioned by
dbSNPrs1057516031
dbSNP (old)rs1057516031
ClinGenrs1057516031
ebirs1057516031
HLIrs1057516031
Exacrs1057516031
Gnomadrs1057516031
Varsomers1057516031
Maprs1057516031
PheGenIrs1057516031
Biobankrs1057516031
1000 genomesrs1057516031
hgdprs1057516031
ensemblrs1057516031
gopubmedrs1057516031
geneviewrs1057516031
scholarrs1057516031
googlers1057516031
pharmgkbrs1057516031
gwascentralrs1057516031
openSNPrs1057516031
23andMers1057516031
23andMe allrs1057516031
SNPshotrs1057516031
SNPdbers1057516031
MSV3drs1057516031
GWAS Ctlgrs1057516031
Max Magnitude0
ClinVar
Risk rs1057516031(T;T)
Alt rs1057516031(T;T)
Reference Rs1057516031(G;G)
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.149767145G>T
CLNSRC
CLNACC RCV000408634.1,