Have questions? Visit https://www.reddit.com/r/SNPedia

rs398123275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123275(C;T)
Make rs398123275(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position150596504
GeneMTM1
is asnp
is mentioned by
dbSNPrs398123275
dbSNP (classic)rs398123275
ClinGenrs398123275
ebirs398123275
HLIrs398123275
Exacrs398123275
Gnomadrs398123275
Varsomers398123275
LitVarrs398123275
Maprs398123275
PheGenIrs398123275
Biobankrs398123275
1000 genomesrs398123275
hgdprs398123275
ensemblrs398123275
geneviewrs398123275
scholarrs398123275
googlers398123275
pharmgkbrs398123275
gwascentralrs398123275
openSNPrs398123275
23andMers398123275
SNPshotrs398123275
SNPdbers398123275
MSV3drs398123275
GWAS Ctlgrs398123275
Max Magnitude0
ClinVar
Risk rs398123275(T;T)
Alt rs398123275(T;T)
Reference Rs398123275(C;C)
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.149764968C>T
CLNSRC HGMD
CLNACC RCV000078437.4, RCV000264401.1,