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

rs672601325

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs672601325(-;-)
Make rs672601325(-;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641345
GeneMTM1
is asnp
is mentioned by
dbSNPrs672601325
ebirs672601325
HLIrs672601325
Exacrs672601325
Varsomers672601325
Maprs672601325
PheGenIrs672601325
hapmaprs672601325
1000 genomesrs672601325
hgdprs672601325
ensemblrs672601325
gopubmedrs672601325
geneviewrs672601325
scholarrs672601325
googlers672601325
pharmgkbrs672601325
gwascentralrs672601325
openSNPrs672601325
23andMers672601325
23andMe allrs672601325
SNP Nexus

SNPshotrs672601325
SNPdbers672601325
MSV3drs672601325
GWAS Ctlgrs672601325
Max Magnitude0
ClinVar
Risk rs672601325(;)
Alt rs672601325(;)
Reference rs672601325(T;T)
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.149809818delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000011810.10,