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rs587783836

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783836(C;T)
Make rs587783836(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641297
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783836
ebirs587783836
HLIrs587783836
Exacrs587783836
Varsomers587783836
Maprs587783836
PheGenIrs587783836
hapmaprs587783836
1000 genomesrs587783836
hgdprs587783836
ensemblrs587783836
gopubmedrs587783836
geneviewrs587783836
scholarrs587783836
googlers587783836
pharmgkbrs587783836
gwascentralrs587783836
openSNPrs587783836
23andMers587783836
23andMe allrs587783836
SNP Nexus

SNPshotrs587783836
SNPdbers587783836
MSV3drs587783836
GWAS Ctlgrs587783836
Max Magnitude0
ClinVar
Risk rs587783836(T;T)
Alt rs587783836(T;T)
Reference rs587783836(C;C)
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.149809770C>T
CLNSRC
CLNACC RCV000146461.1,