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rs587783809

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783809(C;T)
Make rs587783809(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150598663
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783809
ebirs587783809
HLIrs587783809
Exacrs587783809
Varsomers587783809
Maprs587783809
PheGenIrs587783809
hapmaprs587783809
1000 genomesrs587783809
hgdprs587783809
ensemblrs587783809
gopubmedrs587783809
geneviewrs587783809
scholarrs587783809
googlers587783809
pharmgkbrs587783809
gwascentralrs587783809
openSNPrs587783809
23andMers587783809
23andMe allrs587783809
SNP Nexus

SNPshotrs587783809
SNPdbers587783809
MSV3drs587783809
GWAS Ctlgrs587783809
Max Magnitude0
ClinVar
Risk rs587783809(T;T)
Alt rs587783809(T;T)
Reference rs587783809(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.149767127C>T
CLNSRC
CLNACC RCV000146434.1,