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rs587783795

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783795(C;T)
Make rs587783795(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150660473
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783795
ebirs587783795
HLIrs587783795
Exacrs587783795
Varsomers587783795
Maprs587783795
PheGenIrs587783795
hapmaprs587783795
1000 genomesrs587783795
hgdprs587783795
ensemblrs587783795
gopubmedrs587783795
geneviewrs587783795
scholarrs587783795
googlers587783795
pharmgkbrs587783795
gwascentralrs587783795
openSNPrs587783795
23andMers587783795
23andMe allrs587783795
SNP Nexus

SNPshotrs587783795
SNPdbers587783795
MSV3drs587783795
GWAS Ctlgrs587783795
Max Magnitude0
ClinVar
Risk rs587783795(T;T)
Alt rs587783795(T;T)
Reference rs587783795(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.149828946C>T
CLNSRC
CLNACC RCV000146417.1,