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rs587783814

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783814(A;A)
Make rs587783814(A;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150614586
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783814
ebirs587783814
HLIrs587783814
Exacrs587783814
Varsomers587783814
Maprs587783814
PheGenIrs587783814
hapmaprs587783814
1000 genomesrs587783814
hgdprs587783814
ensemblrs587783814
gopubmedrs587783814
geneviewrs587783814
scholarrs587783814
googlers587783814
pharmgkbrs587783814
gwascentralrs587783814
openSNPrs587783814
23andMers587783814
23andMe allrs587783814
SNP Nexus

SNPshotrs587783814
SNPdbers587783814
MSV3drs587783814
GWAS Ctlgrs587783814
Max Magnitude0
ClinVar
Risk rs587783814(A;A)
Alt rs587783814(A;A)
Reference rs587783814(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.149783059C>A
CLNSRC
CLNACC RCV000146439.1,