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rs587783817

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783817(G;G)
Make rs587783817(G;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150592616
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783817
ebirs587783817
HLIrs587783817
Exacrs587783817
Varsomers587783817
Maprs587783817
PheGenIrs587783817
hapmaprs587783817
1000 genomesrs587783817
hgdprs587783817
ensemblrs587783817
gopubmedrs587783817
geneviewrs587783817
scholarrs587783817
googlers587783817
pharmgkbrs587783817
gwascentralrs587783817
openSNPrs587783817
23andMers587783817
23andMe allrs587783817
SNP Nexus

SNPshotrs587783817
SNPdbers587783817
MSV3drs587783817
GWAS Ctlgrs587783817
Max Magnitude0
ClinVar
Risk rs587783817(G;G)
Alt rs587783817(G;G)
Reference rs587783817(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.149761078T>G
CLNSRC
CLNACC RCV000146442.1,