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rs587783761

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783761(G;G)
Make rs587783761(G;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150657958
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783761
ebirs587783761
HLIrs587783761
Exacrs587783761
Varsomers587783761
Maprs587783761
PheGenIrs587783761
hapmaprs587783761
1000 genomesrs587783761
hgdprs587783761
ensemblrs587783761
gopubmedrs587783761
geneviewrs587783761
scholarrs587783761
googlers587783761
pharmgkbrs587783761
gwascentralrs587783761
openSNPrs587783761
23andMers587783761
23andMe allrs587783761
SNP Nexus

SNPshotrs587783761
SNPdbers587783761
MSV3drs587783761
GWAS Ctlgrs587783761
Max Magnitude0
ClinVar
Risk rs587783761(C,G;C,G)
Alt rs587783761(C,G;C,G)
Reference rs587783761(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.149826431T>G
CLNSRC
CLNACC RCV000146382.1,