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rs587783785

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783785(A;T)
Make rs587783785(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150660393
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783785
ebirs587783785
HLIrs587783785
Exacrs587783785
Varsomers587783785
Maprs587783785
PheGenIrs587783785
hapmaprs587783785
1000 genomesrs587783785
hgdprs587783785
ensemblrs587783785
gopubmedrs587783785
geneviewrs587783785
scholarrs587783785
googlers587783785
pharmgkbrs587783785
gwascentralrs587783785
openSNPrs587783785
23andMers587783785
23andMe allrs587783785
SNP Nexus

SNPshotrs587783785
SNPdbers587783785
MSV3drs587783785
GWAS Ctlgrs587783785
Max Magnitude0
ClinVar
Risk rs587783785(G,T;G,T)
Alt rs587783785(G,T;G,T)
Reference rs587783785(A;A)
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.149828866A>T
CLNSRC
CLNACC RCV000146406.1,