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rs587783798

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783798(A;A)
Make rs587783798(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150660485
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783798
ebirs587783798
HLIrs587783798
Exacrs587783798
Varsomers587783798
Maprs587783798
PheGenIrs587783798
hapmaprs587783798
1000 genomesrs587783798
hgdprs587783798
ensemblrs587783798
gopubmedrs587783798
geneviewrs587783798
scholarrs587783798
googlers587783798
pharmgkbrs587783798
gwascentralrs587783798
openSNPrs587783798
23andMers587783798
23andMe allrs587783798
SNP Nexus

SNPshotrs587783798
SNPdbers587783798
MSV3drs587783798
GWAS Ctlgrs587783798
Max Magnitude0
ClinVar
Risk rs587783798(A,T;A,T)
Alt rs587783798(A,T;A,T)
Reference rs587783798(G;G)
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.149828958G>A; NC_000023.10:g.149828958G>T
CLNSRC
CLNACC RCV000146421.1, RCV000146422.1,