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rs587783796

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783796(A;A)
Make rs587783796(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150598600
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783796
ebirs587783796
HLIrs587783796
Exacrs587783796
Varsomers587783796
Maprs587783796
PheGenIrs587783796
hapmaprs587783796
1000 genomesrs587783796
hgdprs587783796
ensemblrs587783796
gopubmedrs587783796
geneviewrs587783796
scholarrs587783796
googlers587783796
pharmgkbrs587783796
gwascentralrs587783796
openSNPrs587783796
23andMers587783796
23andMe allrs587783796
SNP Nexus

SNPshotrs587783796
SNPdbers587783796
MSV3drs587783796
GWAS Ctlgrs587783796
Max Magnitude0
ClinVar
Risk rs587783796(A,T;A,T)
Alt rs587783796(A,T;A,T)
Reference rs587783796(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.149767064G>A; NC_000023.10:g.149767064G>T
CLNSRC
CLNACC RCV000146418.1, RCV000146419.1,