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rs587783843

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783843(A;A)
Make rs587783843(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150592678
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783843
ebirs587783843
HLIrs587783843
Exacrs587783843
Varsomers587783843
Maprs587783843
PheGenIrs587783843
hapmaprs587783843
1000 genomesrs587783843
hgdprs587783843
ensemblrs587783843
gopubmedrs587783843
geneviewrs587783843
scholarrs587783843
googlers587783843
pharmgkbrs587783843
gwascentralrs587783843
openSNPrs587783843
23andMers587783843
23andMe allrs587783843
SNP Nexus

SNPshotrs587783843
SNPdbers587783843
MSV3drs587783843
GWAS Ctlgrs587783843
Max Magnitude0
ClinVar
Risk rs587783843(A;A)
Alt rs587783843(A;A)
Reference rs587783843(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.149761140G>A
CLNSRC
CLNACC RCV000146468.1,