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rs587783846

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783846(A;A)
Make rs587783846(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150596497
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783846
ebirs587783846
HLIrs587783846
Exacrs587783846
Varsomers587783846
Maprs587783846
PheGenIrs587783846
hapmaprs587783846
1000 genomesrs587783846
hgdprs587783846
ensemblrs587783846
gopubmedrs587783846
geneviewrs587783846
scholarrs587783846
googlers587783846
pharmgkbrs587783846
gwascentralrs587783846
openSNPrs587783846
23andMers587783846
23andMe allrs587783846
SNP Nexus

SNPshotrs587783846
SNPdbers587783846
MSV3drs587783846
GWAS Ctlgrs587783846
Max Magnitude0
ClinVar
Risk rs587783846(A;A)
Alt rs587783846(A;A)
Reference rs587783846(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.149764961G>A
CLNSRC
CLNACC RCV000146472.1,