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rs587783789

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783789(A;G)
Make rs587783789(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150660423
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783789
ebirs587783789
HLIrs587783789
Exacrs587783789
Varsomers587783789
Maprs587783789
PheGenIrs587783789
hapmaprs587783789
1000 genomesrs587783789
hgdprs587783789
ensemblrs587783789
gopubmedrs587783789
geneviewrs587783789
scholarrs587783789
googlers587783789
pharmgkbrs587783789
gwascentralrs587783789
openSNPrs587783789
23andMers587783789
23andMe allrs587783789
SNP Nexus

SNPshotrs587783789
SNPdbers587783789
MSV3drs587783789
GWAS Ctlgrs587783789
Max Magnitude0
ClinVar
Risk rs587783789(G;G)
Alt rs587783789(G;G)
Reference rs587783789(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.149828896A>G
CLNSRC
CLNACC RCV000146411.1,