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rs587783838

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783838(A;G)
Make rs587783838(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641315
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783838
ebirs587783838
HLIrs587783838
Exacrs587783838
Varsomers587783838
Maprs587783838
PheGenIrs587783838
hapmaprs587783838
1000 genomesrs587783838
hgdprs587783838
ensemblrs587783838
gopubmedrs587783838
geneviewrs587783838
scholarrs587783838
googlers587783838
pharmgkbrs587783838
gwascentralrs587783838
openSNPrs587783838
23andMers587783838
23andMe allrs587783838
SNP Nexus

SNPshotrs587783838
SNPdbers587783838
MSV3drs587783838
GWAS Ctlgrs587783838
Max Magnitude0
ClinVar
Risk rs587783838(G;G)
Alt rs587783838(G;G)
Reference rs587783838(A;A)
Significance Probable-Pathogenic
Disease Severe X-linked myotubular myopathy
Variation info
Gene MTM1
CLNDBN Severe X-linked myotubular myopathy
Reversed 0
HGVS NC_000023.10:g.149809788A>G
CLNSRC
CLNACC RCV000146463.2,