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rs587783848

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783848(A;A)
Make rs587783848(A;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641416
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783848
ebirs587783848
HLIrs587783848
Exacrs587783848
Varsomers587783848
Maprs587783848
PheGenIrs587783848
hapmaprs587783848
1000 genomesrs587783848
hgdprs587783848
ensemblrs587783848
gopubmedrs587783848
geneviewrs587783848
scholarrs587783848
googlers587783848
pharmgkbrs587783848
gwascentralrs587783848
openSNPrs587783848
23andMers587783848
23andMe allrs587783848
SNP Nexus

SNPshotrs587783848
SNPdbers587783848
MSV3drs587783848
GWAS Ctlgrs587783848
Max Magnitude0
ClinVar
Risk rs587783848(A;A)
Alt rs587783848(A;A)
Reference rs587783848(C;C)
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.149809889C>A
CLNSRC
CLNACC RCV000146474.1,