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rs587783855

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783855(A;C)
Make rs587783855(C;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150645783
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783855
ebirs587783855
HLIrs587783855
Exacrs587783855
Varsomers587783855
Maprs587783855
PheGenIrs587783855
hapmaprs587783855
1000 genomesrs587783855
hgdprs587783855
ensemblrs587783855
gopubmedrs587783855
geneviewrs587783855
scholarrs587783855
googlers587783855
pharmgkbrs587783855
gwascentralrs587783855
openSNPrs587783855
23andMers587783855
23andMe allrs587783855
SNP Nexus

SNPshotrs587783855
SNPdbers587783855
MSV3drs587783855
GWAS Ctlgrs587783855
Max Magnitude0
ClinVar
Risk rs587783855(C;C)
Alt rs587783855(C;C)
Reference rs587783855(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.149814256A>C
CLNSRC
CLNACC RCV000146482.1,