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rs587783805

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783805(C;T)
Make rs587783805(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150663523
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783805
ebirs587783805
HLIrs587783805
Exacrs587783805
Varsomers587783805
Maprs587783805
PheGenIrs587783805
hapmaprs587783805
1000 genomesrs587783805
hgdprs587783805
ensemblrs587783805
gopubmedrs587783805
geneviewrs587783805
scholarrs587783805
googlers587783805
pharmgkbrs587783805
gwascentralrs587783805
openSNPrs587783805
23andMers587783805
23andMe allrs587783805
SNP Nexus

SNPshotrs587783805
SNPdbers587783805
MSV3drs587783805
GWAS Ctlgrs587783805
Max Magnitude0
ClinVar
Risk rs587783805(T;T)
Alt rs587783805(T;T)
Reference rs587783805(C;C)
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.149831996C>T
CLNSRC
CLNACC RCV000146429.1,