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rs587783771

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783771(C;T)
Make rs587783771(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150659664
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783771
ebirs587783771
HLIrs587783771
Exacrs587783771
Varsomers587783771
Maprs587783771
PheGenIrs587783771
hapmaprs587783771
1000 genomesrs587783771
hgdprs587783771
ensemblrs587783771
gopubmedrs587783771
geneviewrs587783771
scholarrs587783771
googlers587783771
pharmgkbrs587783771
gwascentralrs587783771
openSNPrs587783771
23andMers587783771
23andMe allrs587783771
SNP Nexus

SNPshotrs587783771
SNPdbers587783771
MSV3drs587783771
GWAS Ctlgrs587783771
Max Magnitude0
ClinVar
Risk rs587783771(T;T)
Alt rs587783771(T;T)
Reference rs587783771(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.149828137C>T
CLNSRC
CLNACC RCV000146392.1,