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rs587783777

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783777(A;C)
Make rs587783777(C;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150659731
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783777
ebirs587783777
HLIrs587783777
Exacrs587783777
Varsomers587783777
Maprs587783777
PheGenIrs587783777
hapmaprs587783777
1000 genomesrs587783777
hgdprs587783777
ensemblrs587783777
gopubmedrs587783777
geneviewrs587783777
scholarrs587783777
googlers587783777
pharmgkbrs587783777
gwascentralrs587783777
openSNPrs587783777
23andMers587783777
23andMe allrs587783777
SNP Nexus

SNPshotrs587783777
SNPdbers587783777
MSV3drs587783777
GWAS Ctlgrs587783777
Max Magnitude0
ClinVar
Risk rs587783777(C;C)
Alt rs587783777(C;C)
Reference rs587783777(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.149828204A>C
CLNSRC
CLNACC RCV000146398.1,