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rs587783765

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783765(A;G)
Make rs587783765(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150658001
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783765
ebirs587783765
HLIrs587783765
Exacrs587783765
Varsomers587783765
Maprs587783765
PheGenIrs587783765
hapmaprs587783765
1000 genomesrs587783765
hgdprs587783765
ensemblrs587783765
gopubmedrs587783765
geneviewrs587783765
scholarrs587783765
googlers587783765
pharmgkbrs587783765
gwascentralrs587783765
openSNPrs587783765
23andMers587783765
23andMe allrs587783765
SNP Nexus

SNPshotrs587783765
SNPdbers587783765
MSV3drs587783765
GWAS Ctlgrs587783765
Max Magnitude0
ClinVar
Risk rs587783765(G;G)
Alt rs587783765(G;G)
Reference rs587783765(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.149826474A>G
CLNSRC
CLNACC RCV000146386.1,