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rs587783751

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783751(C;C)
Make rs587783751(C;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150649902
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783751
ebirs587783751
HLIrs587783751
Exacrs587783751
Varsomers587783751
Maprs587783751
PheGenIrs587783751
hapmaprs587783751
1000 genomesrs587783751
hgdprs587783751
ensemblrs587783751
gopubmedrs587783751
geneviewrs587783751
scholarrs587783751
googlers587783751
pharmgkbrs587783751
gwascentralrs587783751
openSNPrs587783751
23andMers587783751
23andMe allrs587783751
SNP Nexus

SNPshotrs587783751
SNPdbers587783751
MSV3drs587783751
GWAS Ctlgrs587783751
Max Magnitude0
ClinVar
Risk rs587783751(C;C)
Alt rs587783751(C;C)
Reference rs587783751(G;G)
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.149818375G>C
CLNSRC
CLNACC RCV000146372.1,