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rs587783762

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783762(C;C)
Make rs587783762(C;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150657972
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783762
ebirs587783762
HLIrs587783762
Exacrs587783762
Varsomers587783762
Maprs587783762
PheGenIrs587783762
hapmaprs587783762
1000 genomesrs587783762
hgdprs587783762
ensemblrs587783762
gopubmedrs587783762
geneviewrs587783762
scholarrs587783762
googlers587783762
pharmgkbrs587783762
gwascentralrs587783762
openSNPrs587783762
23andMers587783762
23andMe allrs587783762
SNP Nexus

SNPshotrs587783762
SNPdbers587783762
MSV3drs587783762
GWAS Ctlgrs587783762
Max Magnitude0
ClinVar
Risk rs587783762(C;C)
Alt rs587783762(C;C)
Reference rs587783762(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.149826445G>C
CLNSRC
CLNACC RCV000146383.1,