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rs587783831

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783831(A;G)
Make rs587783831(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641267
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783831
ebirs587783831
HLIrs587783831
Exacrs587783831
Varsomers587783831
Maprs587783831
PheGenIrs587783831
hapmaprs587783831
1000 genomesrs587783831
hgdprs587783831
ensemblrs587783831
gopubmedrs587783831
geneviewrs587783831
scholarrs587783831
googlers587783831
pharmgkbrs587783831
gwascentralrs587783831
openSNPrs587783831
23andMers587783831
23andMe allrs587783831
SNP Nexus

SNPshotrs587783831
SNPdbers587783831
MSV3drs587783831
GWAS Ctlgrs587783831
Max Magnitude0
ClinVar
Risk rs587783831(G;G)
Alt rs587783831(G;G)
Reference rs587783831(A;A)
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.149809740A>G
CLNSRC
CLNACC RCV000146456.1,