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rs587783782

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783782(A;A)
Make rs587783782(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150660370
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783782
ebirs587783782
HLIrs587783782
Exacrs587783782
Varsomers587783782
Maprs587783782
PheGenIrs587783782
hapmaprs587783782
1000 genomesrs587783782
hgdprs587783782
ensemblrs587783782
gopubmedrs587783782
geneviewrs587783782
scholarrs587783782
googlers587783782
pharmgkbrs587783782
gwascentralrs587783782
openSNPrs587783782
23andMers587783782
23andMe allrs587783782
SNP Nexus

SNPshotrs587783782
SNPdbers587783782
MSV3drs587783782
GWAS Ctlgrs587783782
Max Magnitude0
ClinVar
Risk rs587783782(A;A)
Alt rs587783782(A;A)
Reference rs587783782(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.149828843G>A
CLNSRC
CLNACC RCV000146403.1,