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rs587783823

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783823(A;A)
Make rs587783823(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150592617
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783823
ebirs587783823
HLIrs587783823
Exacrs587783823
Varsomers587783823
Maprs587783823
PheGenIrs587783823
hapmaprs587783823
1000 genomesrs587783823
hgdprs587783823
ensemblrs587783823
gopubmedrs587783823
geneviewrs587783823
scholarrs587783823
googlers587783823
pharmgkbrs587783823
gwascentralrs587783823
openSNPrs587783823
23andMers587783823
23andMe allrs587783823
SNP Nexus

SNPshotrs587783823
SNPdbers587783823
MSV3drs587783823
GWAS Ctlgrs587783823
Max Magnitude0
ClinVar
Risk rs587783823(A;A)
Alt rs587783823(A;A)
Reference rs587783823(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.149761079G>A
CLNSRC
CLNACC RCV000146448.1,