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rs587783821

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783821(A;G)
Make rs587783821(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150619036
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783821
ebirs587783821
HLIrs587783821
Exacrs587783821
Varsomers587783821
Maprs587783821
PheGenIrs587783821
hapmaprs587783821
1000 genomesrs587783821
hgdprs587783821
ensemblrs587783821
gopubmedrs587783821
geneviewrs587783821
scholarrs587783821
googlers587783821
pharmgkbrs587783821
gwascentralrs587783821
openSNPrs587783821
23andMers587783821
23andMe allrs587783821
SNP Nexus

SNPshotrs587783821
SNPdbers587783821
MSV3drs587783821
GWAS Ctlgrs587783821
Max Magnitude0
ClinVar
Risk rs587783821(G;G)
Alt rs587783821(G;G)
Reference rs587783821(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.149787509A>G
CLNSRC
CLNACC RCV000146446.1,