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rs587783800

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783800(A;A)
Make rs587783800(A;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150663455
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783800
ebirs587783800
HLIrs587783800
Exacrs587783800
Varsomers587783800
Maprs587783800
PheGenIrs587783800
hapmaprs587783800
1000 genomesrs587783800
hgdprs587783800
ensemblrs587783800
gopubmedrs587783800
geneviewrs587783800
scholarrs587783800
googlers587783800
pharmgkbrs587783800
gwascentralrs587783800
openSNPrs587783800
23andMers587783800
23andMe allrs587783800
SNP Nexus

SNPshotrs587783800
SNPdbers587783800
MSV3drs587783800
GWAS Ctlgrs587783800
Max Magnitude0
ClinVar
Risk rs587783800(A;A)
Alt rs587783800(A;A)
Reference rs587783800(C;C)
Significance Probable-Pathogenic
Disease Severe X-linked myotubular myopathy
Variation info
Gene MTM1
CLNDBN Severe X-linked myotubular myopathy
Reversed 0
HGVS NC_000023.10:g.149831928C>A
CLNSRC
CLNACC RCV000146424.1,