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rs587783865

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783865(-;-)
Make rs587783865(-;A)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150649817
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783865
ebirs587783865
HLIrs587783865
Exacrs587783865
Varsomers587783865
Maprs587783865
PheGenIrs587783865
hapmaprs587783865
1000 genomesrs587783865
hgdprs587783865
ensemblrs587783865
gopubmedrs587783865
geneviewrs587783865
scholarrs587783865
googlers587783865
pharmgkbrs587783865
gwascentralrs587783865
openSNPrs587783865
23andMers587783865
23andMe allrs587783865
SNP Nexus

SNPshotrs587783865
SNPdbers587783865
MSV3drs587783865
GWAS Ctlgrs587783865
Max Magnitude0
ClinVar
Risk rs587783865(;)
Alt rs587783865(;)
Reference rs587783865(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.149818290delA
CLNSRC
CLNACC RCV000146492.1,