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rs587783804

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783804(-;-)
Make rs587783804(-;A)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150598609
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783804
ebirs587783804
HLIrs587783804
Exacrs587783804
Varsomers587783804
Maprs587783804
PheGenIrs587783804
hapmaprs587783804
1000 genomesrs587783804
hgdprs587783804
ensemblrs587783804
gopubmedrs587783804
geneviewrs587783804
scholarrs587783804
googlers587783804
pharmgkbrs587783804
gwascentralrs587783804
openSNPrs587783804
23andMers587783804
23andMe allrs587783804
SNP Nexus

SNPshotrs587783804
SNPdbers587783804
MSV3drs587783804
GWAS Ctlgrs587783804
Max Magnitude0
ClinVar
Risk rs587783804(;)
Alt rs587783804(;)
Reference rs587783804(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.149767073delA
CLNSRC
CLNACC RCV000146428.1,