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rs587783827

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783827(-;-)
Make rs587783827(-;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150638967
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783827
ebirs587783827
HLIrs587783827
Exacrs587783827
Varsomers587783827
Maprs587783827
PheGenIrs587783827
hapmaprs587783827
1000 genomesrs587783827
hgdprs587783827
ensemblrs587783827
gopubmedrs587783827
geneviewrs587783827
scholarrs587783827
googlers587783827
pharmgkbrs587783827
gwascentralrs587783827
openSNPrs587783827
23andMers587783827
23andMe allrs587783827
SNP Nexus

SNPshotrs587783827
SNPdbers587783827
MSV3drs587783827
GWAS Ctlgrs587783827
Max Magnitude0
ClinVar
Risk rs587783827(;)
Alt rs587783827(;)
Reference rs587783827(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.149807440delG
CLNSRC
CLNACC RCV000146452.1,