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rs587783810

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783810(A;A)
Make rs587783810(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150598687
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783810
ebirs587783810
HLIrs587783810
Exacrs587783810
Varsomers587783810
Maprs587783810
PheGenIrs587783810
hapmaprs587783810
1000 genomesrs587783810
hgdprs587783810
ensemblrs587783810
gopubmedrs587783810
geneviewrs587783810
scholarrs587783810
googlers587783810
pharmgkbrs587783810
gwascentralrs587783810
openSNPrs587783810
23andMers587783810
23andMe allrs587783810
SNP Nexus

SNPshotrs587783810
SNPdbers587783810
MSV3drs587783810
GWAS Ctlgrs587783810
Max Magnitude0
ClinVar
Risk rs587783810(A;A)
Alt rs587783810(A;A)
Reference rs587783810(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.149767151G>A
CLNSRC
CLNACC RCV000146435.1,