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rs587783763

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783763(A;A)
Make rs587783763(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150657999
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783763
ebirs587783763
HLIrs587783763
Exacrs587783763
Varsomers587783763
Maprs587783763
PheGenIrs587783763
hapmaprs587783763
1000 genomesrs587783763
hgdprs587783763
ensemblrs587783763
gopubmedrs587783763
geneviewrs587783763
scholarrs587783763
googlers587783763
pharmgkbrs587783763
gwascentralrs587783763
openSNPrs587783763
23andMers587783763
23andMe allrs587783763
SNP Nexus

SNPshotrs587783763
SNPdbers587783763
MSV3drs587783763
GWAS Ctlgrs587783763
Max Magnitude0
ClinVar
Risk rs587783763(A;A)
Alt rs587783763(A;A)
Reference rs587783763(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.149826472G>A
CLNSRC
CLNACC RCV000146384.1,