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rs587783768

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783768(A;A)
Make rs587783768(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150658028
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783768
ebirs587783768
HLIrs587783768
Exacrs587783768
Varsomers587783768
Maprs587783768
PheGenIrs587783768
hapmaprs587783768
1000 genomesrs587783768
hgdprs587783768
ensemblrs587783768
gopubmedrs587783768
geneviewrs587783768
scholarrs587783768
googlers587783768
pharmgkbrs587783768
gwascentralrs587783768
openSNPrs587783768
23andMers587783768
23andMe allrs587783768
SNP Nexus

SNPshotrs587783768
SNPdbers587783768
MSV3drs587783768
GWAS Ctlgrs587783768
Max Magnitude0
ClinVar
Risk rs587783768(A;A)
Alt rs587783768(A;A)
Reference rs587783768(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.149826501G>A
CLNSRC
CLNACC RCV000146389.1,