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rs587783812

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783812(A;A)
Make rs587783812(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150614588
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783812
ebirs587783812
HLIrs587783812
Exacrs587783812
Varsomers587783812
Maprs587783812
PheGenIrs587783812
hapmaprs587783812
1000 genomesrs587783812
hgdprs587783812
ensemblrs587783812
gopubmedrs587783812
geneviewrs587783812
scholarrs587783812
googlers587783812
pharmgkbrs587783812
gwascentralrs587783812
openSNPrs587783812
23andMers587783812
23andMe allrs587783812
SNP Nexus

SNPshotrs587783812
SNPdbers587783812
MSV3drs587783812
GWAS Ctlgrs587783812
Max Magnitude0
ClinVar
Risk rs587783812(A;A)
Alt rs587783812(A;A)
Reference rs587783812(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.149783061G>A
CLNSRC
CLNACC RCV000146437.1,