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rs587783813

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783813(A;C)
Make rs587783813(C;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150614587
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783813
ebirs587783813
HLIrs587783813
Exacrs587783813
Varsomers587783813
Maprs587783813
PheGenIrs587783813
hapmaprs587783813
1000 genomesrs587783813
hgdprs587783813
ensemblrs587783813
gopubmedrs587783813
geneviewrs587783813
scholarrs587783813
googlers587783813
pharmgkbrs587783813
gwascentralrs587783813
openSNPrs587783813
23andMers587783813
23andMe allrs587783813
SNP Nexus

SNPshotrs587783813
SNPdbers587783813
MSV3drs587783813
GWAS Ctlgrs587783813
Max Magnitude0
ClinVar
Risk rs587783813(C;C)
Alt rs587783813(C;C)
Reference rs587783813(A;A)
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.149783060A>C
CLNSRC
CLNACC RCV000146438.1,