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rs587783830

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783830(G;T)
Make rs587783830(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150639027
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783830
ebirs587783830
HLIrs587783830
Exacrs587783830
Varsomers587783830
Maprs587783830
PheGenIrs587783830
hapmaprs587783830
1000 genomesrs587783830
hgdprs587783830
ensemblrs587783830
gopubmedrs587783830
geneviewrs587783830
scholarrs587783830
googlers587783830
pharmgkbrs587783830
gwascentralrs587783830
openSNPrs587783830
23andMers587783830
23andMe allrs587783830
SNP Nexus

SNPshotrs587783830
SNPdbers587783830
MSV3drs587783830
GWAS Ctlgrs587783830
Max Magnitude0
ClinVar
Risk rs587783830(T;T)
Alt rs587783830(T;T)
Reference rs587783830(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.149807500G>T
CLNSRC
CLNACC RCV000146455.1,