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rs587783754

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783754(C;G)
Make rs587783754(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150657887
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783754
ebirs587783754
HLIrs587783754
Exacrs587783754
Varsomers587783754
Maprs587783754
PheGenIrs587783754
hapmaprs587783754
1000 genomesrs587783754
hgdprs587783754
ensemblrs587783754
gopubmedrs587783754
geneviewrs587783754
scholarrs587783754
googlers587783754
pharmgkbrs587783754
gwascentralrs587783754
openSNPrs587783754
23andMers587783754
23andMe allrs587783754
SNP Nexus

SNPshotrs587783754
SNPdbers587783754
MSV3drs587783754
GWAS Ctlgrs587783754
Max Magnitude0
ClinVar
Risk rs587783754(G;G)
Alt rs587783754(G;G)
Reference rs587783754(C;C)
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.149826360C>G
CLNSRC
CLNACC RCV000146375.1,