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rs587783780

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783780(C;C)
Make rs587783780(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150659758
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783780
ebirs587783780
HLIrs587783780
Exacrs587783780
Varsomers587783780
Maprs587783780
PheGenIrs587783780
hapmaprs587783780
1000 genomesrs587783780
hgdprs587783780
ensemblrs587783780
gopubmedrs587783780
geneviewrs587783780
scholarrs587783780
googlers587783780
pharmgkbrs587783780
gwascentralrs587783780
openSNPrs587783780
23andMers587783780
23andMe allrs587783780
SNP Nexus

SNPshotrs587783780
SNPdbers587783780
MSV3drs587783780
GWAS Ctlgrs587783780
Max Magnitude0
ClinVar
Risk rs587783780(C;C)
Alt rs587783780(C;C)
Reference rs587783780(T;T)
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.149828231T>C
CLNSRC
CLNACC RCV000146401.1,