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rs587783760

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783760(C;C)
Make rs587783760(C;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150657947
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783760
ebirs587783760
HLIrs587783760
Exacrs587783760
Varsomers587783760
Maprs587783760
PheGenIrs587783760
hapmaprs587783760
1000 genomesrs587783760
hgdprs587783760
ensemblrs587783760
gopubmedrs587783760
geneviewrs587783760
scholarrs587783760
googlers587783760
pharmgkbrs587783760
gwascentralrs587783760
openSNPrs587783760
23andMers587783760
23andMe allrs587783760
SNP Nexus

SNPshotrs587783760
SNPdbers587783760
MSV3drs587783760
GWAS Ctlgrs587783760
Max Magnitude0
ClinVar
Risk rs587783760(C;C)
Alt rs587783760(C;C)
Reference rs587783760(G;G)
Significance Probable-Pathogenic
Disease Severe X-linked myotubular myopathy
Variation info
Gene MTM1
CLNDBN Severe X-linked myotubular myopathy
Reversed 0
HGVS NC_000023.10:g.149826420G>C
CLNSRC
CLNACC RCV000146381.1,