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rs587783803

From SNPedia

Orientationplus
Geno Mag Summary
(TACA;TACA) 0 common in clinvar
Make rs587783803(-;-)
Make rs587783803(-;CATA)
Make rs587783803(CATA;CATA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150598608
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783803
ebirs587783803
HLIrs587783803
Exacrs587783803
Varsomers587783803
Maprs587783803
PheGenIrs587783803
hapmaprs587783803
1000 genomesrs587783803
hgdprs587783803
ensemblrs587783803
gopubmedrs587783803
geneviewrs587783803
scholarrs587783803
googlers587783803
pharmgkbrs587783803
gwascentralrs587783803
openSNPrs587783803
23andMers587783803
23andMe allrs587783803
SNP Nexus

SNPshotrs587783803
SNPdbers587783803
MSV3drs587783803
GWAS Ctlgrs587783803
Max Magnitude0
ClinVar
Risk rs587783803(;)
Alt rs587783803(;)
Reference rs587783803(TACA;TACA)
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.149767072_149767075delCATA
CLNSRC
CLNACC RCV000146427.1,