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rs587783200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783200(G;T)
Make rs587783200(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position25015704
GeneARX
is asnp
is mentioned by
dbSNPrs587783200
dbSNP (classic)rs587783200
ClinGenrs587783200
ebirs587783200
HLIrs587783200
Exacrs587783200
Gnomadrs587783200
Varsomers587783200
LitVarrs587783200
Maprs587783200
PheGenIrs587783200
Biobankrs587783200
1000 genomesrs587783200
hgdprs587783200
ensemblrs587783200
geneviewrs587783200
scholarrs587783200
googlers587783200
pharmgkbrs587783200
gwascentralrs587783200
openSNPrs587783200
23andMers587783200
SNPshotrs587783200
SNPdbers587783200
MSV3drs587783200
GWAS Ctlgrs587783200
Max Magnitude0
ClinVar
Risk rs587783200(C;C) rs587783200(T;T)
Alt rs587783200(C;C) rs587783200(T;T)
Reference Rs587783200(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene ARX
CLNDBN epileptic encephalopathy, early infanitle, 1
Reversed 1
HGVS NC_000023.10:g.25033821C>A
CLNSRC
CLNACC RCV000145056.1,