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rs587783192

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783192(-;-)
Make rs587783192(-;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position25004815
GeneARX
is asnp
is mentioned by
dbSNPrs587783192
dbSNP (classic)rs587783192
ClinGenrs587783192
ebirs587783192
HLIrs587783192
Exacrs587783192
Gnomadrs587783192
Varsomers587783192
LitVarrs587783192
Maprs587783192
PheGenIrs587783192
Biobankrs587783192
1000 genomesrs587783192
hgdprs587783192
ensemblrs587783192
geneviewrs587783192
scholarrs587783192
googlers587783192
pharmgkbrs587783192
gwascentralrs587783192
openSNPrs587783192
23andMers587783192
SNPshotrs587783192
SNPdbers587783192
MSV3drs587783192
GWAS Ctlgrs587783192
Max Magnitude0
ClinVar
Risk rs587783192(-;-)
Alt rs587783192(-;-)
Reference Rs587783192(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene ARX
CLNDBN epileptic encephalopathy, early infanitle, 1
Reversed 1
HGVS NC_000023.10:g.25022932delC
CLNSRC
CLNACC RCV000145048.1,