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rs794726959

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726959(A;A)
Make rs794726959(A;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position25015708
GeneARX
is asnp
is mentioned by
dbSNPrs794726959
dbSNP (classic)rs794726959
ClinGenrs794726959
ebirs794726959
HLIrs794726959
Exacrs794726959
Gnomadrs794726959
Varsomers794726959
LitVarrs794726959
Maprs794726959
PheGenIrs794726959
Biobankrs794726959
1000 genomesrs794726959
hgdprs794726959
ensemblrs794726959
geneviewrs794726959
scholarrs794726959
googlers794726959
pharmgkbrs794726959
gwascentralrs794726959
openSNPrs794726959
23andMers794726959
SNPshotrs794726959
SNPdbers794726959
MSV3drs794726959
GWAS Ctlgrs794726959
Max Magnitude0
ClinVar
Risk rs794726959(A;A)
Alt rs794726959(A;A)
Reference Rs794726959(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene ARX
CLNDBN Epileptic encephalopathy, early infantile, 1
Reversed 1
HGVS NC_000023.10:g.25033825G>T
CLNSRC
CLNACC RCV000173566.1,