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rs869312662

From SNPedia

Orientationminus
Geno Mag Summary
(GTTCAC;GTTCAC) 0 common in clinvar
Make rs869312662(GTTCAC;TGTACCA)
Make rs869312662(TGTACCA;TGTACCA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position25012988
GeneARX
is asnp
is mentioned by
dbSNPrs869312662
ebirs869312662
HLIrs869312662
Exacrs869312662
Varsomers869312662
Maprs869312662
PheGenIrs869312662
hapmaprs869312662
1000 genomesrs869312662
hgdprs869312662
ensemblrs869312662
gopubmedrs869312662
geneviewrs869312662
scholarrs869312662
googlers869312662
pharmgkbrs869312662
gwascentralrs869312662
openSNPrs869312662
23andMers869312662
23andMe allrs869312662
SNP Nexus

SNPshotrs869312662
SNPdbers869312662
MSV3drs869312662
GWAS Ctlgrs869312662
Max Magnitude0
ClinVar
Risk rs869312662(TGTACCA;TGTACCA)
Alt rs869312662(TGTACCA;TGTACCA)
Reference rs869312662(GTTCAC;GTTCAC)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene ARX
CLNDBN Epileptic encephalopathy, early infantile, 1
Reversed 1
HGVS NC_000023.10:g.25031105_25031110delGTGAACinsTGGTACA
CLNSRC
CLNACC RCV000209847.1,