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rs387906715

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906715(A;A)
Make rs387906715(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position25004755
GeneARX
is asnp
is mentioned by
dbSNPrs387906715
dbSNP (classic)rs387906715
ClinGenrs387906715
ebirs387906715
HLIrs387906715
Exacrs387906715
Gnomadrs387906715
Varsomers387906715
LitVarrs387906715
Maprs387906715
PheGenIrs387906715
Biobankrs387906715
1000 genomesrs387906715
hgdprs387906715
ensemblrs387906715
geneviewrs387906715
scholarrs387906715
googlers387906715
pharmgkbrs387906715
gwascentralrs387906715
openSNPrs387906715
23andMers387906715
SNPshotrs387906715
SNPdbers387906715
MSV3drs387906715
GWAS Ctlgrs387906715
Max Magnitude0
ClinVar
Risk rs387906715(A;A)
Alt rs387906715(A;A)
Reference Rs387906715(T;T)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene ARX
CLNDBN Epileptic encephalopathy, early infantile, 1
Reversed 1
HGVS NC_000023.10:g.25022872A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022857.5,