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rs797045290

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045290(-;CAAAG)
Make rs797045290(CAAAG;CAAAG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position25007394
GeneARX
is asnp
is mentioned by
dbSNPrs797045290
dbSNP (classic)rs797045290
ClinGenrs797045290
ebirs797045290
HLIrs797045290
Exacrs797045290
Gnomadrs797045290
Varsomers797045290
LitVarrs797045290
Maprs797045290
PheGenIrs797045290
Biobankrs797045290
1000 genomesrs797045290
hgdprs797045290
ensemblrs797045290
geneviewrs797045290
scholarrs797045290
googlers797045290
pharmgkbrs797045290
gwascentralrs797045290
openSNPrs797045290
23andMers797045290
SNPshotrs797045290
SNPdbers797045290
MSV3drs797045290
GWAS Ctlgrs797045290
Max Magnitude0
ClinVar
Risk rs797045290(CAAAG;CAAAG)
Alt rs797045290(CAAAG;CAAAG)
Reference Rs797045290(-;-)
Significance Pathogenic
Disease Lissencephaly 2
Variation info
Gene ARX
CLNDBN Lissencephaly 2, X-linked
Reversed 1
HGVS NC_000023.10:g.25025511_25025512insCTTTG
CLNSRC
CLNACC RCV000194939.1,