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rs797044858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044858(A;A)
Make rs797044858(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position18584313
GeneCDKL5
is asnp
is mentioned by
dbSNPrs797044858
dbSNP (classic)rs797044858
ClinGenrs797044858
ebirs797044858
HLIrs797044858
Exacrs797044858
Gnomadrs797044858
Varsomers797044858
LitVarrs797044858
Maprs797044858
PheGenIrs797044858
Biobankrs797044858
1000 genomesrs797044858
hgdprs797044858
ensemblrs797044858
geneviewrs797044858
scholarrs797044858
googlers797044858
pharmgkbrs797044858
gwascentralrs797044858
openSNPrs797044858
23andMers797044858
SNPshotrs797044858
SNPdbers797044858
MSV3drs797044858
GWAS Ctlgrs797044858
Max Magnitude0
ClinVar
Risk rs797044858(A;A)
Alt rs797044858(A;A)
Reference Rs797044858(G;G)
Significance Pathogenic
Disease Inborn genetic diseases
Variation info
Gene CDKL5
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000023.10:g.18602433G>A
CLNSRC
CLNACC RCV000190660.1,