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rs863225290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225290(A;G)
Make rs863225290(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position18579918
GeneCDKL5
is asnp
is mentioned by
dbSNPrs863225290
dbSNP (classic)rs863225290
ClinGenrs863225290
ebirs863225290
HLIrs863225290
Exacrs863225290
Gnomadrs863225290
Varsomers863225290
LitVarrs863225290
Maprs863225290
PheGenIrs863225290
Biobankrs863225290
1000 genomesrs863225290
hgdprs863225290
ensemblrs863225290
geneviewrs863225290
scholarrs863225290
googlers863225290
pharmgkbrs863225290
gwascentralrs863225290
openSNPrs863225290
23andMers863225290
SNPshotrs863225290
SNPdbers863225290
MSV3drs863225290
GWAS Ctlgrs863225290
Max Magnitude0
ClinVar
Risk rs863225290(G;G)
Alt rs863225290(G;G)
Reference Rs863225290(A;A)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18598038A>G
CLNSRC
CLNACC RCV000201944.1,