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rs267608490

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608490(A;A)
Make rs267608490(A;C)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18584312
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608490
ebirs267608490
HLIrs267608490
Exacrs267608490
Varsomers267608490
Maprs267608490
PheGenIrs267608490
hapmaprs267608490
1000 genomesrs267608490
hgdprs267608490
ensemblrs267608490
gopubmedrs267608490
geneviewrs267608490
scholarrs267608490
googlers267608490
pharmgkbrs267608490
gwascentralrs267608490
openSNPrs267608490
23andMers267608490
23andMe allrs267608490
SNP Nexus

SNPshotrs267608490
SNPdbers267608490
MSV3drs267608490
GWAS Ctlgrs267608490
Max Magnitude0
ClinVar
Risk rs267608490(A;A)
Alt rs267608490(A;A)
Reference rs267608490(C;C)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN not provided Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18602432C>A
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133371.3, RCV000145541.2,