Have questions? Visit https://www.reddit.com/r/SNPedia

rs267608653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608653(A;A)
Make rs267608653(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18609570
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608653
ebirs267608653
HLIrs267608653
Exacrs267608653
Varsomers267608653
Maprs267608653
PheGenIrs267608653
hapmaprs267608653
1000 genomesrs267608653
hgdprs267608653
ensemblrs267608653
gopubmedrs267608653
geneviewrs267608653
scholarrs267608653
googlers267608653
pharmgkbrs267608653
gwascentralrs267608653
openSNPrs267608653
23andMers267608653
23andMe allrs267608653
SNP Nexus

SNPshotrs267608653
SNPdbers267608653
MSV3drs267608653
GWAS Ctlgrs267608653
Max Magnitude0
ClinVar
Risk rs267608653(A;A)
Alt rs267608653(A;A)
Reference rs267608653(G;G)
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.18627690G>A
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133343.3, RCV000169912.1,