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rs267608663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608663(C;T)
Make rs267608663(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18628467
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608663
ebirs267608663
HLIrs267608663
Exacrs267608663
Varsomers267608663
Maprs267608663
PheGenIrs267608663
hapmaprs267608663
1000 genomesrs267608663
hgdprs267608663
ensemblrs267608663
gopubmedrs267608663
geneviewrs267608663
scholarrs267608663
googlers267608663
pharmgkbrs267608663
gwascentralrs267608663
openSNPrs267608663
23andMers267608663
23andMe allrs267608663
SNP Nexus

SNPshotrs267608663
SNPdbers267608663
MSV3drs267608663
GWAS Ctlgrs267608663
Max Magnitude0
ClinVar
Risk rs267608663(T;T)
Alt rs267608663(T;T)
Reference rs267608663(C;C)
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.18646587C>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000145533.2,