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rs267608437

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608437(C;T)
Make rs267608437(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18575407
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608437
ebirs267608437
HLIrs267608437
Exacrs267608437
Varsomers267608437
Maprs267608437
PheGenIrs267608437
hapmaprs267608437
1000 genomesrs267608437
hgdprs267608437
ensemblrs267608437
gopubmedrs267608437
geneviewrs267608437
scholarrs267608437
googlers267608437
pharmgkbrs267608437
gwascentralrs267608437
openSNPrs267608437
23andMers267608437
23andMe allrs267608437
SNP Nexus

SNPshotrs267608437
SNPdbers267608437
MSV3drs267608437
GWAS Ctlgrs267608437
Max Magnitude0
ClinVar
Risk rs267608437(T;T)
Alt rs267608437(T;T)
Reference rs267608437(C;C)
Significance Pathogenic
Disease not specified Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN not specified Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18593527C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000133338.2, RCV000145527.1,