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rs267608429

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267608429(A;G)
Make rs267608429(G;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18564502
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608429
ebirs267608429
HLIrs267608429
Exacrs267608429
Varsomers267608429
Maprs267608429
PheGenIrs267608429
hapmaprs267608429
1000 genomesrs267608429
hgdprs267608429
ensemblrs267608429
gopubmedrs267608429
geneviewrs267608429
scholarrs267608429
googlers267608429
pharmgkbrs267608429
gwascentralrs267608429
openSNPrs267608429
23andMers267608429
23andMe allrs267608429
SNP Nexus

SNPshotrs267608429
SNPdbers267608429
MSV3drs267608429
GWAS Ctlgrs267608429
Max Magnitude0
ClinVar
Risk rs267608429(G;G)
Alt rs267608429(G;G)
Reference rs267608429(A;A)
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.18582622A>G
CLNSRC ClinVar University of Chicago
CLNACC RCV000133319.2, RCV000145514.1,