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rs267608421

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608421(G;T)
Make rs267608421(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18510855
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608421
ebirs267608421
HLIrs267608421
Exacrs267608421
Varsomers267608421
Maprs267608421
PheGenIrs267608421
hapmaprs267608421
1000 genomesrs267608421
hgdprs267608421
ensemblrs267608421
gopubmedrs267608421
geneviewrs267608421
scholarrs267608421
googlers267608421
pharmgkbrs267608421
gwascentralrs267608421
openSNPrs267608421
23andMers267608421
23andMe allrs267608421
SNP Nexus

SNPshotrs267608421
SNPdbers267608421
MSV3drs267608421
GWAS Ctlgrs267608421
Max Magnitude0
ClinVar
Risk rs267608421(T;T)
Alt rs267608421(T;T)
Reference rs267608421(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.18528975G>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000144145.1, RCV000170058.1,