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rs267608565

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267608565(-;-)
Make rs267608565(-;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18604003
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608565
ebirs267608565
HLIrs267608565
Exacrs267608565
Varsomers267608565
Maprs267608565
PheGenIrs267608565
hapmaprs267608565
1000 genomesrs267608565
hgdprs267608565
ensemblrs267608565
gopubmedrs267608565
geneviewrs267608565
scholarrs267608565
googlers267608565
pharmgkbrs267608565
gwascentralrs267608565
openSNPrs267608565
23andMers267608565
23andMe allrs267608565
SNP Nexus

SNPshotrs267608565
SNPdbers267608565
MSV3drs267608565
GWAS Ctlgrs267608565
Max Magnitude0
ClinVar
Risk rs267608565(;)
Alt rs267608565(;)
Reference rs267608565(T;T)
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.18622123delT
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133314.2,