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rs267608662

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608662(-;-)
Make rs267608662(-;C)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18628446
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608662
ebirs267608662
HLIrs267608662
Exacrs267608662
Varsomers267608662
Maprs267608662
PheGenIrs267608662
hapmaprs267608662
1000 genomesrs267608662
hgdprs267608662
ensemblrs267608662
gopubmedrs267608662
geneviewrs267608662
scholarrs267608662
googlers267608662
pharmgkbrs267608662
gwascentralrs267608662
openSNPrs267608662
23andMers267608662
23andMe allrs267608662
SNP Nexus

SNPshotrs267608662
SNPdbers267608662
MSV3drs267608662
GWAS Ctlgrs267608662
Max Magnitude0
ClinVar
Risk rs267608662(;)
Alt rs267608662(;)
Reference rs267608662(C;C)
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.18646566delC
CLNSRC ClinVar University of Chicago
CLNACC RCV000133355.2, RCV000145532.1,