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rs267608542

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608542(-;-)
Make rs267608542(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18598520
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608542
ebirs267608542
HLIrs267608542
Exacrs267608542
Varsomers267608542
Maprs267608542
PheGenIrs267608542
hapmaprs267608542
1000 genomesrs267608542
hgdprs267608542
ensemblrs267608542
gopubmedrs267608542
geneviewrs267608542
scholarrs267608542
googlers267608542
pharmgkbrs267608542
gwascentralrs267608542
openSNPrs267608542
23andMers267608542
23andMe allrs267608542
SNP Nexus

SNPshotrs267608542
SNPdbers267608542
MSV3drs267608542
GWAS Ctlgrs267608542
Max Magnitude0
ClinVar
Risk rs267608542(;)
Alt rs267608542(;)
Reference rs267608542(C;C)
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.18616640delC
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133390.2,