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rs267608651

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608651(-;-)
Make rs267608651(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18609484
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608651
ebirs267608651
HLIrs267608651
Exacrs267608651
Varsomers267608651
Maprs267608651
PheGenIrs267608651
hapmaprs267608651
1000 genomesrs267608651
hgdprs267608651
ensemblrs267608651
gopubmedrs267608651
geneviewrs267608651
scholarrs267608651
googlers267608651
pharmgkbrs267608651
gwascentralrs267608651
openSNPrs267608651
23andMers267608651
23andMe allrs267608651
SNP Nexus

SNPshotrs267608651
SNPdbers267608651
MSV3drs267608651
GWAS Ctlgrs267608651
Max Magnitude0
ClinVar
Risk rs267608651(;)
Alt rs267608651(;)
Reference rs267608651(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.18627604delC
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133342.2,