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rs267608648

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608648(-;-)
Make rs267608648(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18608882
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608648
ebirs267608648
HLIrs267608648
Exacrs267608648
Varsomers267608648
Maprs267608648
PheGenIrs267608648
hapmaprs267608648
1000 genomesrs267608648
hgdprs267608648
ensemblrs267608648
gopubmedrs267608648
geneviewrs267608648
scholarrs267608648
googlers267608648
pharmgkbrs267608648
gwascentralrs267608648
openSNPrs267608648
23andMers267608648
23andMe allrs267608648
SNP Nexus

SNPshotrs267608648
SNPdbers267608648
MSV3drs267608648
GWAS Ctlgrs267608648
Max Magnitude0
ClinVar
Risk rs267608648(;)
Alt rs267608648(;)
Reference rs267608648(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.18627002delC
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133339.2,