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rs267608661

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267608661(-;-)
Make rs267608661(-;A)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18628403
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608661
ebirs267608661
HLIrs267608661
Exacrs267608661
Varsomers267608661
Maprs267608661
PheGenIrs267608661
hapmaprs267608661
1000 genomesrs267608661
hgdprs267608661
ensemblrs267608661
gopubmedrs267608661
geneviewrs267608661
scholarrs267608661
googlers267608661
pharmgkbrs267608661
gwascentralrs267608661
openSNPrs267608661
23andMers267608661
23andMe allrs267608661
SNP Nexus

SNPshotrs267608661
SNPdbers267608661
MSV3drs267608661
GWAS Ctlgrs267608661
Max Magnitude0
ClinVar
Risk rs267608661(;)
Alt rs267608661(;)
Reference rs267608661(A;A)
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.18646523delA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133354.2,