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rs267608561

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608561(C;T)
Make rs267608561(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18603963
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608561
ebirs267608561
HLIrs267608561
Exacrs267608561
Varsomers267608561
Maprs267608561
PheGenIrs267608561
hapmaprs267608561
1000 genomesrs267608561
hgdprs267608561
ensemblrs267608561
gopubmedrs267608561
geneviewrs267608561
scholarrs267608561
googlers267608561
pharmgkbrs267608561
gwascentralrs267608561
openSNPrs267608561
23andMers267608561
23andMe allrs267608561
SNP Nexus

SNPshotrs267608561
SNPdbers267608561
MSV3drs267608561
GWAS Ctlgrs267608561
Max Magnitude0
ClinVar
Risk rs267608561(T;T)
Alt rs267608561(T;T)
Reference rs267608561(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.18622083C>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133313.2,