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rs267608501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608501(C;T)
Make rs267608501(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18587986
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608501
ebirs267608501
HLIrs267608501
Exacrs267608501
Varsomers267608501
Maprs267608501
PheGenIrs267608501
hapmaprs267608501
1000 genomesrs267608501
hgdprs267608501
ensemblrs267608501
gopubmedrs267608501
geneviewrs267608501
scholarrs267608501
googlers267608501
pharmgkbrs267608501
gwascentralrs267608501
openSNPrs267608501
23andMers267608501
23andMe allrs267608501
SNP Nexus

SNPshotrs267608501
SNPdbers267608501
MSV3drs267608501
GWAS Ctlgrs267608501
Max Magnitude0
ClinVar
Risk rs267608501(T;T)
Alt rs267608501(T;T)
Reference rs267608501(C;C)
Significance Other
Disease Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18606106C>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000145544.3,