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rs267606713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606713(C;T)
Make rs267606713(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18598499
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267606713
ebirs267606713
HLIrs267606713
Exacrs267606713
Varsomers267606713
Maprs267606713
PheGenIrs267606713
hapmaprs267606713
1000 genomesrs267606713
hgdprs267606713
ensemblrs267606713
gopubmedrs267606713
geneviewrs267606713
scholarrs267606713
googlers267606713
pharmgkbrs267606713
gwascentralrs267606713
openSNPrs267606713
23andMers267606713
23andMe allrs267606713
SNP Nexus

SNPshotrs267606713
SNPdbers267606713
MSV3drs267606713
GWAS Ctlgrs267606713
Max Magnitude0
ClinVar
Risk rs267606713(T;T)
Alt rs267606713(T;T)
Reference rs267606713(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.18616619C>T
CLNSRC OMIM Allelic Variant RettBASE (CDKL5)
CLNACC RCV000012259.14,