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rs267608435

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267608435(C;C)
Make rs267608435(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18575399
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608435
ebirs267608435
HLIrs267608435
Exacrs267608435
Varsomers267608435
Maprs267608435
PheGenIrs267608435
hapmaprs267608435
1000 genomesrs267608435
hgdprs267608435
ensemblrs267608435
gopubmedrs267608435
geneviewrs267608435
scholarrs267608435
googlers267608435
pharmgkbrs267608435
gwascentralrs267608435
openSNPrs267608435
23andMers267608435
23andMe allrs267608435
SNP Nexus

SNPshotrs267608435
SNPdbers267608435
MSV3drs267608435
GWAS Ctlgrs267608435
Max Magnitude0
ClinVar
Risk rs267608435(C;C)
Alt rs267608435(C;C)
Reference rs267608435(T;T)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18593519T>C
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133335.2,