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rs267608660

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608660(-;-)
Make rs267608660(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18628378
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608660
ebirs267608660
HLIrs267608660
Exacrs267608660
Varsomers267608660
Maprs267608660
PheGenIrs267608660
hapmaprs267608660
1000 genomesrs267608660
hgdprs267608660
ensemblrs267608660
gopubmedrs267608660
geneviewrs267608660
scholarrs267608660
googlers267608660
pharmgkbrs267608660
gwascentralrs267608660
openSNPrs267608660
23andMers267608660
23andMe allrs267608660
SNP Nexus

SNPshotrs267608660
SNPdbers267608660
MSV3drs267608660
GWAS Ctlgrs267608660
Max Magnitude0
ClinVar
Risk rs267608660(;)
Alt rs267608660(;)
Reference rs267608660(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.18646498delC
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133353.2,