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rs267608566

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs267608566(-;-)
Make rs267608566(-;C)
Make rs267608566(C;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18604006
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608566
ebirs267608566
HLIrs267608566
Exacrs267608566
Varsomers267608566
Maprs267608566
PheGenIrs267608566
hapmaprs267608566
1000 genomesrs267608566
hgdprs267608566
ensemblrs267608566
gopubmedrs267608566
geneviewrs267608566
scholarrs267608566
googlers267608566
pharmgkbrs267608566
gwascentralrs267608566
openSNPrs267608566
23andMers267608566
23andMe allrs267608566
SNP Nexus

SNPshotrs267608566
SNPdbers267608566
MSV3drs267608566
GWAS Ctlgrs267608566
Max Magnitude0
ClinVar
Risk rs267608566(C;C)
Alt rs267608566(C;C)
Reference rs267608566(;)
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.18622126dupC
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133315.2,