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rs267608528

From SNPedia

Orientationplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs267608528(-;-)
Make rs267608528(-;TA)
Make rs267608528(TA;TA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18595404
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608528
ebirs267608528
HLIrs267608528
Exacrs267608528
Varsomers267608528
Maprs267608528
PheGenIrs267608528
hapmaprs267608528
1000 genomesrs267608528
hgdprs267608528
ensemblrs267608528
gopubmedrs267608528
geneviewrs267608528
scholarrs267608528
googlers267608528
pharmgkbrs267608528
gwascentralrs267608528
openSNPrs267608528
23andMers267608528
23andMe allrs267608528
SNP Nexus

SNPshotrs267608528
SNPdbers267608528
MSV3drs267608528
GWAS Ctlgrs267608528
Max Magnitude0
ClinVar
Risk rs267608528(;)
Alt rs267608528(;)
Reference rs267608528(AT;AT)
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.18613524_18613525delTA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133384.2,