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rs267608654

From SNPedia

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Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs267608654(-;-)
Make rs267608654(-;GA)
Make rs267608654(GA;GA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18619915
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608654
ebirs267608654
HLIrs267608654
Exacrs267608654
Varsomers267608654
Maprs267608654
PheGenIrs267608654
hapmaprs267608654
1000 genomesrs267608654
hgdprs267608654
ensemblrs267608654
gopubmedrs267608654
geneviewrs267608654
scholarrs267608654
googlers267608654
pharmgkbrs267608654
gwascentralrs267608654
openSNPrs267608654
23andMers267608654
23andMe allrs267608654
SNP Nexus

SNPshotrs267608654
SNPdbers267608654
MSV3drs267608654
GWAS Ctlgrs267608654
Max Magnitude0
ClinVar
Risk rs267608654(;)
Alt rs267608654(;)
Reference rs267608654(AG;AG)
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.18638035_18638036delGA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133347.2,