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rs267608441

From SNPedia

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Geno Mag Summary
(GAAG;GAAG) 0 common in clinvar
Make rs267608441(-;-)
Make rs267608441(-;GAAG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18575437
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608441
ebirs267608441
HLIrs267608441
Exacrs267608441
Varsomers267608441
Maprs267608441
PheGenIrs267608441
hapmaprs267608441
1000 genomesrs267608441
hgdprs267608441
ensemblrs267608441
gopubmedrs267608441
geneviewrs267608441
scholarrs267608441
googlers267608441
pharmgkbrs267608441
gwascentralrs267608441
openSNPrs267608441
23andMers267608441
23andMe allrs267608441
SNP Nexus

SNPshotrs267608441
SNPdbers267608441
MSV3drs267608441
GWAS Ctlgrs267608441
Max Magnitude0
ClinVar
Risk rs267608441(;)
Alt rs267608441(;)
Reference rs267608441(GAAG;GAAG)
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.18593557_18593560delGAAG
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133346.2,