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rs267608618

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608618(C;G)
Make rs267608618(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18604162
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608618
ebirs267608618
HLIrs267608618
Exacrs267608618
Varsomers267608618
Maprs267608618
PheGenIrs267608618
hapmaprs267608618
1000 genomesrs267608618
hgdprs267608618
ensemblrs267608618
gopubmedrs267608618
geneviewrs267608618
scholarrs267608618
googlers267608618
pharmgkbrs267608618
gwascentralrs267608618
openSNPrs267608618
23andMers267608618
23andMe allrs267608618
SNP Nexus

SNPshotrs267608618
SNPdbers267608618
MSV3drs267608618
GWAS Ctlgrs267608618
Max Magnitude0
ClinVar
Risk rs267608618(G;G)
Alt rs267608618(G;G)
Reference rs267608618(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.18622282C>G
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133318.2,