Have questions? Visit https://www.reddit.com/r/SNPedia

rs267608420

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs267608420(-;G)
Make rs267608420(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position18510820
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608420
ClinGenrs267608420
ebirs267608420
HLIrs267608420
Exacrs267608420
Varsomers267608420
Maprs267608420
PheGenIrs267608420
hapmaprs267608420
1000 genomesrs267608420
hgdprs267608420
ensemblrs267608420
gopubmedrs267608420
geneviewrs267608420
scholarrs267608420
googlers267608420
pharmgkbrs267608420
gwascentralrs267608420
openSNPrs267608420
23andMers267608420
23andMe allrs267608420
SNP Nexus

SNPshotrs267608420
SNPdbers267608420
MSV3drs267608420
GWAS Ctlgrs267608420
Max Magnitude0
ClinVar
Risk rs267608420(G;G)
Alt rs267608420(G;G)
Reference Rs267608420(;)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN not provided Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18528940dupG
CLNSRC
CLNACC RCV000133382.1, RCV000193845.1,