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rs267608474

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608474(G;T)
Make rs267608474(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18581890
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608474
ebirs267608474
HLIrs267608474
Exacrs267608474
Varsomers267608474
Maprs267608474
PheGenIrs267608474
hapmaprs267608474
1000 genomesrs267608474
hgdprs267608474
ensemblrs267608474
gopubmedrs267608474
geneviewrs267608474
scholarrs267608474
googlers267608474
pharmgkbrs267608474
gwascentralrs267608474
openSNPrs267608474
23andMers267608474
23andMe allrs267608474
SNP Nexus

SNPshotrs267608474
SNPdbers267608474
MSV3drs267608474
GWAS Ctlgrs267608474
Max Magnitude0
ClinVar
Risk rs267608474(A,T;A,T)
Alt rs267608474(A,T;A,T)
Reference rs267608474(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 2 not provided
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2 not provided
Reversed 0
HGVS NC_000023.10:g.18600010G>A; NC_000023.10:g.18600010G>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170041.1, RCV000144134.1, RCV000170042.1,