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rs267608423

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267608423(A;G)
Make rs267608423(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18564475
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608423
ebirs267608423
HLIrs267608423
Exacrs267608423
Varsomers267608423
Maprs267608423
PheGenIrs267608423
hapmaprs267608423
1000 genomesrs267608423
hgdprs267608423
ensemblrs267608423
gopubmedrs267608423
geneviewrs267608423
scholarrs267608423
googlers267608423
pharmgkbrs267608423
gwascentralrs267608423
openSNPrs267608423
23andMers267608423
23andMe allrs267608423
SNP Nexus

SNPshotrs267608423
SNPdbers267608423
MSV3drs267608423
GWAS Ctlgrs267608423
Max Magnitude0
ClinVar
Risk rs267608423(G;G)
Alt rs267608423(G;G)
Reference rs267608423(A;A)
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.18582595A>G
CLNSRC RettBASE (CDKL5)
CLNACC RCV000144120.1, RCV000169990.1,