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rs267608497

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs267608497(-;-)
Make rs267608497(-;A)
Make rs267608497(A;A)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18584348
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608497
ebirs267608497
HLIrs267608497
Exacrs267608497
Varsomers267608497
Maprs267608497
PheGenIrs267608497
hapmaprs267608497
1000 genomesrs267608497
hgdprs267608497
ensemblrs267608497
gopubmedrs267608497
geneviewrs267608497
scholarrs267608497
googlers267608497
pharmgkbrs267608497
gwascentralrs267608497
openSNPrs267608497
23andMers267608497
23andMe allrs267608497
SNP Nexus

SNPshotrs267608497
SNPdbers267608497
MSV3drs267608497
GWAS Ctlgrs267608497
Max Magnitude0
ClinVar
Risk rs267608497(A;A)
Alt rs267608497(A;A)
Reference rs267608497(;)
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.18602468dupA
CLNSRC
CLNACC RCV000133376.2, RCV000192825.1,