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rs267608552

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs267608552(-;-)
Make rs267608552(-;A)
Make rs267608552(A;A)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18598600
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608552
ebirs267608552
HLIrs267608552
Exacrs267608552
Varsomers267608552
Maprs267608552
PheGenIrs267608552
hapmaprs267608552
1000 genomesrs267608552
hgdprs267608552
ensemblrs267608552
gopubmedrs267608552
geneviewrs267608552
scholarrs267608552
googlers267608552
pharmgkbrs267608552
gwascentralrs267608552
openSNPrs267608552
23andMers267608552
23andMe allrs267608552
SNP Nexus

SNPshotrs267608552
SNPdbers267608552
MSV3drs267608552
GWAS Ctlgrs267608552
Max Magnitude0
ClinVar
Risk rs267608552(A;A)
Alt rs267608552(A;A)
Reference rs267608552(;)
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.18616720dupA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133393.2,