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rs863225289

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225289(C;T)
Make rs863225289(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position18628590
GeneCDKL5
is asnp
is mentioned by
dbSNPrs863225289
ebirs863225289
HLIrs863225289
Exacrs863225289
Varsomers863225289
Maprs863225289
PheGenIrs863225289
hapmaprs863225289
1000 genomesrs863225289
hgdprs863225289
ensemblrs863225289
gopubmedrs863225289
geneviewrs863225289
scholarrs863225289
googlers863225289
pharmgkbrs863225289
gwascentralrs863225289
openSNPrs863225289
23andMers863225289
23andMe allrs863225289
SNP Nexus

SNPshotrs863225289
SNPdbers863225289
MSV3drs863225289
GWAS Ctlgrs863225289
Max Magnitude0
ClinVar
Risk rs863225289(T;T)
Alt rs863225289(T;T)
Reference rs863225289(C;C)
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.18646710C>T
CLNSRC
CLNACC RCV000201936.1,