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rs267608656

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608656(C;C)
Make rs267608656(C;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18619967
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608656
ebirs267608656
HLIrs267608656
Exacrs267608656
Varsomers267608656
Maprs267608656
PheGenIrs267608656
hapmaprs267608656
1000 genomesrs267608656
hgdprs267608656
ensemblrs267608656
gopubmedrs267608656
geneviewrs267608656
scholarrs267608656
googlers267608656
pharmgkbrs267608656
gwascentralrs267608656
openSNPrs267608656
23andMers267608656
23andMe allrs267608656
SNP Nexus

SNPshotrs267608656
SNPdbers267608656
MSV3drs267608656
GWAS Ctlgrs267608656
Max Magnitude0
ClinVar
Risk rs267608656(A,C;A,C)
Alt rs267608656(A,C;A,C)
Reference rs267608656(G;G)
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.18638087G>A; NC_000023.10:g.18638087G>C
CLNSRC RettBASE (CDKL5)
CLNACC RCV000144127.1, RCV000170020.1, RCV000144128.1, RCV000170021.1,