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rs267608553

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267608553(A;G)
Make rs267608553(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18603900
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608553
ebirs267608553
HLIrs267608553
Exacrs267608553
Varsomers267608553
Maprs267608553
PheGenIrs267608553
hapmaprs267608553
1000 genomesrs267608553
hgdprs267608553
ensemblrs267608553
gopubmedrs267608553
geneviewrs267608553
scholarrs267608553
googlers267608553
pharmgkbrs267608553
gwascentralrs267608553
openSNPrs267608553
23andMers267608553
23andMe allrs267608553
SNP Nexus

SNPshotrs267608553
SNPdbers267608553
MSV3drs267608553
GWAS Ctlgrs267608553
Max Magnitude0
ClinVar
Risk rs267608553(G;G)
Alt rs267608553(G;G)
Reference rs267608553(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.18622020A>G
CLNSRC RettBASE (CDKL5)
CLNACC RCV000144143.1, RCV000170057.1,