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rs267608647

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608647(C;T)
Make rs267608647(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18608820
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608647
ebirs267608647
HLIrs267608647
Exacrs267608647
Varsomers267608647
Maprs267608647
PheGenIrs267608647
hapmaprs267608647
1000 genomesrs267608647
hgdprs267608647
ensemblrs267608647
gopubmedrs267608647
geneviewrs267608647
scholarrs267608647
googlers267608647
pharmgkbrs267608647
gwascentralrs267608647
openSNPrs267608647
23andMers267608647
23andMe allrs267608647
SNP Nexus

SNPshotrs267608647
SNPdbers267608647
MSV3drs267608647
GWAS Ctlgrs267608647
Max Magnitude0
ClinVar
Risk rs267608647(T;T)
Alt rs267608647(T;T)
Reference rs267608647(C;C)
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.18626940C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000133337.2, RCV000145526.1,