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rs267608649

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs267608649(-;-)
Make rs267608649(-;C)
Make rs267608649(C;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18608882
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608649
ebirs267608649
HLIrs267608649
Exacrs267608649
Varsomers267608649
Maprs267608649
PheGenIrs267608649
hapmaprs267608649
1000 genomesrs267608649
hgdprs267608649
ensemblrs267608649
gopubmedrs267608649
geneviewrs267608649
scholarrs267608649
googlers267608649
pharmgkbrs267608649
gwascentralrs267608649
openSNPrs267608649
23andMers267608649
23andMe allrs267608649
SNP Nexus

SNPshotrs267608649
SNPdbers267608649
MSV3drs267608649
GWAS Ctlgrs267608649
Max Magnitude0
ClinVar
Risk rs267608649(C;C)
Alt rs267608649(C;C)
Reference rs267608649(;)
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.18627002dupC
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133340.2,