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rs267608511

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267608511(C;C)
Make rs267608511(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18588058
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608511
ebirs267608511
HLIrs267608511
Exacrs267608511
Varsomers267608511
Maprs267608511
PheGenIrs267608511
hapmaprs267608511
1000 genomesrs267608511
hgdprs267608511
ensemblrs267608511
gopubmedrs267608511
geneviewrs267608511
scholarrs267608511
googlers267608511
pharmgkbrs267608511
gwascentralrs267608511
openSNPrs267608511
23andMers267608511
23andMe allrs267608511
SNP Nexus

SNPshotrs267608511
SNPdbers267608511
MSV3drs267608511
GWAS Ctlgrs267608511
Max Magnitude0
ClinVar
Risk rs267608511(C;C)
Alt rs267608511(C;C)
Reference rs267608511(T;T)
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.18606178T>C
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133381.2,