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rs267608477

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267608477(A;A)
Make rs267608477(A;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18581912
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608477
ebirs267608477
HLIrs267608477
Exacrs267608477
Varsomers267608477
Maprs267608477
PheGenIrs267608477
hapmaprs267608477
1000 genomesrs267608477
hgdprs267608477
ensemblrs267608477
gopubmedrs267608477
geneviewrs267608477
scholarrs267608477
googlers267608477
pharmgkbrs267608477
gwascentralrs267608477
openSNPrs267608477
23andMers267608477
23andMe allrs267608477
SNP Nexus

SNPshotrs267608477
SNPdbers267608477
MSV3drs267608477
GWAS Ctlgrs267608477
Max Magnitude0
ClinVar
Risk rs267608477(A;A)
Alt rs267608477(A;A)
Reference rs267608477(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.18600032T>A
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133369.2,