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rs267608493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608493(A;A)
Make rs267608493(A;C)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18584331
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608493
ebirs267608493
HLIrs267608493
Exacrs267608493
Varsomers267608493
Maprs267608493
PheGenIrs267608493
hapmaprs267608493
1000 genomesrs267608493
hgdprs267608493
ensemblrs267608493
gopubmedrs267608493
geneviewrs267608493
scholarrs267608493
googlers267608493
pharmgkbrs267608493
gwascentralrs267608493
openSNPrs267608493
23andMers267608493
23andMe allrs267608493
SNP Nexus

SNPshotrs267608493
SNPdbers267608493
MSV3drs267608493
GWAS Ctlgrs267608493
Max Magnitude0
ClinVar
Risk rs267608493(A,T;A,T)
Alt rs267608493(A,T;A,T)
Reference rs267608493(C;C)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN not provided Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18602451C>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133373.5, RCV000169915.1, RCV000169986.1,