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rs267608643

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608643(C;T)
Make rs267608643(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18604572
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608643
ebirs267608643
HLIrs267608643
Exacrs267608643
Varsomers267608643
Maprs267608643
PheGenIrs267608643
hapmaprs267608643
1000 genomesrs267608643
hgdprs267608643
ensemblrs267608643
gopubmedrs267608643
geneviewrs267608643
scholarrs267608643
googlers267608643
pharmgkbrs267608643
gwascentralrs267608643
openSNPrs267608643
23andMers267608643
23andMe allrs267608643
SNP Nexus

SNPshotrs267608643
SNPdbers267608643
MSV3drs267608643
GWAS Ctlgrs267608643
Max Magnitude0
ClinVar
Risk rs267608643(T;T)
Alt rs267608643(T;T)
Reference rs267608643(C;C)
Significance Pathogenic
Disease not provided Atypical Rett syndrome Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN not provided Atypical Rett syndrome Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18622692C>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133327.3, RCV000169916.1, RCV000170009.1,