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rs267608395

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608395(C;T)
Make rs267608395(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18604599
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608395
ebirs267608395
HLIrs267608395
Exacrs267608395
Varsomers267608395
Maprs267608395
PheGenIrs267608395
hapmaprs267608395
1000 genomesrs267608395
hgdprs267608395
ensemblrs267608395
gopubmedrs267608395
geneviewrs267608395
scholarrs267608395
googlers267608395
pharmgkbrs267608395
gwascentralrs267608395
openSNPrs267608395
23andMers267608395
23andMe allrs267608395
SNP Nexus

SNPshotrs267608395
SNPdbers267608395
MSV3drs267608395
GWAS Ctlgrs267608395
Max Magnitude0
ClinVar
Risk rs267608395(T;T)
Alt rs267608395(T;T)
Reference rs267608395(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.18622719C>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133328.4, RCV000145521.2, RCV000169917.1,