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rs267608433

From SNPedia

Orientationplus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
Make rs267608433(-;-)
Make rs267608433(-;GAAA)
Make rs267608433(GAAA;GAAA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18575371
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608433
ebirs267608433
HLIrs267608433
Exacrs267608433
Varsomers267608433
Maprs267608433
PheGenIrs267608433
hapmaprs267608433
1000 genomesrs267608433
hgdprs267608433
ensemblrs267608433
gopubmedrs267608433
geneviewrs267608433
scholarrs267608433
googlers267608433
pharmgkbrs267608433
gwascentralrs267608433
openSNPrs267608433
23andMers267608433
23andMe allrs267608433
SNP Nexus

SNPshotrs267608433
SNPdbers267608433
MSV3drs267608433
GWAS Ctlgrs267608433
Max Magnitude0
ClinVar
Risk rs267608433(;)
Alt rs267608433(;)
Reference rs267608433(AAAG;AAAG)
Significance Pathogenic
Disease Atypical Rett syndrome Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18593491_18593494delGAAA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133326.2, RCV000170008.1,