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rs267608655

From SNPedia

Orientationplus
Geno Mag Summary
(AAGAA;AAGAA) 0 common in clinvar
Make rs267608655(-;-)
Make rs267608655(-;AGAAA)
Make rs267608655(AGAAA;AGAAA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18619953
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608655
ebirs267608655
HLIrs267608655
Exacrs267608655
Varsomers267608655
Maprs267608655
PheGenIrs267608655
hapmaprs267608655
1000 genomesrs267608655
hgdprs267608655
ensemblrs267608655
gopubmedrs267608655
geneviewrs267608655
scholarrs267608655
googlers267608655
pharmgkbrs267608655
gwascentralrs267608655
openSNPrs267608655
23andMers267608655
23andMe allrs267608655
SNP Nexus

SNPshotrs267608655
SNPdbers267608655
MSV3drs267608655
GWAS Ctlgrs267608655
Max Magnitude0
ClinVar
Risk rs267608655(;)
Alt rs267608655(;)
Reference rs267608655(AAGAA;AAGAA)
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.18638073_18638077delAGAAA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133349.2,