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rs267608415

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267608415(-;-)
Make rs267608415(-;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18507135
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608415
ebirs267608415
HLIrs267608415
Exacrs267608415
Varsomers267608415
Maprs267608415
PheGenIrs267608415
hapmaprs267608415
1000 genomesrs267608415
hgdprs267608415
ensemblrs267608415
gopubmedrs267608415
geneviewrs267608415
scholarrs267608415
googlers267608415
pharmgkbrs267608415
gwascentralrs267608415
openSNPrs267608415
23andMers267608415
23andMe allrs267608415
SNP Nexus

SNPshotrs267608415
SNPdbers267608415
MSV3drs267608415
GWAS Ctlgrs267608415
Max Magnitude0
ClinVar
Risk rs267608415(;)
Alt rs267608415(;)
Reference rs267608415(T;T)
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.18525255delT
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133367.2,