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rs267608419

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267608419(-;-)
Make rs267608419(-;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18507162
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608419
ebirs267608419
HLIrs267608419
Exacrs267608419
Varsomers267608419
Maprs267608419
PheGenIrs267608419
hapmaprs267608419
1000 genomesrs267608419
hgdprs267608419
ensemblrs267608419
gopubmedrs267608419
geneviewrs267608419
scholarrs267608419
googlers267608419
pharmgkbrs267608419
gwascentralrs267608419
openSNPrs267608419
23andMers267608419
23andMe allrs267608419
SNP Nexus

SNPshotrs267608419
SNPdbers267608419
MSV3drs267608419
GWAS Ctlgrs267608419
Max Magnitude0
ClinVar
Risk rs267608419(;)
Alt rs267608419(;)
Reference rs267608419(T;T)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN not provided Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18525282delT
CLNSRC RettBASE (CDKL5)
CLNACC RCV000144141.1, RCV000170051.1,