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rs267608472

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608472(C;T)
Make rs267608472(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18579965
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608472
ebirs267608472
HLIrs267608472
Exacrs267608472
Varsomers267608472
Maprs267608472
PheGenIrs267608472
hapmaprs267608472
1000 genomesrs267608472
hgdprs267608472
ensemblrs267608472
gopubmedrs267608472
geneviewrs267608472
scholarrs267608472
googlers267608472
pharmgkbrs267608472
gwascentralrs267608472
openSNPrs267608472
23andMers267608472
23andMe allrs267608472
SNP Nexus

SNPshotrs267608472
SNPdbers267608472
MSV3drs267608472
GWAS Ctlgrs267608472
Max Magnitude0
ClinVar
Risk rs267608472(T;T)
Alt rs267608472(T;T)
Reference rs267608472(C;C)
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.18598085C>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133368.4, RCV000169919.1,