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rs267608480

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267608480(A;G)
Make rs267608480(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18584261
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608480
ebirs267608480
HLIrs267608480
Exacrs267608480
Varsomers267608480
Maprs267608480
PheGenIrs267608480
hapmaprs267608480
1000 genomesrs267608480
hgdprs267608480
ensemblrs267608480
gopubmedrs267608480
geneviewrs267608480
scholarrs267608480
googlers267608480
pharmgkbrs267608480
gwascentralrs267608480
openSNPrs267608480
23andMers267608480
23andMe allrs267608480
SNP Nexus

SNPshotrs267608480
SNPdbers267608480
MSV3drs267608480
GWAS Ctlgrs267608480
Max Magnitude0
ClinVar
Risk rs267608480(G;G)
Alt rs267608480(G;G)
Reference rs267608480(A;A)
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.18602381A>G
CLNSRC RettBASE (CDKL5)
CLNACC RCV000144137.1, RCV000170046.1,