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rs267608515

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267608515(G;G)
Make rs267608515(G;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18588079
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608515
ebirs267608515
HLIrs267608515
Exacrs267608515
Varsomers267608515
Maprs267608515
PheGenIrs267608515
hapmaprs267608515
1000 genomesrs267608515
hgdprs267608515
ensemblrs267608515
gopubmedrs267608515
geneviewrs267608515
scholarrs267608515
googlers267608515
pharmgkbrs267608515
gwascentralrs267608515
openSNPrs267608515
23andMers267608515
23andMe allrs267608515
SNP Nexus

SNPshotrs267608515
SNPdbers267608515
MSV3drs267608515
GWAS Ctlgrs267608515
Max Magnitude0
ClinVar
Risk rs267608515(G;G)
Alt rs267608515(G;G)
Reference rs267608515(T;T)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18606199T>G
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133383.2,