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rs794727064

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727064(C;G)
Make rs794727064(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position18604076
GeneCDKL5
is asnp
is mentioned by
dbSNPrs794727064
ebirs794727064
HLIrs794727064
Exacrs794727064
Varsomers794727064
Maprs794727064
PheGenIrs794727064
hapmaprs794727064
1000 genomesrs794727064
hgdprs794727064
ensemblrs794727064
gopubmedrs794727064
geneviewrs794727064
scholarrs794727064
googlers794727064
pharmgkbrs794727064
gwascentralrs794727064
openSNPrs794727064
23andMers794727064
23andMe allrs794727064
SNP Nexus

SNPshotrs794727064
SNPdbers794727064
MSV3drs794727064
GWAS Ctlgrs794727064
Max Magnitude0
ClinVar
Risk rs794727064(G;G)
Alt rs794727064(G;G)
Reference rs794727064(C;C)
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.18622196C>G
CLNSRC
CLNACC RCV000174313.1,