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rs786204978

From SNPedia

Orientationplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs786204978(-;-)
Make rs786204978(-;AC)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18609523
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204978
ebirs786204978
HLIrs786204978
Exacrs786204978
Varsomers786204978
Maprs786204978
PheGenIrs786204978
hapmaprs786204978
1000 genomesrs786204978
hgdprs786204978
ensemblrs786204978
gopubmedrs786204978
geneviewrs786204978
scholarrs786204978
googlers786204978
pharmgkbrs786204978
gwascentralrs786204978
openSNPrs786204978
23andMers786204978
23andMe allrs786204978
SNP Nexus

SNPshotrs786204978
SNPdbers786204978
MSV3drs786204978
GWAS Ctlgrs786204978
Max Magnitude0
ClinVar
Risk rs786204978(;)
Alt rs786204978(;)
Reference rs786204978(AC;AC)
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.18627643_18627644delAC
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170018.1,