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rs786204987

From SNPedia

Orientationplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs786204987(-;-)
Make rs786204987(-;CA)
Make rs786204987(CA;CA)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18584305
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204987
ebirs786204987
HLIrs786204987
Exacrs786204987
Varsomers786204987
Maprs786204987
PheGenIrs786204987
hapmaprs786204987
1000 genomesrs786204987
hgdprs786204987
ensemblrs786204987
gopubmedrs786204987
geneviewrs786204987
scholarrs786204987
googlers786204987
pharmgkbrs786204987
gwascentralrs786204987
openSNPrs786204987
23andMers786204987
23andMe allrs786204987
SNP Nexus

SNPshotrs786204987
SNPdbers786204987
MSV3drs786204987
GWAS Ctlgrs786204987
Max Magnitude0
ClinVar
Risk rs786204987(;)
Alt rs786204987(;)
Reference rs786204987(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.18602425_18602426delCA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170047.1,