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rs786204974

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786204974(-;-)
Make rs786204974(-;G)
Make rs786204974(G;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18604708
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204974
ebirs786204974
HLIrs786204974
Exacrs786204974
Varsomers786204974
Maprs786204974
PheGenIrs786204974
hapmaprs786204974
1000 genomesrs786204974
hgdprs786204974
ensemblrs786204974
gopubmedrs786204974
geneviewrs786204974
scholarrs786204974
googlers786204974
pharmgkbrs786204974
gwascentralrs786204974
openSNPrs786204974
23andMers786204974
23andMe allrs786204974
SNP Nexus

SNPshotrs786204974
SNPdbers786204974
MSV3drs786204974
GWAS Ctlgrs786204974
Max Magnitude0
ClinVar
Risk rs786204974(G;G)
Alt rs786204974(G;G)
Reference rs786204974(;)
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.18622828dupG
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170011.1,