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rs786204977

From SNPedia

Orientationplus
Geno Mag Summary
(GGAAAAC;GGAAAAC) 0 common in clinvar
Make rs786204977(-;-)
Make rs786204977(-;GGAAAAC)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18575415
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204977
ebirs786204977
HLIrs786204977
Exacrs786204977
Varsomers786204977
Maprs786204977
PheGenIrs786204977
hapmaprs786204977
1000 genomesrs786204977
hgdprs786204977
ensemblrs786204977
gopubmedrs786204977
geneviewrs786204977
scholarrs786204977
googlers786204977
pharmgkbrs786204977
gwascentralrs786204977
openSNPrs786204977
23andMers786204977
23andMe allrs786204977
SNP Nexus

SNPshotrs786204977
SNPdbers786204977
MSV3drs786204977
GWAS Ctlgrs786204977
Max Magnitude0
ClinVar
Risk rs786204977(;)
Alt rs786204977(;)
Reference rs786204977(GGAAAAC;GGAAAAC)
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.18593535_18593541delGGAAAAC
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170017.1,