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rs786204965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204965(-;-)
Make rs786204965(-;C)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18603995
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204965
dbSNP (classic)rs786204965
ClinGenrs786204965
ebirs786204965
HLIrs786204965
Exacrs786204965
Gnomadrs786204965
Varsomers786204965
LitVarrs786204965
Maprs786204965
PheGenIrs786204965
Biobankrs786204965
1000 genomesrs786204965
hgdprs786204965
ensemblrs786204965
geneviewrs786204965
scholarrs786204965
googlers786204965
pharmgkbrs786204965
gwascentralrs786204965
openSNPrs786204965
23andMers786204965
SNPshotrs786204965
SNPdbers786204965
MSV3drs786204965
GWAS Ctlgrs786204965
Max Magnitude0
ClinVar
Risk rs786204965(-;-)
Alt rs786204965(-;-)
Reference Rs786204965(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene CDKL5
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.18622115delC
CLNSRC RettBASE (CDKL5)
CLNACC RCV000169992.1,