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rs786204980

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786204980(-;A)
Make rs786204980(A;A)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18628405
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204980
dbSNP (classic)rs786204980
ClinGenrs786204980
ebirs786204980
HLIrs786204980
Exacrs786204980
Gnomadrs786204980
Varsomers786204980
LitVarrs786204980
Maprs786204980
PheGenIrs786204980
Biobankrs786204980
1000 genomesrs786204980
hgdprs786204980
ensemblrs786204980
geneviewrs786204980
scholarrs786204980
googlers786204980
pharmgkbrs786204980
gwascentralrs786204980
openSNPrs786204980
23andMers786204980
SNPshotrs786204980
SNPdbers786204980
MSV3drs786204980
GWAS Ctlgrs786204980
Max Magnitude0
ClinVar
Risk rs786204980(A;A)
Alt rs786204980(A;A)
Reference Rs786204980(-;-)
Significance Pathogenic
Disease not provided
Variation info
Gene CDKL5
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.18646525dupA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170033.1,