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rs587783116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587783116(-;A)
Make rs587783116(A;A)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18604719
GeneCDKL5
is asnp
is mentioned by
dbSNPrs587783116
dbSNP (classic)rs587783116
ClinGenrs587783116
ebirs587783116
HLIrs587783116
Exacrs587783116
Gnomadrs587783116
Varsomers587783116
LitVarrs587783116
Maprs587783116
PheGenIrs587783116
Biobankrs587783116
1000 genomesrs587783116
hgdprs587783116
ensemblrs587783116
geneviewrs587783116
scholarrs587783116
googlers587783116
pharmgkbrs587783116
gwascentralrs587783116
openSNPrs587783116
23andMers587783116
SNPshotrs587783116
SNPdbers587783116
MSV3drs587783116
GWAS Ctlgrs587783116
Max Magnitude0
ClinVar
Risk rs587783116(A;A)
Alt rs587783116(A;A)
Reference Rs587783116(-;-)
Significance Pathogenic
Disease not provided
Variation info
Gene CDKL5
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.18622839dupA
CLNSRC
CLNACC RCV000144787.1,