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rs587783124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783124(-;-)
Make rs587783124(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18625220
GeneCDKL5
is asnp
is mentioned by
dbSNPrs587783124
dbSNP (classic)rs587783124
ClinGenrs587783124
ebirs587783124
HLIrs587783124
Exacrs587783124
Gnomadrs587783124
Varsomers587783124
LitVarrs587783124
Maprs587783124
PheGenIrs587783124
Biobankrs587783124
1000 genomesrs587783124
hgdprs587783124
ensemblrs587783124
geneviewrs587783124
scholarrs587783124
googlers587783124
pharmgkbrs587783124
gwascentralrs587783124
openSNPrs587783124
23andMers587783124
SNPshotrs587783124
SNPdbers587783124
MSV3drs587783124
GWAS Ctlgrs587783124
Max Magnitude0
ClinVar
Risk rs587783124(-;-)
Alt rs587783124(-;-)
Reference Rs587783124(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene CDKL5
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.18643340delC
CLNSRC
CLNACC RCV000144795.1,