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rs1057519542

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519542(-;GACC)
Make rs1057519542(GACC;GACC)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position18604376
GeneCDKL5
is asnp
is mentioned by
dbSNPrs1057519542
dbSNP (old)rs1057519542
ClinGenrs1057519542
ebirs1057519542
HLIrs1057519542
Exacrs1057519542
Gnomadrs1057519542
Varsomers1057519542
LitVarrs1057519542
Maprs1057519542
PheGenIrs1057519542
Biobankrs1057519542
1000 genomesrs1057519542
hgdprs1057519542
ensemblrs1057519542
gopubmedrs1057519542
geneviewrs1057519542
scholarrs1057519542
googlers1057519542
pharmgkbrs1057519542
gwascentralrs1057519542
openSNPrs1057519542
23andMers1057519542
23andMe allrs1057519542
SNPshotrs1057519542
SNPdbers1057519542
MSV3drs1057519542
GWAS Ctlgrs1057519542
Max Magnitude0
ClinVar
Risk rs1057519542(GACC;GACC)
Alt rs1057519542(GACC;GACC)
Reference Rs1057519542(-;-)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CDKL5
CLNDBN Epileptic encephalopathy
Reversed 0
HGVS NC_000023.10:g.18622493_18622496dupGACC
CLNSRC
CLNACC RCV000417015.1,