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rs1057518759

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518759(-;GC)
Make rs1057518759(GC;GC)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position18604396
GeneCDKL5
is asnp
is mentioned by
dbSNPrs1057518759
dbSNP (old)rs1057518759
ClinGenrs1057518759
ebirs1057518759
HLIrs1057518759
Exacrs1057518759
Gnomadrs1057518759
Varsomers1057518759
Maprs1057518759
PheGenIrs1057518759
Biobankrs1057518759
1000 genomesrs1057518759
hgdprs1057518759
ensemblrs1057518759
gopubmedrs1057518759
geneviewrs1057518759
scholarrs1057518759
googlers1057518759
pharmgkbrs1057518759
gwascentralrs1057518759
openSNPrs1057518759
23andMers1057518759
23andMe allrs1057518759
SNPshotrs1057518759
SNPdbers1057518759
MSV3drs1057518759
GWAS Ctlgrs1057518759
Max Magnitude0
ClinVar
Risk rs1057518759(GC;GC)
Alt rs1057518759(GC;GC)
Reference Rs1057518759(-;-)
Significance Probable-Pathogenic
Disease Developmental delay Epileptic encephalopathy
Variation info
Gene CDKL5
CLNDBN Developmental delay Epileptic encephalopathy
Reversed 0
HGVS NC_000023.10:g.18622515_18622516dupGC
CLNSRC
CLNACC RCV000415357.1,