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rs1060501860

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501860(-;-)
Make rs1060501860(-;C)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position18608888
GeneCDKL5
is asnp
is mentioned by
dbSNPrs1060501860
dbSNP (classic)rs1060501860
ClinGenrs1060501860
ebirs1060501860
HLIrs1060501860
Exacrs1060501860
Gnomadrs1060501860
Varsomers1060501860
LitVarrs1060501860
Maprs1060501860
PheGenIrs1060501860
Biobankrs1060501860
1000 genomesrs1060501860
hgdprs1060501860
ensemblrs1060501860
geneviewrs1060501860
scholarrs1060501860
googlers1060501860
pharmgkbrs1060501860
gwascentralrs1060501860
openSNPrs1060501860
23andMers1060501860
23andMe allrs1060501860
SNPshotrs1060501860
SNPdbers1060501860
MSV3drs1060501860
GWAS Ctlgrs1060501860
Max Magnitude0
ClinVar
Risk rs1060501860(-;-)
Alt rs1060501860(-;-)
Reference Rs1060501860(C;C)
Significance Pathogenic
Disease Angelman syndrome-like Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN Angelman syndrome-like Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18627008delC
CLNSRC
CLNACC RCV000464248.1,