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rs1060501859

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060501859(A;G)
Make rs1060501859(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position18598460
GeneCDKL5
is asnp
is mentioned by
dbSNPrs1060501859
dbSNP (old)rs1060501859
ClinGenrs1060501859
ebirs1060501859
HLIrs1060501859
Exacrs1060501859
Gnomadrs1060501859
Varsomers1060501859
Maprs1060501859
PheGenIrs1060501859
Biobankrs1060501859
1000 genomesrs1060501859
hgdprs1060501859
ensemblrs1060501859
gopubmedrs1060501859
geneviewrs1060501859
scholarrs1060501859
googlers1060501859
pharmgkbrs1060501859
gwascentralrs1060501859
openSNPrs1060501859
23andMers1060501859
23andMe allrs1060501859
SNPshotrs1060501859
SNPdbers1060501859
MSV3drs1060501859
GWAS Ctlgrs1060501859
Max Magnitude0
ClinVar
Risk rs1060501859(G;G)
Alt rs1060501859(G;G)
Reference Rs1060501859(A;A)
Significance Probable-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.18616580A>G
CLNSRC
CLNACC RCV000474894.1,