rs1060501859

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs1060501859(A;G)

Make rs1060501859(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

18598460

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs1060501859
dbSNP (classic)	rs1060501859
ClinGen	rs1060501859
ebi	rs1060501859
HLI	rs1060501859
Exac	rs1060501859
Gnomad	rs1060501859
Varsome	rs1060501859
LitVar	rs1060501859
Map	rs1060501859
PheGenI	rs1060501859
Biobank	rs1060501859
1000 genomes	rs1060501859
hgdp	rs1060501859
ensembl	rs1060501859
geneview	rs1060501859
scholar	rs1060501859
google	rs1060501859
pharmgkb	rs1060501859
gwascentral	rs1060501859
openSNP	rs1060501859
23andMe	rs1060501859
SNPshot	rs1060501859
SNPdbe	rs1060501859
MSV3d	rs1060501859
GWAS Ctlg	rs1060501859

Max Magnitude

0

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,