rs1060501860

Orientation

plus

Stabilized

plus

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

Make rs1060501860(-;-)

Make rs1060501860(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

18608888

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs1060501860
dbSNP (classic)	rs1060501860
ClinGen	rs1060501860
ebi	rs1060501860
HLI	rs1060501860
Exac	rs1060501860
Gnomad	rs1060501860
Varsome	rs1060501860
LitVar	rs1060501860
Map	rs1060501860
PheGenI	rs1060501860
Biobank	rs1060501860
1000 genomes	rs1060501860
hgdp	rs1060501860
ensembl	rs1060501860
geneview	rs1060501860
scholar	rs1060501860
google	rs1060501860
pharmgkb	rs1060501860
gwascentral	rs1060501860
openSNP	rs1060501860
23andMe	rs1060501860
SNPshot	rs1060501860
SNPdbe	rs1060501860
MSV3d	rs1060501860
GWAS Ctlg	rs1060501860

Max Magnitude

0

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,