rs267608429

Orientation

plus

Stabilized

plus

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

Make rs267608429(A;G)

Make rs267608429(G;G)

Reference

GRCh38 38.1/142

Chromosome

X

Position

18564502

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608429
dbSNP (classic)	rs267608429
ClinGen	rs267608429
ebi	rs267608429
HLI	rs267608429
Exac	rs267608429
Gnomad	rs267608429
Varsome	rs267608429
LitVar	rs267608429
Map	rs267608429
PheGenI	rs267608429
Biobank	rs267608429
1000 genomes	rs267608429
hgdp	rs267608429
ensembl	rs267608429
geneview	rs267608429
scholar	rs267608429
google	rs267608429
pharmgkb	rs267608429
gwascentral	rs267608429
openSNP	rs267608429
23andMe	rs267608429
SNPshot	rs267608429
SNPdbe	rs267608429
MSV3d	rs267608429
GWAS Ctlg	rs267608429

Max Magnitude

0

ClinVar
Risk	rs267608429(G;G)
Alt	rs267608429(G;G)
Reference	Rs267608429(A;A)
Significance	Pathogenic
Disease	not provided Early infantile epileptic encephalopathy 2
Variation	info
Gene	CDKL5
CLNDBN	not provided Early infantile epileptic encephalopathy 2
Reversed	0
HGVS	NC_000023.10:g.18582622A>G
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000133319.2, RCV000145514.1,