rs267608421

Orientation

plus

Stabilized

plus

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

Make rs267608421(G;T)

Make rs267608421(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18510855

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608421
dbSNP (classic)	rs267608421
ClinGen	rs267608421
ebi	rs267608421
HLI	rs267608421
Exac	rs267608421
Gnomad	rs267608421
Varsome	rs267608421
LitVar	rs267608421
Map	rs267608421
PheGenI	rs267608421
Biobank	rs267608421
1000 genomes	rs267608421
hgdp	rs267608421
ensembl	rs267608421
geneview	rs267608421
scholar	rs267608421
google	rs267608421
pharmgkb	rs267608421
gwascentral	rs267608421
openSNP	rs267608421
23andMe	rs267608421
SNPshot	rs267608421
SNPdbe	rs267608421
MSV3d	rs267608421
GWAS Ctlg	rs267608421

Max Magnitude

0

ClinVar
Risk	rs267608421(T;T)
Alt	rs267608421(T;T)
Reference	Rs267608421(G;G)
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.18528975G>T
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000144145.1, RCV000170058.1,