rs267608656

Orientation

plus

Stabilized

plus

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

Make rs267608656(C;C)

Make rs267608656(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18619967

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608656
dbSNP (classic)	rs267608656
ClinGen	rs267608656
ebi	rs267608656
HLI	rs267608656
Exac	rs267608656
Gnomad	rs267608656
Varsome	rs267608656
LitVar	rs267608656
Map	rs267608656
PheGenI	rs267608656
Biobank	rs267608656
1000 genomes	rs267608656
hgdp	rs267608656
ensembl	rs267608656
geneview	rs267608656
scholar	rs267608656
google	rs267608656
pharmgkb	rs267608656
gwascentral	rs267608656
openSNP	rs267608656
23andMe	rs267608656
SNPshot	rs267608656
SNPdbe	rs267608656
MSV3d	rs267608656
GWAS Ctlg	rs267608656

Max Magnitude

0

ClinVar
Risk	rs267608656(A;A) rs267608656(C;C)
Alt	rs267608656(A;A) rs267608656(C;C)
Reference	Rs267608656(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.18638087G>A; NC_000023.10:g.18638087G>C
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000144127.1, RCV000170020.1, RCV000144128.1, RCV000170021.1,