rs267608553

Orientation

plus

Stabilized

plus

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

Make rs267608553(A;G)

Make rs267608553(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18603900

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608553
dbSNP (classic)	rs267608553
ClinGen	rs267608553
ebi	rs267608553
HLI	rs267608553
Exac	rs267608553
Gnomad	rs267608553
Varsome	rs267608553
LitVar	rs267608553
Map	rs267608553
PheGenI	rs267608553
Biobank	rs267608553
1000 genomes	rs267608553
hgdp	rs267608553
ensembl	rs267608553
geneview	rs267608553
scholar	rs267608553
google	rs267608553
pharmgkb	rs267608553
gwascentral	rs267608553
openSNP	rs267608553
23andMe	rs267608553
SNPshot	rs267608553
SNPdbe	rs267608553
MSV3d	rs267608553
GWAS Ctlg	rs267608553

Max Magnitude

0

ClinVar
Risk	rs267608553(G;G)
Alt	rs267608553(G;G)
Reference	Rs267608553(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.18622020A>G
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000144143.1, RCV000170057.1,