rs267608515

Orientation

plus

Stabilized

plus

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

Make rs267608515(G;G)

Make rs267608515(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18588079

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608515
dbSNP (classic)	rs267608515
ClinGen	rs267608515
ebi	rs267608515
HLI	rs267608515
Exac	rs267608515
Gnomad	rs267608515
Varsome	rs267608515
LitVar	rs267608515
Map	rs267608515
PheGenI	rs267608515
Biobank	rs267608515
1000 genomes	rs267608515
hgdp	rs267608515
ensembl	rs267608515
geneview	rs267608515
scholar	rs267608515
google	rs267608515
pharmgkb	rs267608515
gwascentral	rs267608515
openSNP	rs267608515
23andMe	rs267608515
SNPshot	rs267608515
SNPdbe	rs267608515
MSV3d	rs267608515
GWAS Ctlg	rs267608515

Max Magnitude

0

ClinVar
Risk	rs267608515(G;G)
Alt	rs267608515(G;G)
Reference	Rs267608515(T;T)
Significance	Probable-Pathogenic
Disease	Early infantile epileptic encephalopathy 2
Variation	info
Gene	CDKL5
CLNDBN	Early infantile epileptic encephalopathy 2
Reversed	0
HGVS	NC_000023.10:g.18606199T>G
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133383.2,