rs267608659

Orientation

plus

Stabilized

plus

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

Make rs267608659(C;T)

Make rs267608659(T;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

18625164

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608659
dbSNP (classic)	rs267608659
ClinGen	rs267608659
ebi	rs267608659
HLI	rs267608659
Exac	rs267608659
Gnomad	rs267608659
Varsome	rs267608659
LitVar	rs267608659
Map	rs267608659
PheGenI	rs267608659
Biobank	rs267608659
1000 genomes	rs267608659
hgdp	rs267608659
ensembl	rs267608659
geneview	rs267608659
scholar	rs267608659
google	rs267608659
pharmgkb	rs267608659
gwascentral	rs267608659
openSNP	rs267608659
23andMe	rs267608659
SNPshot	rs267608659
SNPdbe	rs267608659
MSV3d	rs267608659
GWAS Ctlg	rs267608659

Max Magnitude

0

ClinVar
Risk	rs267608659(T;T)
Alt	rs267608659(T;T)
Reference	Rs267608659(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 2
Variation	info
Gene	CDKL5
CLNDBN	Early infantile epileptic encephalopathy 2
Reversed	0
HGVS	NC_000023.10:g.18643284C>T
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000145530.2,