rs267608648

Orientation

plus

Stabilized

plus

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

Make rs267608648(-;-)

Make rs267608648(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18608882

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608648
dbSNP (classic)	rs267608648
ClinGen	rs267608648
ebi	rs267608648
HLI	rs267608648
Exac	rs267608648
Gnomad	rs267608648
Varsome	rs267608648
LitVar	rs267608648
Map	rs267608648
PheGenI	rs267608648
Biobank	rs267608648
1000 genomes	rs267608648
hgdp	rs267608648
ensembl	rs267608648
geneview	rs267608648
scholar	rs267608648
google	rs267608648
pharmgkb	rs267608648
gwascentral	rs267608648
openSNP	rs267608648
23andMe	rs267608648
SNPshot	rs267608648
SNPdbe	rs267608648
MSV3d	rs267608648
GWAS Ctlg	rs267608648

Max Magnitude

0

ClinVar
Risk	rs267608648(-;-)
Alt	rs267608648(-;-)
Reference	Rs267608648(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.18627002delC
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133339.2,