rs267608542

Orientation

plus

Stabilized

plus

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

Make rs267608542(-;-)

Make rs267608542(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18598520

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608542
dbSNP (classic)	rs267608542
ClinGen	rs267608542
ebi	rs267608542
HLI	rs267608542
Exac	rs267608542
Gnomad	rs267608542
Varsome	rs267608542
LitVar	rs267608542
Map	rs267608542
PheGenI	rs267608542
Biobank	rs267608542
1000 genomes	rs267608542
hgdp	rs267608542
ensembl	rs267608542
geneview	rs267608542
scholar	rs267608542
google	rs267608542
pharmgkb	rs267608542
gwascentral	rs267608542
openSNP	rs267608542
23andMe	rs267608542
SNPshot	rs267608542
SNPdbe	rs267608542
MSV3d	rs267608542
GWAS Ctlg	rs267608542

Max Magnitude

0

ClinVar
Risk	rs267608542(-;-)
Alt	rs267608542(-;-)
Reference	Rs267608542(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.18616640delC
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133390.2,