rs267608441

Orientation

plus

Stabilized

plus

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

Make rs267608441(-;-)

Make rs267608441(-;GAAG)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18575437

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608441
dbSNP (classic)	rs267608441
ClinGen	rs267608441
ebi	rs267608441
HLI	rs267608441
Exac	rs267608441
Gnomad	rs267608441
Varsome	rs267608441
LitVar	rs267608441
Map	rs267608441
PheGenI	rs267608441
Biobank	rs267608441
1000 genomes	rs267608441
hgdp	rs267608441
ensembl	rs267608441
geneview	rs267608441
scholar	rs267608441
google	rs267608441
pharmgkb	rs267608441
gwascentral	rs267608441
openSNP	rs267608441
23andMe	rs267608441
SNPshot	rs267608441
SNPdbe	rs267608441
MSV3d	rs267608441
GWAS Ctlg	rs267608441

Max Magnitude

0

ClinVar
Risk	rs267608441(-;-)
Alt	rs267608441(-;-)
Reference	Rs267608441(GAAG;GAAG)
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.18593557_18593560delGAAG
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133346.2,